Behcet's Disease

Behcet’s disease is a type of vasculitis characterized by mouth sores, genital sores, inflammation inside of the eye, skin problems, and arthritis (swelling of the joints).The disease usually affects more men than women. The disease appears to be more severe in young, male, and Middle Eastern or Far Eastern patients.

The most striking feature is the presence of painful ulcers (sores). Oral (mouth) ulceration that happens more than three times in one year is considered to be diagnostic for Behçet's disease. Genital ulceration and skin lesions occur in 75% or more of patients. Brain (neurologic) disease occurs in less than one-fifth of patients. Inflammation inside the eye occurs in 25-75 % of patients. Both the small and large blood vessels (the vascular system) can be affected. People who have vascular involvement are at an increased risk of venous thrombosis (a blood clot in a vein). The vessels of the central nervous system (brain and spinal cord) or the heart may also be affected by Behcet’s disease.

The underlying cause of Behçet's disease is unknown. There may be environmental or viral factors that make a person’s immune system act differently, due to a genetic predisposition. Investigators are researching these and other possible causes.

There are no specific laboratory tests in Behçet's disease and therefore the diagnosis is made on the basis of the clinical findings.

The available data on treatment of Behçet's disease were systematically reviewed and published in 2000. Ten trials involving 679 patients were included. Some of the classic treatments for Behçet's syndrome appeared to be less effective than previously thought. These included colchicine, cyclophosphamide, and glucocorticoids for eye involvement, azapropazone and colchicine for arthritis, and acyclovir, colchicine, and topical interferon for mouth ulcers. Protective effects were noted with cyclosporine and azathioprine for eye disease and Benzathine penicillin for arthritis.

Several other agents such as Interferon alfa, thalidomide, methotrexate, mycophenolate mofetil, anti-tumor necrosis factor-alpha (TNF) therapy , and infliximab have been used in small studies.

Side effects of treatments for Behçet's disease include suppression of the bone marrow and the immune system leading to a greater chance of getting infections.

Corticosteroids are associated with increased risk of diabetes and bone mineral loss depending on the total period of treatment as well as the specific characteristics of the patient (gender, age). The use of Cyclosporine may cause hypertension (high blood pressure) and glucose intolerance. Cyclosporine is also considered to be damaging to the kidney, so close monitoring of the kidneys is needed.

Prognosis: Most people with Behçet's disease can lead productive lives and control symptoms with proper medication, rest, and exercise. When treatment is effective, flares usually become less frequent. Many patients eventually enter a period of remission (a disappearance of symptoms). Sometimes, treatment does not relieve symptoms, and gradually more serious symptoms such as eye disease may occur. Serious symptoms may appear months or years after the first signs of Behcet's disease occur.

Buerger's Disease

Buerger's Disease is vasculitis causing insufficient blood flow to the hands and feet, producing numbness, tingling and ultimately skin and gangrene. The classic Buerger's patient is a male, between the ages of 20 and 40, although there is a higher percentage of women and people over the age of 50 being diagnosed. Buerger's disease is most common in the Orient, Southeast Asia, India and the Middle East, but appears to be rare among African-Americans.

Diagnosis: Angiograms of the extremities is helpful in making the diagnosis. Skin biopsies are not recommended due to the concern that the biopsy site will not heal.

Treatment: Buerger's disease is associated with smoking and tobacco produces. Patients must stop smoking immediately. Abstinence from these products is the only way to treat this disease. Although anti-inflammatory agents (steroids) have proven beneficial in other vasculitides, they are not beneficial in treating Buerger's.

Central Nervous System (CNS)

Isolated central nervous system vasculitis also known as primary angiitis of the central nervous system (CNS), is a condition where the body's immune system attacks arteries of the brain, causing inflammation (swelling).

The cause of CNS is unknown. Researchers believe that some sort of event, like an infection, may trigger an inappropriate immune response directed mistakenly to the small and medium sized arteries of the brain.

Among the reported cases of CNS, there are more males who are diagnosed with the disease, and although most get the disease in their 40s or 50s, children as young as 3 and adults as old as 78 have been diagnosed with CNS.

The most common symptoms of CNS are: confusion, headache, personality changes, and muscle weakness/paralysis similar to what happens when someone suffers a stroke. Other symptoms include seizures, bleeding in the head, coma, and vision loss. Symptoms usually occur over the course of several months, but can also occur very quickly.

Nonspecific laboratory abnormalities have been noted among patients with CNS. The diagnosis of CNS can be done in different ways. The principal form of diagnosis remains angiography (x-rays of arteries), but magnetic resonance imaging (MRI) and CT scanning have also been utilized. None of these alone can be diagnostic of CNS. A common concern is that angiography in a patient with possible cerebral vessel inflammation is unsafe, and may result in complications. However a study of 125 cerebral angiograms, found no greater risk of complications in patients with proven CNS vasculitis than in those with normal angiograms. A lumbar puncture may also be performed to look for abnormalities in the cerebrospinal fluid.

The symptoms, signs, or findings among patients with CNS may "mimic" a number of disorders including other primary CNS vasculitides, systemic vasculitis, CNS infections or drug-induced disorders by methamphetamine, cocaine, "crack", and ephedrine abuse.

Early reports of patients with cerebral vasculitis suggested a less optimistic prognosis but more recent experience with immunosuppressive therapy has resulted in encouraging outcomes.

If the diagnosis of CNS is confirmed by biopsy, treatment with high doses of glucocorticoids (steroids) is warranted. Cytotoxic agents such as cyclophosphamide (Cytoxan) can be added depending on the clinical severity of the vasculitis.

Side-effects of high-dose glucocorticoids should be anticipated such as glucose intolerance or frank diabetes mellitus (condition of abnormal glucose levels in blood). Use of calcium supplements, vitamin D, hormone replacement therapy, and bisphosphonates can be taken to help protect the body from bone mineral loss. Antibiotics can also be taken to help prevent infection due to the use of immunosuppressants.

Churg Strauss Syndrome (CSS)

Churg-Strauss syndrome (CSS), also called allergic granulomatosis and angiitis, is a disorder characterized by allergic rhinitis (inflammation of the nose), asthma, and an alteration in blood counts called eosinophilia. The organs involved are usually the lung and the skin although any organ system can be affected including the cardiovascular (heart), gastrointestinal (stomach), kidneys and the central nervous system.

Both men and women are equally diagnosed with CSS. The mean age at diagnosis is 50 years, but the systemic vasculitic phase is frequently apparent in patients who are in their late 30s. It is uncommon in people older than 65 years.

The disease is most likely due to an autoimmune process, which is a disorder of the immune system.

The clinical manifestations of CSS usually has three stages.

The first phase is called the "allergic" phase and is characterized by characterized by allergic inflammation of the nose, the skin and the lungs. People are often diagnosed with late onset asthma during this phase.

The second phase is called the "hypereosinophilic" phase, which means that there are too many eosiniphils (a type of white blood cell) in the body. This phase is characterized by inflammation of the esophagus, stomach or intestines.

The third phase is the "systemic vasculitis" phase. During this phase there is inflammation and damage of blood vessels. Blood vessels can be damaged in different parts of the body. During this phase people may suffer from fever, weight loss, and lack of energy.

Asthma is the main feature of CSS (occurring in more than 95 % of patients) and usually precedes the vasculitic phase by approximately 8 to 10 years. It is frequently chronic and of sufficient severity to require long-term corticosteroid therapy.

Allergic rhinitis and skin involvement are also common. Manifestations of cardiac involvement in CSS include pericarditis, a condition characterized by inflammation of the external part of the heart, heart failure and myocardial infarction (heart attack). Dysfunction of the peripheral nerves, usually called mononeuritis multiplex, is seen in up to 75 %of patients with CSS.

Kidney involvement may be more common than is generally reported. A gastroenteritis (inflammation of the gastrointestinal duct) characterized by abdominal pain, diarrhea, bleeding, may precede or coincide with the vasculitic phase of CSS.

There are no specific laboratory tests for CSS. Eosinophilia, the increased percent of eosinophils, a type of white blood cells, above the normal range in blood counts is the most characteristic finding.

