Behcet's disease

Overview

Behcet's (beh-CHETS) disease, also called Behcet's syndrome, is a rare disorder that causes blood vessel inflammation throughout your body.

The disease can lead to numerous signs and symptoms that can seem unrelated at first. They can include mouth sores, eye inflammation, skin rashes and lesions, and genital sores.

Treatment involves medications to reduce the signs and symptoms of Behcet's disease and to prevent serious complications, such as blindness.

SYMPTOMS AND CAUSES

The main symptoms include:

• Mouth sores and/or genital sores that keep coming back.
• Skin and joint pain.
• Inflammation in the eyes.
• The brain, nerves, lungs (rare), intestinal tract and kidneys can also be affected.

This disease affects everybody differently. Some of the most commonly affected places it strikes and key features include:

Mouth sores, which occur at some time in all patients. They’re usually recurrent (keep coming back) and painful and affect almost all patients with Behçet's disease. The sores look like the common canker sore, but are more numerous, frequent and painful. They’re often the first symptom that a person notices, and may occur long before any other symptoms appear. Mouth ulcers are seen on the lips, tongue and inside the cheek.

Genital sores look similar to mouth sores and may be painful. They aren’t as common as mouth sores. They appear on the scrotum (the sack enclosing the testes) in men and on the vulva (the external genital organs) in women.

Eye inflammation can cause pain, blurry vision, light sensitivity, tears or eye redness. Behçet's disease may eventually lead to vision loss. Severe eye disease that can cause blindness is more common in the Middle East and Japan than in the United States.

Skin problems are a common symptom. They may look like acne or tender, coin-shaped nodules (erythema nodosum), or ulcers that may be shallow or deep and painful. A red bump or sore may develop if the skin is scratched or pricked. Doctors call this a positive pathergy test.

Joint pain is common. The ankles, knees, elbows and hips are most often affected. Joint inflammation causes swelling, redness and tenderness, though it usually doesn’t cause permanent damage.

Vein inflammation can lead to clots and blockages, or cause a vein to close completely. It can affect both superficial veins (those close to the surface of the skin) and deep veins. It may also affect the largest vein in the body (the vena cava), which could lead to serious health problems. These vein problems are caused by inflammation, not a flaw in the body’s clotting system.

The brain, particularly the meninges (the brain’s covering), could also be affected. Symptoms of inflammation in the brain include fever, headache, a stiff neck and difficulty coordinating movement. A stroke is also possible, which occurs when blood vessels in the brain are either blocked or ruptured.

Gastrointestinal (GI) tract features include abdominal pain or blood in your stool, caused by lesions similar to those seen in the mouth and genital area. Lesions in the GI tract are more dangerous because they can cause the intestine to bleed and/or rupture.

Other organs, like the lungs or kidneys, and large vessels (such as the aorta) can occasionally be affected.

Scientists are still not exactly sure what causes this disease. It may be an autoimmune disorder, meaning the body’s immune system mistakenly attacks healthy tissue with an inflammatory response. Both HLA-B5 and HLA-B51 are gene markers that are sometimes present in patients with Behçet’s disease. But there are some people who have this gene marker who don’t have Behçet’s disease. Researchers are studying other genes related to immune function and think that infections (either bacteria or a virus) may play a role in triggering the disease in some people who have genetic markers that predispose them to Behçet’s.

Genetic and environmental factors are both likely factors in the development of Behçet’s disease.

There are a few different groups of people that are more likely to develop this disease than others, including:

• Those who live in the parts of the world where this disease is the most common.
• 20-40 year old people.
• Those with specific genes (since HLA-B5 or HLA-B51 are present in some patients).
• Men, who are more at risk of developing this disease than women.

Diagnosis

The diagnosis of Behçet’s syndrome is made based on the clinical judgment of a physician. Criteria have been accepted, based upon the identification of recurrent oral ulcerations (aphthous stomatitis) that occur along with at least two of the following: eye lesions, skin lesions, recurrent genital ulcerations, and a positive pathergy test. (During a pathergy test, a physician pricks an individual with a sterile needle. A positive outcome occurs if a reddish spot (nodule or pustule) forms 48 hours after the prick.) However, these criteria have been formed so that patients might be included in clinical studies (“classification criteria”) and are not really “diagnostic” criteria.

Standard Therapies

Treatment

The treatment of Behçet’s syndrome is directed toward the specific symptoms that are apparent in each individual. Specific therapies for Behçet’s syndrome are symptomatic and supportive. Severity of the condition as well as the patient’s age and sex may all affect treatment decisions. Spontaneous remission over time is common for individuals with Behçet’s syndrome.

For recurrent ulcers, the application of corticosteroid-containing preparations to the affected areas may be helpful in aborting developing attacks. Mouthwash containing a local anesthetic such as Xylocaine, lidocaine, or Benadryl may temporarily relieve pain. Arthritis associated with Behçet’s syndrome may be treated with colchicine and nonsteroidal anti-inflammatory drugs (NSAIDs). Continuing therapy with the drug colchicine may be effective in preventing recurring attacks of oral and genital ulcers or arthritis.

Ocular inflammation is treated with eye drops containing corticosteroids to relieve pain. Azathioprine has been used to control the progression of eye disease in people with Behçet’s syndrome. Sulfasalazine, azathioprine, and corticosteroids may be administered to treat inflammatory bowel disease and gastrointestinal lesions associated with Behçet’s syndrome. Central nervous system and vascular abnormalities may be treated with corticosteroids as well, often in conjunction with immunosuppressive agents. In patients with clotting of major blood vessels, systemic anticoagulants and immunosuppressants should be considered.

Inflammation of the joints, skin, and/or mucous membranes or other organs may be reduced with oral corticosteroid drugs. However, corticosteroids do not prevent recurring episodes of symptoms and may not reduce damage when used alone. Therefore, immunosuppressive agents such as azathioprine, methotrexate, cyclosporine, or chlorambucil may be employed for improved control of inflammation and organ protection. Experience is evolving with the use of interferon-alpha and with agents which inhibit tumor necrosis factor (TNF) in the treatment of Behçet’s disease.

Investigational Therapies

There are no FDA approved therapies for the treatment of Behçet’s Syndrome. Immunosuppressive drugs such as azathioprine (Imuran), chlorambucil (Leukeran), cyclophosphamide (Cytoxan), cyclosporine (Sandimmune), interferon alpha, and anti-TNF inhibitors have being studied for use as treatments for the disorder. It has been suggested that cyclosporine may be beneficial for the treatment of oral ulcers, skin lesions, and inflammation of the eyes, but the symptoms of Behçet’s syndrome return quickly when the drug is stopped. Apremilast (Otezla) is currently being studied for use in treatment of recurrent oral and genital ulcerations as well as other manifestations.