Behçet's syndrome is chronic inflammation that can cause painful mouth sores, skin blisters, genital sores, and swollen joints. The eyes, blood vessels, nervous system, and digestive tract may also become inflamed.

• Typically, sores appear, disappear, and reappear in the mouth and on the genitals and skin.
• Doctors base the diagnosis on symptoms and results of a physical examination.
• Corticosteroids, other drugs that suppress the immune system, thalidomide, and colchicine are used to relieve symptoms.

Behçet's syndrome occurs worldwide but is most common in the area along the silk route from the Mediterranean to China. It is uncommon in the United States. It occurs nearly equally in men and women, typically beginning during their 20s. But it can develop at any age. The cause is unknown.

Symptoms

Almost everyone with this syndrome has recurring, painful mouth sores, similar to canker sores. Sores may appear on the tongue, gums, and lining of the mouth. Sores may also appear on the genital organs. Those on the penis, scrotum, or vulva tend to be painful. Those in the vagina may be painless.

Behçet's Syndrome

Other symptoms appear days to years later:

• Eyes: Part of the eye becomes inflamed intermittently. This inflammation (relapsing iridocyclitis or uveitis—see Uveitis) causes eye pain, redness, sensitivity to light, and hazy vision. Several other eye problems can occur. If untreated, blindness can develop.
• Skin: Skin blisters and pus-filled pimples develop in about 80% of people. A slight injury, even a puncture from a hypodermic needle, can cause small red or pus-filled bumps to form.
• Joints: In about half of affected people, the knees and other large joints become painful. This relatively mild inflammation (arthritis) does not progress or damage tissue.
• Blood vessels: Inflammation of blood vessels (vasculitis) throughout the body can cause blood clots to form and bulges (aneurysms) to develop in weakened blood vessel walls. Vasculitis can result in strokes if arteries to the brain are affected. It can cause kidney damage if arteries to the kidneys are affected. If arteries in the lungs are affected, bleeding may occur, and people may cough up blood.
• Digestive tract: Symptoms may range from mild discomfort to severe cramping and diarrhea.
• Central nervous system: Inflammation of the brain or spinal cord is less common but has serious consequences. People may have a headache first. Other symptoms include a fever and stiff neck (symptoms of meningitis), confusion, and loss of coordination. Changes in personality and memory loss may develop years later.

Symptoms can come and go unpredictably, becoming very disruptive. Symptoms or symptom-free periods (remissions) may last weeks, years, or decades. Many people eventually go into remission. Occasionally, damage to the nervous system, digestive tract, or blood vessels is fatal.

Diagnosis

The diagnosis is based on symptoms and results of a physical examination. No laboratory tests can confirm Behçet's syndrome. Doctors suspect the disorder in people, particularly young adults, who have the following

• Recurrent mouth and genital sores
• Characteristic eye problems
• Skin bumps triggered by a slight injury

However, symptoms may resemble those of many other disorders, including reactive arthritis (previously called Reiter's syndrome), lupus (systemic lupus erythematosus), Crohn's disease, herpes, and ulcerative colitis. The diagnosis may take months to make because doctors look for a pattern of symptoms that subside and recur (remissions and relapses) to help identify the syndrome.

Blood and urine tests are done. They cannot identify the syndrome but can confirm that inflammation is present.

Treatment

There is no cure, but treatment can usually relieve specific symptoms. Which drugs are used depends on which organ is affected and how severe the disease is. For example, the following may be used:

• For inflamed eyes and skin sores: A corticosteroid (used to reduce inflammation) can be applied to the eyes or skin.
• For severe inflammation of the eyes or nervous system: Cyclosporine or azathioprine, which are drugs that suppress the immune system (immunosuppressants), may be used when eye inflammation is severe or when prednisone does not adequately control symptoms.
• For mouth and genital sores and joint pain: Colchicine (used to treat gout) can be taken by mouth to prevent new sores. Thalidomide may help mouth, genital, and skin sores heal, but the sores may recur when the drug is stopped. Etanercept, which is a tumor necrosis factor inhibitor (and thus suppresses the immune system), helps prevent new mouth and genital sores. It is given by injection.

Azathioprine may also reduce the number of mouth and genital sores, help sores heal, and reduce joint pain. Cyclophosphamide and chlorambucil are used when other drugs are ineffective or when life-threatening complications develop.

Last full review/revision April 2008 by Carmen E. Gota, MD