Antineutrophil cytoplasmic antibodies (ANCA) are found in several systemic vasculitides including CSS, and 38 to 59 % of CSS patients are ANCA positive.

The diagnosis of CSS is suggested by the clinical findings and then confirmed by lung biopsy or biopsy of affected tissues.

Treatment: Most patients with CSS respond favorably to corticosteroid therapy. Late relapses after a successful response to treatment are uncommon so treatment can be discontinued in most patients. Additional treatment options include inhaled steroids, cyclophosphamide (Cytoxan), azathioprine (Imuran) , and high-dose intravenous immune globulin (IVIG) have been used in patients with severe disease or disease that is unresponsive to corticosteroids. Such patients have been improved with a regimen of corticosteroids and interferon-alpha. Plasma exchange occasionally has been used in conjunction with other therapies.

All the immunosuppressive drugs include the possibility of development of infections since the immune system is weakened. In addition adverse effects of corticosteroids may include glucose intolerance or frank diabetes mellitus (condition of abnormal glucose levels in blood). Patients should be aware and watchful in order to report symptoms suggestive of diabetes or infection. Use of glucocorticoids may also predispose to, or worsen preexisting, osteoporosis, a disorder of the bone density. This is a particular concern especially for postmenopausal women and older men. Use of calcium supplements, vitamin D, hormone replacement therapy and/or bisphosphonates can help protect against bone mineral loss.

Autoimmunity is an unpredictable disorder developing under unspecified yet conditions. Psychological, environmental, genetic factors interfere and in combination with the treatment option selected lead to an individualized course and prognosis for each patient.

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Cryoglobulinemia

Cryoglobulinemia is the presence of abnormal proteins that are occasionally found in the blood of people with some forms of autoimmune diseases, multiple myeloma, leukemia, and certain forms of pneumonia. The proteins cause the blood to gel at low temperatures causing tissue necrosis.

Causes: Type 1 cryoglobulinemia is often associated with lymphoma. Type 2 cryoglobulinemia is often associated with hepatitis C infection. Drug usage is a prime risk factor for patients with cryoglobulinemia. Hepatitis C is acquired by injection drug use (needle-sharing), tainted blood products, and (probably rarely), sexual transmission.

Symptoms may include a rash on the lower limbs, arthritis, nerve damage and tissue necrosis of affected areas.

Treatment depends on the type of cryoglobulin, underlying disease, and severity of symptoms. Cryoglobulinemia with severe hyperviscosity syndrome requires plasmapheresis and chemotherapy of the underlying malignancy. Some patients with cryoglobulinemia suffer from mild, recurrent crops of lower extremity purpura that require no specific therapy. The most effective treatment for cryoglobulinemia associated with hepatitis C has not yet been determined. Treating the hepatitis may be an effective therapy for this type of vasculitis. Brief use of prednisone followed by 6 months of interferon alfa has produced clinical and liver function test improvement, but relapse of liver disease and vasculitis often occurs when interferon alfa is stopped.

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Giant Cell Arteritis (GCA)

Giant cell (temporal) arteritis (GCA) is a vasculitis of large and medium size vessels. It may be generalized but vessel inflammation most frequently involves vessels in the scalp and head, especially the arteries over the temples. The disease is called temporal arteritis because the temporal arteries, which course along the sides of the head just in front of the ears (to the temples) often become inflamed. Women, Caucasians, and individuals over 50 years of age are most commonly affected by GCA.

The onset of the symptoms in GCA tends to be gradual and includes low grade fever, fatigue, weakness and weight loss. A new headache, mild or severe, occurs in at least two-thirds of patients with the pain tending to be located over the sides of the head in front of the ears but may be frontal or other located. Nearly one-half of patients suffer from pain in the jaw after chewing (called jaw claudication). Impaired vision is often an early manifestation of the disease. Permanent partial or complete loss of vision in one or both eyes has been observed in 15-20 % of patients. It is rare for patients to become completely blind in both eyes.

Polymyalgia rheumatica (PMR), which is characterized by pain in the shoulders and hips, is closely linked to GCA, occurring in about 40-50 % of patients.

A laboratory abnormality seen in most patients with GCA is a very high erythrocyte sedimentation rate (ESR). The ESR measures how fast a patient's red blood cells settle when placed in a small tube. Anemia or low red blood cell count and microscopic hematuria (blood in the urine) may be found but renal (kidney) impairment is unlikely to be due to GCA. Other tests are occasionally abnormal with non specific meaning.

Temporal artery biopsy is suggested in all cases of suspected GCA. Even though the diagnosis may appear "classic" a temporal artery biopsy is still recommended. The biopsy is of low risk, causes very little pain, and often leaves little or no scar. After the use of a topical numbing medication (the same one used by a dentist), the doctor can remove a small part of the temporal artery from under the scalp in order to examine it under the microscope.

Other ways to diagnose GCA include: ultrasonography, angiographic examination, computerized topographic scanning and magnetic resonance angiography, high resolution magnetic resonance imaging and position emission tomography (PET).

Glucocorticoid treatment should be instituted once the diagnosis of GCA is established.

Glucocorticoids have inhibitory effects on a broad range of specific immune responses. Their effectiveness in GCA is well established by years of use. Daily dosing is more effective than alternate day dosing. This response usually occurs within two to four weeks after the institution of therapy. The diagnosis should be reevaluated in patients who are resistant to adequate steroid therapy. Steroid withdrawal can begin once clinical remission has been induced. Relapses are seen more frequently in the first year or two of the disease.

Adverse effects of corticosteroids are glucose intolerance or frank diabetes mellitus (condition of abnormal glucose levels in blood) and infections. Patients should be aware and watchful so as to report symptoms suggestive of diabetes or infection. Use of glucocorticoids may also predispose to, or worsen preexisting, osteoporosis (abnormal bone density condition) especially in postmenopausal women and older men. Use of calcium supplements, vitamin D, hormone replacement therapy and/or bisphosphonates are can be helpful in preventing bone mineral loss.

Relapses often necessitate increased dosage or prolonged steroid treatment. Some researchers have suggested that the addition of methotrexate may be steroid-sparing while others have not demonstrated any benefit. However the routine addition of methotrexate to glucocorticoid therapy for GCA is not recommended. The efficacy of other cytotoxic drugs, dapsone, antimalarials, etanercept, and penicillamine has not been studied adequately although they have been reported to be helpful in some case reports.

The finding of an increased risk of visual loss in patients with GCA and thrombocytosis (increase of the number of platelets in the blood), has led some to suggest the addition of drugs like aspirin for patients with high platelet counts, but there is not a lot of data to prove that this may reduce brain/skull problems.

Henoch-Schonlein Purpura (HSP)

Henoch-Schönlein purpura (HSP) is a systemic vasculitis that causes the blood vessels in the skin to become inflamed, causing red spots. When the blood vessels in the skin get inflamed, they can bleed, causing a rash that is called purpura. This rash is typically seen on the lower legs or arms. The specific skin lesion is characterized by the tissue deposition of an immune system product, called IgA immunoglobulin, which is also found in kidneys of patients with a renal disease, called IgA nephropathy.

HSP occurs more often in children than in adults, and many cases follow an upper respiratory tract infection (infection in your sinuses and /or lungs). Half of affected children are under age five, although kidney involvement is more likely to be severe in older children. Compared to children, adults had more severe and frequent kidney involvement.

Symptoms occur over a period of days to several weeks: skin rash, joint aches and pains, usually in knees and ankles, occasional swelling, abdominal pain and renal disease manifesting mostly as hematuria (blood in your urine), proteinuria (abnormal excretion of proteins in urine), edema (selling) or alteration in the volume of urine. The hematuria may be noticed as red or tea-colored or cola-colored urine or the amount may be so small that it can only be seen under a microscope. The brain or the lung may also be involved in HSP.

Gastrointestinal symptoms are present in the majority of patients including abdominal pain that is frequently associated with vomiting. The pain typically develops within eight days of the appearance of the rash. Bleeding of the gastrointestinal duct presenting with black or bright red color in stools is seen in these patients. Although rare, more serious complications may develop like intussusception, a situation in which one portion of the bowel slides into the next creating an obstruction in the bowel, leading to swelling, inflammation, and decreased blood flow to the intestines involved or inflammation of other organs leading to pancreatitis, cholecystitis, and entero nephrotic pathy.

Renal (kidney) involvement is common, occurring in 30-70 % of patients. Kidney disease is usually noted after the onset of systemic symptoms. More marked findings may also occur including nephrotic syndrome, a situation characterized by abnormal excretion of proteins and lipids in urine, swelling (edema), low level of albumin in blood and hyperlipidemia. High blood pressure (hypertension) and acute kidney failure may also be seen. Worsening of the kidney symptoms and biopsy-confirmed worsening of the kidney lesions may be observed in patients with repeated attacks of rash or hematuria (blood in the urine).

Even though the symptoms of HSP make it easier to diagnose in children, confirmation of the diagnosis of HSP requires evidence of tissue deposition in the skin or kidney of IgA immunoglobulin. Renal biopsy is another method to establish the diagnosis, but is reserved for patients in whom the diagnosis is uncertain or in whom there is evidence of more severe renal involvement.

The overall outcome is good in most patients. All of the manifestations of active HSP usually resolve spontaneously, although recurrent episodes of skin rash and hematuria may be seen. Among those with

kidney involvement, only a minority have persistent disease. The kidney prognosis is excellent in most patients. However some patients will have persistent protein in their urine, high blood pressure, and renal insufficiency. It is estimated that HSP accounts for approximately 3% of cases of end-stage kidney disease in children. Poor renal prognosis is more common among those with the nephrotic syndrome, renal insufficiency, and more advanced findings on biopsy.

Recurrences are common, occurring in approximately one-third of patients. Since complete recovery occurs in 94% of children and 89 % of adults, respectively, most patients receive no specific therapy. There is suggestive evidence that corticosteroids enhance the rate of resolution of the arthritis and abdominal pain, although they do not appear to prevent recurrent disease.

However, specific treatment is recommended in patients with marked proteinuria (protein in the urine) and/or impaired kidney function during the acute episode. A kidney biopsy can be performed to reveal the severity of the lesions which appears to be the best indicator of prognosis. Advanced disease, usually defined as crescentic nephritis, is treated with a regimen consisting of pulse intravenous methylprednisolone followed by oral prednisone.

Other regimens that have been evaluated in children with kidney disease include corticosteroids and azathioprine and multidrug regimens such as corticosteroids, cyclophosphamide, and dipyridamole, or corticosteroids, cyclophosphamide, heparin/warfarin, and dipyridamole. However, since spontaneous recovery is often observed in these patients, it remains unknown whether these regimens are superior to no or less aggressive therapy.

Plasmapheresis has also been used in a number of patients with severe disease although its efficacy is uncertain. Intravenous immune globulin has been tried in a small number of patients with heavy proteinuria and a progressive decline in kidney function.

Kidney transplantation can be performed in those patients who progress to end-stage kidney disease, although recurrent disease can occur. This appears to be more likely in patients with aggressive initial disease who progressed to end-stage kidney disease in less than three years after the onset of HSP. Therefore it is recommended the transplantation to be delayed for 12-24 months after the disappearance of the rash. Some observations suggest that the risk of recurrent disease also may be higher in living-related donors.

Hypersensitivity Vasculitis

Hypersensitivity vasculitis is often used to describe different types of vasculitis related to drug reactions, skin disorders or allergic vasculitis; however this is not always the correct use of the term.

Given the wide range of symptoms, the varying definitions and frequent incorrect use of the term, the American College of Rheumatology made a list of criteria for the classification of hypersensitivity vasculitis. Three or more of these criteria are needed to determine that a patient with some form of vasculitis is defined as specifically having hypersensitivity vasculitis. The criteria are:

(1) older than 16 years of age

(2) use of a drug before the development of symptoms

(3) skin rash

(4) biopsy of the skin rash that shows neutrophils, a type of white blood cells, around a small vessel

It should be noted that having three of these criteria does not always distinguish hypersensitivity vasculitis from other forms of vasculitis, particularly when the only or first symptom of vasculitis is a skin rash.

The presence of skin vasculitis, usually red spots, is the main symptom in hypersensitivity vasculitis. A biopsy of these skin spots reveals inflammation of the small blood vessels, called a leukocytoclastic vasculitis.

Hypersensitivity vasculitis may be caused by a specific drug or occur in association with an infection, but it may also be idiopathic, meaning there is no known cause. Although drugs are the most common cause, drug-induced vasculitis is a poorly defined disorder.

There are no symptoms or tests that prove hypersensitivity vasculitis results directly from a particular drug. The drugs that are most frequently listed as being associated with the development of hypersensitivity vasculitis include: penicillin, cephalosporin, sulfonamide, some medicines used to control blood pressure (loop and thiazide-type diuretics), phenytoin and allopurinol. Infections that may be associated with hypersensitivity vasculitis include hepatitis B or C virus, chronic infection with bacteria and HIV virus.

Symptoms: The major symptoms of hypersensitivity vasculitis, in addition to a skin rash, are joint pains and increasing size of lymph nodes. Lymph nodes are located in several places, but particularly along the neck, and supply special cells to the bloodstream that help remove bacteria from the body. In most patients, symptoms begin 7 to 10 days after the exposure to the drug or

infection, but can be as short as two to seven days in some people.

Organ involvement in addition to the skin rash is very rare, but can be severe. Kidney inflammation and even more rarely liver, lung, heart and brain injury have occurred in patients with hypersensitivity vasculitis. The kidney inflammation is usually mild.

Symptoms of kidney involvement may not be noticed by the patient, but can be evaluated by a doctor by looking at a urine sample for small amounts of blood and protein. Kidney failure is not common, but can occur particularly with heavy or prolonged exposure to the suspected drug or infection. Kidney failure can be ‘acute', meaning there is a fast loss of kidney function, but supportive treatment with dialysis (mechanical cleansing of the blood) can be done for a few days or weeks and kidney function returns. In some cases, ‘chronic' kidney failure occurs, meaning that there is an ongoing need for dialysis because the kidneys do not recover their normal function.

Treatment: If a drug may have caused the hypersensitivity vasculitis, then discontinuation of that specific drug usually leads to the disappearance of symptoms within a few days or weeks. If an infection may have caused the hypersensitivity, then treatment of the infection usually results in the disappearance of symptoms.

In some patients, especially those with ongoing infections such as hepatitis B or C, there may be ongoing or ‘chronic' symptoms of hypersensitivity vasculitis. Drugs used to manage the skin rash and joint pains associated with hypersensitivity vasculitis might include corticosteroids and/or nonsteroidal anti-inflammatory drugs.

In patients with more severe or ongoing skin rashes that are not due to infection, drugs such as colchicine, antihistamines, and dapsone (or a combination of these drugs) may be helpful to control symptoms. Patients with disease in organs beyond the skin should be referred to a specialty doctor such as a nephrologist if the kidneys are involved.

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Kawasaki Disease

Kawasaki Disease is a rare vasculitis, which strikes children. Over 4,000 children develop it each year. 80% of patients are under the age of 5. Patients usually begin with a fever that lasts at least five days.

Symptoms may include red eyes, lips, and mouth; rash; swollen and red hands and feet; and swollen lymph nodes. The disorder affects the mucus membranes, lymph nodes, walls of the blood vessels, and the heart. The most important aspect of the disease is the heart's involvement. The disease can cause inflammation of blood vessels in the coronary arteries, which can lead to aneurysms. Kawasaki is the leading cause of acquired heart disease in children.

Cause: There is no known cause of the disease.

Symptoms: Kawasaki disease often begins with a high and persistent fever greater than 102°F, often as high as 104°F. A persistent fever lasting at least five days is considered a hallmark sign. The fever may persist steadily for up to two weeks and is not very responsive to normal doses of acetaminophen or ibuprofen.

Diagnosis is usually based on evaluation of classic symptoms. Possible diagnostic tests include a complete blood count (CBC), ESR, Electrocardiogram, Echocardiogram, Chest x-ray and urinalysis.

Immediate treatment is critical to avoid permanent damage to the coronary arteries and heart. Standard treatment includes high doses of Intravenous gamma globulin. The patient's condition usually greatly improves within 24 hours of treatment.

With early recognition and treatment, full recovery can be expected. However, 2% of patients die from complications of coronary blood vessel inflammation. Patients who have had Kawasaki disease should have an echocardiogram every 1-2 years to screen for heart problems.

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Microscopic Polyangiitis (MPA)

Microscopic polyangiitis (MPA) is an inflammation of the medium and small vessel walls that can affect different parts of the body including (but not limited to) the kidney, lungs, sinuses. Patients with MPA usually have the disease in their kidney and it is essentially indistinguishable from the kidney disease that patients with classic Wegener's granulomatosis (WG) often have.

The principal difference between MPA and WG is the absence of a specific type of inflammation called granulomatous inflammation that is what distinguishes WG from other forms of vasculitis, although the clinical features are similar in these two diseases. Patients presenting with kidney disease in the absence of disease in other parts of the body are generally classified as "renal-limited" vasculitis.

In the United States, the typical MPA patient is a middle-aged white male or female, but in fact the disease may occur in people of all ages, both genders, and all ethnic backgrounds.

The presenting symptoms include fever, joint and muscle pains, weakness, lack of energy and weight loss. Hematuria, the abnormal presence of blood in the urine, swelling and a decrease in the amount of urine may be manifestations of renal involvement which is one of the most frequently involved organs in MPA. In fact approximately 90% of patients with MPH have involvement of their kidneys (called glomerulonephritis, as called because the inflammation affects the part of the kidney that filters fluid to make urine and is called the glomerulous). Lung symptoms like shortness of breath, coughing up blood, and/or chest pain are experienced in about half of the patients. MPA is the most common cause of the so called pulmonary-renal syndrome, which is the common combination of inflammation and disease symptoms in both the lung and the kidney.

In MPA the symptoms of the upper airway (sinuses, ears) can occur, but are less common or milder than kidney or lung symptoms. The eyes and the nervous system can also affected by the disease. A skin rash, usually with purplish bumps and spots mostly in the lower extremities, is sometimes seen. The stomach and intestinal tract can also be affected by the disease, resulting in pain or an alteration of the color of stools into black or bright red as a result of bleeding.

Over 80% of patients with MPA have ANCA.

The diagnosis of MPA is established with the biopsy, a small piece of tissue that is taken from the affected organ(s). The biopsy tissue is looked at under microscopes and reveals vasculitis. A skin or kidney biopsy is typically preferred, but can also be done in other organs such as the intestine.

The treatment of MPA is essentially the same as in WG especially when the major organs injured by the disease are the kidney and/or lung.

Induction therapy is the initial step for all patients diagnosed with MPA in order to reduce the inflammation of the disease. A minimum of three to six months induction phase is needed for most patients to reduce or get rid

of the inflammation, which is often known as ‘getting the disease into remission."

Maintenance therapy is the following step and is meant to keep the disease in remission as long as possible and therefore reduce the chance that the inflammation will return (called a disease relapse). Maintenance therapy can be continued for 12 to 18 months, sometimes longer. For patients who never completely get their disease into remission or who experience several disease relapses, ongoing maintenance therapy may be continued indefinitely.

Immunosuppressive regimens used in the induction phase of treatment usually include a combination of corticosteroids (prednisone) with either daily oral cyclophosphamide (Cytoxan) or monthly intravenous (given into a vein at a doctor's office or hospital) cyclophosphamide (Cytoxan).

Low-dose weekly oral methotrexate has been tried in patients with MPA without severe inflammation from the disease. Corticosteroids monotherapy is not generally considered for remission induction, since the reported remission rate is much lower. Patients who are dialysis-dependent at presentation seem to benefit from plasmapheresis. Although no controlled studies have been performed, patients with pulmonary hemorrhage may be treated with plasmapheresis also.

Maintenance therapy includes immunosuppressive agents such as mycophenolate mofetil, Rituximab, azathioprine, methotrexate, Cyclosporine, etanercept. Trimethoprim-sulfamethoxazole is an antibiotic agent used also relating with the fact that disease activity has been associated with both infection and the chronic nasal carriage of Staphylococcus aureus.

Treatment-associated toxicity: Cyclophosphamide treatment is associated with important toxicity. Women may stop having their menstrual cycles (periods) and men may have lowered or no sperm produced; either of which may not return to normal even after stopping treatment.

Inflammation of the bladder (cystitis), bladder cancer, myelodysplasia, (disorder of the function of the bone marrow, the part of the bone related to the production of blood cells) and lymphoma (type of cancer of the lymph nodes) can also occur with use of this drug. Some studies suggest that monthly intravenous cyclophosphamide (given by vein) may be as effective as daily oral treatment with the same drug in controlling symptoms and reducing inflammation, while reducing the overall cumulative dose and chance of side effects.

Long-term use of corticosteroids use can include cataracts (a clouding of the natural lens, the part of the eye responsible for focusing light and producing clear, sharp images), diabetes mellitus (disorder of the glucose levels in blood), osteoporosis (thin bones), fractures (small breaks in bones), aseptic necrosis of bone (condition in which poor blood supply to an area of bone leads to bone death) and severe pain and inflammation of the stomach.

Pneumonia and other infections are serious complications of any mmunosuppressive therapy, including cyclophosphamide and corticosteroids.

Prophylaxis: Given the toxicities of cyclophosphamide, prophylactic therapy is usually provided with specific drugs to help prevent specific types of pneumonia, permanent loss off periods (menstrual cycles) in women of child-bearing, and bladder cancer.

Given the toxicities of prolonged steroid use, prophylactic treatments may also be provided to help prevent for mouth infections, stomach pain and inflammation and bone loss.

The major lifetime effects in patients with MPA result from the combined effects of irreversible organ damage (such as kidney failure or lung scarring from the disease as well as the consequences of the cumulative dose and total period of each immunosuppressive therapy, whether utilized for initial disease, maintenance of remission, or management of relapses of the disease. Therefore the natural history of the disease is diverse among patients.

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Polyarteritis Nodosa (PAN)

Polyarteritis Nodosa (PAN) is a vasculitis disease, which affects the small and medium-sized arteries. PAN commonly affects the skin, heart, kidneys and central nervous system.

Cause: There is no known cause of PAN.

Symptoms include fever, fatigue, weakness, loss of appetite, and weight loss. Muscle and joint aches are common. The skin may show rashes, swelling, ulcers, and lumps.

Other symptoms include abdominal pain and gastrointestinal bleeding (occasionally is mistaken for inflammatory bowel disease). Nerve involvement may cause sensory changes with numbness, pain, burning, and weakness. Central nervous system involvement may cause strokes or seizures. Kidney involvement can produce varying degrees of renal failure. Involvement of the arteries of the heart may cause a heart attack, heart failure, and inflammation of the sack around the heart (pericarditis).

There is no specific test to diagnosis PAN. Diagnosis is based upon physical examination, lab tests and biopsy of affected area. Most patients with PAN have elevated ESRs. Proteinuria (protein in the urine) is common among patients with kidney involvement.

The American College of Rheumatology 1990 criteria for the classification of Polyarteritis Nodosa

Weight loss of > 4 kg since beginning of illness
Livedo reticularis
Testicular pain or tenderness
Myalgias, weakness, or leg tenderness
Mononeuropathy or polyneuropathy
Development of hypertension
Elevated BUN or creatinine unrelated to dehydration or obstruction
Presence of hepatitis B surface antigen or antibody in serum
Arteriogram demonstrating aneurysms or occlusions of the visceral arteries
Biopsy of small or medium-sized artery containing granulocytes

Treatment will vary based on patient symptoms, disease activity, organ involvement and lab test results.

Treatment of PAN has improved dramatically in the past couple of decades. Before the availability of effective therapy, untreated PAN was usually fatal within weeks to months. Most deaths occurred as a result of kidney failure, heart or gastrointestinal complications. However, effective treatment is now

available for PAN. After diagnosis, patients are treated with high doses of corticosteroids. Other immunosuppressive drugs are also added for patients who are especially ill. In most cases of PAN now, if diagnosed early enough the disease can be controlled, and often cured.

The newly proposed regimen for patients with PAN associated with hepatitis B, consists of 2 weeks of prednisone to control the vasculitis, followed by plasmapheresis to remove immune complexes, and accompanied by antiviral therapy with lamivudine to rid the patient of the hepatitis B infection. The long-term value of anti-viral therapy for polyarteritis nodosa associated with hepatitis C is not established.

Polymyalgia Rheumatica (PMR)

Polymyalgia rheumatica (PMR) is a condition that is frequently linked to giant cell arteritis (GCA) (link). PMR occurs in about 50 % of patients who have GCA, while approximately 15% of patients with PMR develop GCA. There may be a common genetic component between the two disorders. PMR is almost exclusively a disease that affects older adults and is rarely diagnosed in people under the age of 50 years.

Symptoms: Symptoms of PMR almost always include aching and morning stiffness in the shoulders, hips, neck and mid-body. These symptoms usually affect both sides of the body the same, but can be stronger on one side than the other. Having difficulty with pain, stiffness and movement of the shoulders and hips can result in trouble with things such as getting dressed. Some patients also complain of general tiredness, weakness, weight loss (without trying to lose weight), and a low fever (a high spiking fever is rare).

Inflammation in the bones and joints cause the discomfort and stiffness (difficulty in moving) found among patients with PMR. Some patients develop swelling or fluid retention (edema) of the hands, wrists, ankles, and top of the feet. The edema usually occurs with other signs of PMR but can be the only symptom experienced.

Decreased ability to fully move the shoulders, neck and hips is frequent. Muscle strength is usually normal and the tenderness found about the shoulders is more likely due to inflammation in the shoulder bones. However, muscle weakness may become a problem over time because of the lack of use due to pain and stiffness.

The characteristic laboratory finding in both PMR and GCA is an elevation in the erythrocyte sedimentation rate. This rate measures how fast a patient's red blood cells settle when placed in a small tube.

Routine x-rays (radiographs) of joints with the disease rarely reveal any abnormalities, while magnetic resonance imaging (MRI) examinations can confirm the presence of inflammation. Ultrasounds and Positron emission tomography (PET scanning) have also been used to confirm the PMR inflammation.

Since there is no specific test for PMR, a checklist that requires a certain group of symptoms and laboratory characteristics is used by doctors to make the diagnosis.

There is considerable overlap between PMR and GCA but patients with "pure" PMR lack the symptoms of GCA. Thus, a biopsy of the temporal artery, which is diagnostic for GCA, is not necessary in patients with PMR unless there are symptoms suggestive of GCA.

Treatment: The beneficial effect of corticosteroids (predinsone) in patients with PMR has been established by a combination of clinical experience and several research studies. Initial treatment most often starts with a dose of prednisone between 7.5 and 20 mg/day. Patients usually respond quickly but the dose is increased if the symptoms are not well controlled within one week. In some patients a single daily dose of prednisone does not provide relief from evening or night-time pain or stiffness while a divided dose (2 times a day, usually 12 hours apart) may be more helpful in reducing symptoms. The effective steroid dose is maintained for 2-4 weeks after the symptoms have resolved. The dose is then gradually lowered and stopped, with careful monitoring for return of symptoms.

Return of symptoms (relapse) occurs in as many as 25-50% of patients. Relapse is more likely to occur if the steroid dose is decreased too fast. If symptoms return, restarting or increasing the dose of corticosteroids is appropriate.

Side effects with corticosteroids: The risk of diabetes (abnormal glucose blood levels) and risk of fractures (small cracks) in the bones of the back, hip and neck are increased, especially with frequent use of this therapy. In patients who require corticosteroid treatment for more than six months, an assessment of bone density is suggested to test for osteoporosis (loss of bone thickness). To help protect bones from fractures and osteoporosis, calcium and vitamin D are often taken regularly, and sometimes drugs such as bisphosphonates are given.

In patients who have side-effects from or a long history of taking corticosteroids, the use of methotrexate may allow the corticosteroid dose to be eliminated or lowered, however this has only been suggested by some, but not all, studies. Anti-inflammatory drugs such as ibuprofen can also be used to decrease painful symptoms, especially when symptoms are only mild, and may also help avoid use of corticosteroid treatment

Effort must be focused at control of symptoms with a minimum of drug-induced side effects. In most patients, symptoms of PMR will eventually end (over a period of months to years) and corticosteroid therapy can be discontinued.

Rheumatoid Vasculitis (RV)

Rheumatoid vasculitis (RV) refers to patients with rheumatoid arthritis, a chronic disease with painful inflammation of the joints, who also develop inflammatory disease in small and medium-sized blood vessels. RV most commonly occurs in the skin as venulitis or capillaritis, meaning the very smallest blood vessels are affected by inflammation from the disease. RV occurs in approximately 2 to 5 % of patients who have rheumatoid arthritis.

The reason why RV develops in some patients with rheumatoid arthritis and not others is not clear. Genetic factors may be involved. Viral infections and drug reactions have been suggested as causes of RV, but there is little research to support this. Some research suggests that long time use of drugs such as corticosteroids, gold compounds, penicillamine and azathioprine that are used to treat rheumatoid arthritis can cause the development of RV. However, this may not be true and difficult to determine because more use of these drugs is probably because of more severe or long standing rheumatoid arthritis, both of which may also be associated with the development of RV.

RV typically occurs in patients who have had rheumatoid arthritis for a long time. In one study, for example, the average time between the diagnosis of rheumatoid arthritis and the onset of RV symptoms was 13.6 years. Patients with rheumatoid arthritis seem more likely to develop RV when they have high rheumatoid factor levels (a specific laboratory finding for rheumatoid arthritis) and disease of at least one year's duration. Males with rheumatoid arthritis are more likely (2 to 4 times more likely) than females with rheumatoid arthritis to develop RV.

The manifestations of RV can involve many of the body's organs, including the skin, nerves to the hands and feet, blood vessels of the fingers and toes, and the eyes. Skin vasculitis is the most common manifestation of RV, occurring in as many as 90% of patients. Inflammation of the small blood vessels in the skin results in the development of red spots on the skin. When the eyes are involved, there is usually inflammation of the white part of the eye (scleritis).

The heart can also be affected by the disease, which can cause inflammation of the external part of the heart (pericarditis) and abnormal heart rate (arrhythmia). These symptoms put these patients at a higher risk for having a heart attack (myocardial infarction).

Patients with rheumatoid arthritis should see a physician if they develop new or worsened symptoms such as weight loss, fever, and lack of energy, any new symptoms beyond the usual joint symptoms. A blood test for specific antibodies that are directed against the inner layer of blood vessels (endothelial cells) are present in approximately 75% of patients with RV compared to only 15to 20%

of those with rheumatoid arthritis alone. Therefore, this blood test may be checked regularly in

patients with any of these new or worsened symptoms.

Diagnosis: Many of the drugs used to treat RV have a number of side effects; therefore it is important to be sure of the diagnosis before treatment is started (see treatment section below). The diagnosis of RV almost always requires a biopsy of tissue affected by the disease; an inflamed nerve or a kidney if there are clinical signs of kidney involvement, for example.

In rare cases RV may affect large blood vessels. If this happens or your doctor thinks it may have happened, then ‘pictures' will be taken so that the vessels can be evaluated. Some of these pictures require that you drink something called ‘contrast' material. This material shows up on the picture and helps to show different parts of the inside of your body. This test is called contrast angiography and is especially useful to help determine the location and appearance of large vessels that may be affected by the disease.

Biopsy-proven RV, even if only in one organ, requires aggressive therapy. The limited data specifically related to RV suggest that most such patients should be treated with the same or similar drugs that are used in other primary systemic vasculitides such as combination therapy with cytotoxic drugs (usually cyclophosphamide) and corticosteroids. Cyclophosphamide given through the veins (intravenous) once a month has been used with success, although daily oral therapy with the same drug may also be effective.

A variety of different types of corticosteroid treatment have been used. Patients with aggressive RV disease are usually begun on pulse methylprednisolone (corticosteroids given through the veins once a day for several days) followed by daily oral prednisone. Other drugs have been explored in patients with RV. Some patients have done well with azathioprine and corticosteroids. However azathioprine may be better used to maintain a remission after initial cyclophosphamide therapy helps to control the disease and its symptoms. Methotrexate and tumor necrosis factor (TNF), also known as infliximab, have also been used. However, some patients have developed RV while on these drugs for the treatment of rheumatoid arthritis. Since RV most often occurs when there is very active rheumatoid arthritis, aggressive treatment usually helps to control symptoms of both rheumatoid arthritis and vasculitis.

Supportive care is also very important. Smoking has been associated with an increased

risk for rheumatoid arthritis and for RV. Therefore smoking cessation is essential in any rheumatoid arthritis patient, especially those with RV. Good skin care may also prevent infectious complications of skin rashes in RV.

Limited data are available concerning the outcome of patients with RV, although they usually have worse and more ongoing symptoms than those with rheumatoid arthritis who do not have RV.

Takayasu's Arteritis (TA)

Takayasu's arteritis (TA) is a vasculitis that is found more commonly in women than in men, with 80% to 90% of people with the disease being women. People who get the disease are usually between the ages of 10 and 40 years when the disease starts. The disease affects people around the world, but is most common in Asians, especially in Japan.

TA primarily affects the aorta, the major vessel that carries blood that supplies oxygen to the body. Inflammation from the disease may be localized to one small part of the aorta, or may involve the entire length of the vessel. As the disease progresses, other major blood vessels may also become affected with inflammation. The abdominal aorta, the part of the aorta that runs through the middle of the body and supplies blood to the stomach area, and lung arteries are involved in about one half (50%) of patients. The inflammatory process causes the walls of the aorta to become thick, which makes it difficult for blood to flow easily. This can cause many different symptoms because it depends on where in the body the blood flow is affected and which organs may not get all the blood that they need to work right.

The cause of or reason that TA develops is not understood, although genetics have been associated with increased frequency in several studies.

Symptoms: Symptoms that are common when TA first develops include lack of energy, weight loss, weakness and low-grade fever. Symptoms that affect the blood vessels take time to develop. As the disease progresses the arms and legs may become cool, and pain may develop with use. Other symptoms include joint pain, muscle weakness and pain, and skin lesions. Symptoms of the disease can also include chest pain, shortness of breath and coughing up blood if the lungs become affected. Shortness of breath can develop if the heart is affected. Anemia (low blood count) is present in most patients and results in a general feeling of weakness and tiredness.

Involvement of the major blood vessel that carries blood to the head and brain (the carotid artery) causes decreased blood flow that can lead to dizziness, fainting, headaches, seizures and difficulties thinking and remembering. Difficulty with seeing may also develop. Stomach pain, diarrhea, and stomach bleeding can result from inflammation in the stomach or intestines. Inflammation of the vessels that supply the heart (coronary arteries) can cause chest pain and puts patients at higher risk of having a heart attack (myocardial infarction).

Diagnosis: In order for doctors to see what is happening to the aorta and other blood vessels, several different types ‘pictures' may be taken. Radiography (x-ray) of the chest may be used to look for changes in the aorta. Other types of pictures require that you drink or be given a shot of

something called ‘contrast' material. This material shows up on the picture and helps to show different parts of the inside of your body. These tests are called contrast angiography or arteriography, and they are especially useful to help determine the location and appearance of vessels affected by the disease.

Computed tomographic (CT) or magnetic resonance (MR) imaging scans of the chest, abdomen, head and neck, or other areas may also be used, particularly so that doctors can evaluate large arteries. Positron emission tomography (PET scanning) can also be used to take pictures of the aorta and other large vessels. Several of these types of tests and pictures may be needed in order to diagnose and manage TA.

The main drug used for treatment of TA is corticosteroids, also known as glucocorticoids. Treatment with this medicine usually stops this disease from getting worse by reducing the inflammation associated with the disease. However, use of this medicine, especially for long periods of time, can cause many adverse reactions or side-effects.

Approximately one-half of all patients with TA have disease that is ongoing and does not get completely better with the use of corticosteroids. When this is the case, other drugs such as methotrexate, cyclophosphamide, and azathioprine may reduce inflammation and be helpful in controlling symptoms of the disease. A new drug that may be helpful for patients with TA who do not get better with the treatments listed above is called an anti-tumor necrosis factor alpha (anti-TNF) agent. However, there are not many studies of this type of drug in this disease, although a large study is planned.

Several types of medical procedures may be used to help repair damaged blood vessels and to restore blood flow if major damage from the disease occurs. Angioplasty is a medical procedure in which a balloon is used to open narrowed or blocked blood vessels. A by-pass graft may also be done, which is a surgery performed to redirect a clogged or severely damaged vessel.

Prognosis: TA is a chronic disease. The degree of new disease involvement over time can be quite different between patients, and the inflammation may never completely go away. In some patients the disease eventually ‘burns out' and symptoms and inflammation do not ever return.

Wegener's Granulomatosis (WG)

Wegener's Granulomatosis (WG) is an uncommon disease that affects about 1 in 20,000 to 1 in 30,000 people. Symptoms are due to inflammation that can affect many tissues in the body, including blood vessels (vasculitis). It is also considered a disease of abnormal immune function.

There is no known cause of WG; but it is not contagious, and there is no evidence it is hereditary. It is systemic, meaning it affects the body as a whole. It affects the upper (sinuses and nose), and lower (lungs), respiratory system and frequently involves the kidneys, lungs, eyes, ears, throat, skin and other body organs. For reasons not clear, blood vessels in those areas may become inflamed and clusters of certain cells (granulomas) may occur.

WG is an uncommon disease, which can occur at any age. It most often occurs in the 4th and 5th decade of life. Patients are divided equally between males and females. It appears that Caucasians are far more commonly affected than other racial groups.

Onset of WG may be indolent, slow moving with few symptoms, or have a rapid and severe onset. About 90% of patients have symptoms of a 'cold' ' 'runny nose' or sinusitis that fail to respond to the usual therapeutic measures and last considerably longer than the usual upper respiratory tract infection. Other symptoms include nasal membrane ulcerations and crusting, saddle-nose deformity, inflammation of the ear with hearing problems, inflammation of the eye with sight problems, cough (with or without the presence of blood), pleuritis, (inflammation of the lining of the lung), rash and/or skin sores, fever, lack of energy, weakness, fatigue, loss of appetite, weight loss, arthritic joint pain, night sweats, and blood in urine which may or may not be indicated by a change in urine color.

Be aware that not all WG patients experience all symptoms. Different patients experience different symptoms, and the severity of the disease is also different for each WG patient. If any of the above symptoms persist, consider a possible diagnosis of WG and arrange to have a complete evaluation, including health history, physical exam, laboratory studies, including a urinalysis and an ANCA test.

Diagnosis is established by clinical and laboratory findings such as the ANCA blood test, other blood and urine tests, x-rays, and tissue biopsy, if needed.

The treatment of WG can be divided into two stages: firstly, the induction of disease remission, and secondly, the maintenance of disease remission. Medication usually consists of cytotoxic agents (a form of chemotherapy), using relatively low doses of Cyclophosphamide (Cytoxan),

and/or Methotrexate and/or Azathioprine (Imuran), and glucocorticoids (Prednisone).

Treatment will vary based on patient symptoms, disease activity, organ involvement and lab test results. Patients with kidney involvement and more severe WG are commonly prescribed Cyclophosphamide and Prednisone as initial treatment. Ideally, the use of Cyclophosphamide will be limited to a three to six month period and then replaced, based on kidney function, by Methotrexate or Azathioprine.

Those with milder forms of WG are commonly prescribed Methotrexate and Prednisone. These medications will be reduced over time, and even eliminated, if the patient remains in a stable remission. WG patients may also be prescribed calcium supplements and other medications to prevent osteoporosis from extended prednisone use. Many patients will also be prescribed the antibiotic Bactrim to help prevent secondary lung infections with a dangerous "bug" called Pneumocystis carinii pneumonia (PCP). In addition, there is some evidence that Bactrim, used cautiously, can have the beneficial effects of reducing relapses and upper airway infections.

Effective treatment should include a "team approach" with medical specialists according to the patient's organ involvement. It is common for a WG patient to regularly see the following Doctors: Nephrologist (Kidney), Otolaryngologist (Ear, Nose/Sinus, Throat), Ophthalmologist (Eye), Pulmonologist (Lung), and always a Rheumatologist or Immunologist. Other specialists are involved as needed.

There is no cure for Wegener's Granulomatosis, but early diagnosis and proper treatment will be effective and the disease can be brought into remission with complete absence of all signs of disease.

Long-term remission can be induced and maintained with medications, close management and regular lab tests to help monitor the disease. Treatment can produce symptom-free intervals of 5 to 20 years or more. Some patients will achieve a drug-free remission. However, relapses are common but can be caught at their earliest and most treatable stage, for most patients, by paying attention to patient symptoms and lab tests. WG patients in remission must not hesitate to see a doctor if any WG symptoms return or if they are not feeling well.

Research into new medications, treatment options and the cause of WG are being investigated at leading medical centers throughout the world.

French Brochures - Vasculitis Foundation Soutine - Information - Recherche

Qu’est-ce qu’une vascularite ?

Une vascularite est définie par l’existence d’une inflammation des vaisseaux sanguins, c’est-à-dire des artères, veines et/ou capillaires. Les parois des vaisseaux deviennent alors anormalement épaisses ou, à l’inverse s’amincissent et se dilatent. Le flux sanguin est alors perturbé et se ralentit, et des caillots peuvent se former, qui finissent par boucher les vaisseaux atteints.

Les organes ou tissus irrigués par ces vaisseaux malades ne sont donc plus suffisamment oxygénés et peuvent souffrir. On parle de souffrance ischémique, qui peut aller jusqu’à une nécrose de l’organe ou du tissu atteint.

Le groupe des vascularites comporte en fait plusieurs maladies différentes, qui sont toutes rares. Elles sont classées en fonction de la taille et de la localisation des vaisseaux atteints. Elles peuvent toucher des individus de tous les âges. Certaines sont bénignes et guérissent spontanément, mais la plupart d’entre elles nécessitent des traitements spécifiques. Elles mettent parfois en jeu le pronostic vital. La durée des traitements varie d’une maladie à l’autre, mais peut parfois être très prolongée, pendant plusieurs années, voire à vie.

Leurs causes sont pour la plupart totalement inconnues, mais avec les progrès effectués en médecine ces 20 dernières années, il existe en tout cas aujourd’hui des traitements qui ont permis d’en améliorer de façon très significative l’évolution.

La poursuite des recherches biomédicales et thérapeutiques dans le domaine des vascularites reste essentielle pour en améliorer la prise en charge et finalement en guérir.

A quel âge peut-on voir apparaître une vascularite ?

Les vascularites peuvent survenir à tous les âges de la vie, aussi bien chez l’enfant que chez la personne âgée. Certaines tranches d’âge sont cependant davantage touchées en fonction du type de vascularite concernée.

Quels sont les symptômes des vascularites ?

Les manifestations cliniques sont très variables d’un patient à l’autre et d’une vascularite à l’autre. Les signes les plus fréquents qui doivent faire penser à ces maladies, lorsqu’ils sont associés, sont :

- la fatigue

- une sinusite chronique traînante

- une toux et/ou un essoufflement au moindre effort

- une bronchite ou une pneumonie traînante

- un asthme difficile à contrôler ou d’apparition tardive dans la vie

- des douleurs articulaires

- des douleurs abdominales et/ou des saignements digestifs

- des problèmes rénaux (présence de sang ou d’albumine dans les urines)

- des problèmes neurologiques (maladresse, perte de la force musculaire dans les mains et/ou les pieds, engourdissements)

- difficultés ou troubles visuels

- maux de tête inhabituels

- éruptions cutanées

- fièvre

Vessels Diagram

Quelle est la cause de ces vascularites ?

Dans la majorité des cas, on ne connaît pas la cause de ces maladies. Il s’agit pour la plupart d’entre elles de maladies auto-immunes, c’est-à-dire liéed à un emballement du système immunitaire naturel qui, en plus de défendre normalement l’organisme contre d’éventuels agents infectieux, s’attaque aussi et par erreur aux cellules du patient lui-même. Ce dérèglement du système immunitaire est probablement provoqué par la combinaison de plusieurs facteurs, comme l’exposition à des agents de l’environnement (certaines poussières par exemple) ou à certaines infections (comme le virus de l’hépatite B ou C), et d’un terrain génétique prédisposant, qui à lui seul n’est pas suffisant pour déclencher la maladie.

Comment fait-on le diagnostic de ces vascularites ?

Le diagnostic de vascularite peut être fortement suspecté par le médecin devant la combinaison de plusieurs signes cliniques et des résultats d’examens complémentaires, tests sanguins et urinaires, bilan radiologique, comportant des radiographies des poumons et des sinus, un scanner ou parfois une angiographie. D’autres tests plus spécifiques, comme la recherche de certains auto-anticorps peuvent aussi aider à faire le diagnostic. La biopsie d’un tissu ou d’un organe atteint, lorsque cela est possible, peut permettre un diagnostic plus précis.

Peut-on guérir d’une vascularite ?

Un diagnostic précoce suivi d’un traitement adapté, prescrit par des médecins qui connaissent bien ces maladies, permettent dans la majorité des cas d’obtenir ce que l’on appelle une rémission, c’est-à-dire une disparition de tous les signes cliniques d’activité de la maladie. On ne parle pas encore de guérison à ce stade car un certain nombre de patients peut faire des rechutes et ce pendant encore plusieurs années. Selon la vascularite concernée, des traitements prolongés sont donc parfois nécessaires pour limiter ce risque de rechute.

Quel est le traitement des vascularites ?

Le traitement varie en fonction du type de vascularite concernée et de la sévérité des atteintes constatées. Il est également adapté à l’état général du patient, pour en limiter les effets secondaires potentiels. Les traitements comportent souvent des corticoïdes et/ou des médicaments immunosuppresseurs, mais parfois aussi des antibiotiques, des échanges plasmatiques ou des perfusions d’agents dits ‘biologiques’, par exemple des anticorps dirigés spécifiquement contre certains globules blancs (anticorps monoclonaux) ou des immunoglobulines intraveineuses.

Les principes fondateurs de l’association

Aider la recherche médicale et améliorer l’information dans le domaine des vascularites systémiques, afin de permettre un diagnostic précoce de ces maladies et la mise en œuvre rapide d’un traitement approprié et efficace.

Association fondée en Mai 1986.

A propos de la Vasculitis Foundation

La Vasculitis Foundation (VF, auparavant Wegener’s Granulomatosis Association) a été fondée en 1986 par Marilyn Sampson, une patiente atteinte de granulomatose de Wegener, infirmière de métier.

La VF s’était donnée comme mission première de lever l’isolement et la sensation de solitude ressentie par les patients atteints de ces maladies rares et graves, et de leurs familles. La VF aide ainsi les patients et leur proches à lutter plus efficacement contre ces maladies, en les aidant à rester positifs et optimistes dans leur avenir, à travers notamment le partage de leur vécu de la maladie avec de nombreux patients qui sont guéris ou en voie de guérison.

Soutien / Information / Recherche

Un diagnostic précoce et la mise en œuvre rapide d’un traitement approprié et efficace peuvent améliorer le pronostic de ces maladies. Les objectifs de la VF, à travers son site internet, ses publications périodiques bimensuelles, ses brochures d’information, ses contacts étroits avec de nombreux chercheurs et médecins spécialistes, ses réunions, ainsi que par la création et le soutien de nombreux groupes de patients à travers le monde, sont d’améliorer la connaissance, d’aider à promouvoir la recherche, et de pouvoir fournir toutes les informations nécessaires, dans le domaine des vascularites, aux patients, à leur famille et à leurs amis pour leur permettre de mieux combattre la maladie.

La VF soutient également la recherche médicale, grâce aux cotisations de ses membres et à leurs dons, par l’attribution de bourses et prix annuels pour aider à financer des programmes de recherche épidémiologique, d’identification des causes et des mécanismes des vascularites, et de développement de nouvelles thérapeutiques stratégies thérapeutiques. A ce jour, plus de 12 projets de recherche ont ainsi pu être soutenus financièrement.

Experts médicaux

De nombreux médecins spécialistes et experts dans le domaine des vascularites ont accepté, à travers le monde entier, de rédiger des articles pour la VF, d’aider et de soutenir l’association. Ils ont notamment accepté que leur adresse soit mise sur le site et dans les publications de la VF en tant qu’experts pouvant donner gratuitement à tout médecin le souhaitant des conseils, des recommandations, ou un simple avis pour la prise en charge de tout patient atteint de vascularite.

www.VasculitisFoundation.org

Les Vascularites Systémiques

Angéite cérébrale primitive

Artérite de Takayasu

Artérite giganto-cellulaire (maladie de Horton)

Granulomatose de Wegener

Maladie de Behçet

Maladie de Buerger (thromboangéite oblitérante)

Maladie de Kawasaki

Périartérite noueuse

Polyangéite microscopique

Pseudo-polyarthrite rhizomélique

Purpura rhumatoïde

Syndrome de Churg et Strauss

Vascularite cryoglobulinémique

Vascularite d’hypersensibilité

Vascularite de la polyarthrite rhumatoïde

PO Box 28660

Kansas City, MO 64188

800.277.9474

816.436.8211 Phone/Fax

www.VasculitisFoundation.org

A propos de l’association Wegener Infos Vascularites et du Groupe Français d’Etude des Vascularites

Le Groupe Français d’Etude des Vascularites est un groupe de recherche thérapeutique et biomédicale créé au début des années 80 en France. Ce groupe participe au conseil scientifique de l’association Française des patients atteints de vascularite, Wegener Infos et Vascularites, fondée en Janvier 2006 et qui est le correspondant en France de la VF.

GFEV - Groupe Français d'Etude des Vascularites,

Centre national de référence Maladies systémiques et auto-immunes rares, en particulier les vascularites nécrosantes et la sclérodermie systémique,

Pôle de Médecine du Pr Guillevin,

Hôpital Cochin,

27, rue du faubourg Saint-Jacques

75679 Paris cedex 14,

France

Tél. : 33 1 58 41 14 61 or 33 1 58 41 13 21

Fax : 01 58 41 14 60

E-mail : groupe.vascularite@cch.aphp.fr

Site web : http://www.vascularites.org

WEGENER INFOS ET VASCULARITES

Mr Bernard PIASTRA

Route de Vichy

03120 Isserpent

Tél. : 33 4 70 41 35 58

E-mail : wegener.infos.vascularites@orange.fr

Maladie De Behçet

Qu’est-ce que la maladie de Behçet?
La maladie de Behçet est liée à une inflammation des vaisseaux sanguins, en particulier, mais pas uniquement, les veines.

Quelle est la cause de la maladie de Behçet?
On ne connaît pas la cause exacte de cette maladie. On sait par contre qu’elle n’est pas contagieuse. Il semble exister une prédisposition génétique chez les personnes atteintes, qui expliquerait la sensibilité exagérée de leur système immunitaire à des agents environnementaux ou infectieux, mais ce n’est pas une maladie héréditaire au sens habituel du terme.

Qui sont les personnes atteintes demaladie deBehçet?
La maladie de Behçettouche moins fréquemment les femmes que les hommes, chez qui elle est d’ailleurs souvent plus sévère. Elle est plus fréquente au Moyen-Orient, dans les pays du pourtour méditerranéen et en Asie (route historique des marchands de soie). Au Japon, la maladie de Behçet est la première cause de cécité acquise chez l’adulte.

Quels sont les symptômes de la maladiede Behçet?
La majorité des symptômes est liée à une inflammation des vaisseaux sanguins (vascularite).

Des aphtes buccaux et/ou génitaux ainsi que des lésions de la peau (aphtes cutanés, nodules sous-cutanés ou pustules millimétriques blanches appelées pseudo-folliculites) surviennent par poussées itératives chez plus de 75% des patients.

Une inflammation des yeux peut être constatée au cours de l’évolution de la maladie chez 25–75% des patients (chiffres variables selon les études). Les premiers signes sont des douleurs oculaires, une vision trouble d’un ou des 2 yeux, ou une photophobie (mauvaise tolérance à la lumière avec éblouissement).

Les vaisseaux de petit calibre comme ceux de plus gros calibre peuvent être atteints, ainsi que les vaisseaux du cerveau ou de la moëlle épinière, des jambes (risque de phlébites récidivantes, surtout superficielles), du cœur et/ou des poumons.

Comment fait-on le diagnostic?
De multiples poussées d’aphtes buccaux (> 3 par an) sont évocatrices de la maladie de Behçet. Mais cela ne suffit pour retenir le diagnostic et d’autres signes cliniques doivent être présents, en particulier au moins 2 des manifestations suivantes: des aphtes génitaux récurrents, une atteinte
oculaire, des lésions de la peau et/ou un test pathergique positif (apparition de lésions d’hypersensibilité de la peau après simple piqûre intradermique avec une aiguille fine). Environ 50–70% des patients sont porteurs du gène HLA B51, qui est présent également chez 10–15% des individus totalementsains et indemnes de toute maladie dansla population générale. Il n’existe donc aujourd’hui aucun test totalement spécifique permettant d’affirmer ou de réfuter le diagnostic.

Quel est le pronostic?
Spontanément, la maladie évolue par poussées, imprévisibles. Les traitements permettent de contrôler les symptômes et de limiter la fréquence de ces poussées. La très grande majorité des patients peuvent ainsi mener une vie quasi normale.

Cependant, des manifestations plus sévères peuvent survenir, parfois même après plusieurs mois ou années depuis le diagnostic de la maladie, en particulier au niveau des yeux ou du système nerveux.

Quel est le traitement de la maladie de Behçet?
On peut soigner les symptômes de la maladie de Behçet et limiter la fréquence des poussées, mais pas la guérir. Le traitement comporte de la colchicine, mais aussi des corticoïdes et/ou des immunosuppresseurs lorsque cela est nécessaire, par exemple s’il existe une atteinte ophtalmologique ou cérébrale. Parmi les immunosuppresseurs qui sont utilisés, on peut citer le
cyclophosphamide, l’azathioprine, les anti-TNF-alpha, l’interféron ou la ciclosporine.

Qu’est-ce qu’une vascularite?
Une vascularite est définie par l’existence d’une inflammation des vaisseaux sanguins, artères, veines et/ou capillaires. Le groupe des vascularites comporte plusieurs maladies différentes, qui mettent parfois le pronostic vital en jeu. Leurs causes sont pour la plupart totalement inconnues, mais avec les progrèseffectués en médecine ces 20 dernières années, des traitements existent aujourd’hui qui ont permis d’en améliorer de façon très significative l’évolution.

La poursuite des recherches biomédicales et thérapeutiques dans le domaine des vascularites reste essentielle pour en améliorer la prise en charge et finalement en guérir.

A propos de la Vasculitis Foundation
La Vasculitis Foundation (VF, auparavant Wegener’s Granulomatosis Association) est la plus importante association internationale de soutien et d’information des patients atteints de vascularite et de leur entourage.

Les objectifs de la VF, à travers son site internet, ses publications périodiques, ses brochures d’information, ses contacts étroits avec de nombreux chercheurs et médecins spécialistes, ses réunions, ainsi que par la création et le soutien de nombreux groupes de patients à travers le monde, sont d’améliorer la connaissance, d’aider à promouvoir la recherche, et de pouvoir fournir toutes les informations nécessaires, dans le domaine des vascularites, aux patients, à leur famille et à leurs amis pour leur permettre de mieux combattre la maladie.

A propos de l’association Wegener Infos Vascularites et du Groupe Français d’Etude des Vascularites

Le Groupe Français d’Etude des Vascularites est un groupe de recherche thérapeutique et biomédicale créé au début des années 80 en France. Ce groupe participe au conseil scientifique de l’association Française des patients atteints de vascularite, Wegener Infos et Vascularites, créée en Janvier 2006 et qui est le correspondant en France de la VF.

Maladie De Buerger