Behçet’s Disease

Synonyms

9

Overview

Behçet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behçet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects the mouth, genitals, skin, and eyes.
Painful mouth sores called aphthous ulcers are usually the first sign of Behçet disease. These sores occur on the lips and tongue and inside the cheeks. The ulcers look like common canker sores, and they typically heal within one to two weeks. About 75 percent of all people with Behçet disease develop similar ulcers on the genitals. These ulcers occur most frequently on the scrotum in men and on the labia in women.

Behçet disease can also cause painful bumps and sores on the skin. Most affected individuals develop pus-filled bumps that resemble acne. These bumps can occur anywhere on the body. Some affected people also have red, tender nodules called erythema nodosum. These nodules usually develop on the legs but can also occur on the face, neck, and arms.

An inflammation of the eye called uveitis is found in more than half of people with Behçet disease. Eye problems are more common in younger people with the disease and affect men more often than women. Uveitis can result in blurry vision and an extreme sensitivity to light (photophobia). Rarely, inflammation can also cause eye pain and redness. If untreated, the eye problems associated with Behçet disease can lead to blindness.

Less commonly, Behçet disease can affect the joints, gastrointestinal tract, large blood vessels, and brain and spinal cord (central nervous system). Central nervous system abnormalities are among the most serious complications of Behçet disease. Related symptoms can include headaches, confusion, personality changes, memory loss, impaired speech, and problems with balance and movement.

The signs and symptoms of Behçet disease usually begin in a person's twenties or thirties, although they can appear at any age. Some affected people have relatively mild symptoms that are limited to sores in the mouth and on the genitals. Others have more severe symptoms affecting many parts of the body, including the central nervous system. The features of Behçet diseasetypically come and go over a period of months or years. In most affected individuals, the health problems associated with this disorder improve with age.

Symptoms

Behcet's disease symptoms vary from person to person. It may disappear and recur on its own. Symptoms may become less severe over time. Your signs and symptoms depend on which parts of your body are affected.

Areas commonly affected by Behcet's disease include:

  • Mouth. Painful mouth sores that look similar to canker sores are the most common sign of Behcet's disease. They begin as raised, round lesions in the mouth that quickly turn into painful ulcers. The sores usually heal in one to three weeks, though they do recur.
  • Skin. Skin problems can vary. Some people may develop acne-like sores on their bodies. Others may develop red, raised and tender nodules on their skin, especially on the lower legs.
  • Genitals. People with Behcet's disease may develop sores on their genitals. The red, open sores commonly occur on the scrotum or the vulva. The sores are usually painful and may leave scars.
  • Eyes. Behcet's disease may cause inflammation in the eye — a condition called uveitis (u-vee-I-tis). Uveitis causes redness, pain and blurred vision in one or both eyes. In people with Behcet's disease, the condition and may come and go.
  • Joints. Joint swelling and pain often affect the knees in people with Behcet's disease. The ankles, elbows or wrists also may be involved. Signs and symptoms may last one to three weeks and go away on their own.
  • Vascular system. Inflammation in blood vessels (veins and arteries) may occur in Behcet's disease, causing redness, pain, and swelling in the arms or legs when a blood clot results. Inflammation in the large arteries can lead to complications, such as aneurysms and narrowing or blockage of the vessel.
  • Digestive system. Behcet's disease may cause a variety of signs and symptoms that affect the digestive system, including abdominal pain, diarrhea and bleeding.
  • Brain. Behcet's disease may cause inflammation in the brain and nervous system that leads to headache, fever, disorientation, poor balance or stroke.

Other Symptoms:

  • Abnormality of temperature regulation
  • Arthritis
  • Meningitis
  • Migraine
  • Myalgia
  • Nausea and vomiting
  • Orchitis
  • Photophobia
  • Vasculitis

Causes

The exact cause of Behçet's disease is unknown. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified. However, a particular variation in the HLA-B gene has been strongly associated with the risk of developing Behçet disease. Most symptoms of the disease are caused by inflammation of the blood vessels. Inflammation is a characteristic reaction of the body to injury or disease and is marked by four signs: swelling, redness, heat, and pain. Doctors think that an autoimmune reaction may cause the blood vessels to become inflamed, but they do not know what triggers this reaction. Under normal conditions, the immune system protects the body from diseases and infections by killing harmful "foreign" substances, such as germs, that enter the body. In an autoimmune reaction, the immune system mistakenly attacks and harms the body's own tissues.

Behçet's disease is not contagious; it is not spread from one person to another. Researchers think that two factors are important for a person to get Behçet's disease. First, it is believed that abnormalities of the immune system make some people susceptible to the disease. Scientists think that this susceptibility may be inherited; that is, it may be due to one or more specific genes. Second, something in the environment, possibly a bacterium or virus, might trigger or activate the disease in susceptible people.

Risk factors:

Factors that may increase your risk of Behcet's include:

  • Age. Behcet's disease commonly affects men and women in their 20s and 30s, though children and older adults also can develop the condition.
  • Where you live. People from countries in the Middle East and Far East, including Turkey, Iran, Japan and China, are more likely to develop Behcet's.
  • Sex. While Behcet's disease occurs in both men and women, the disease is usually more severe in men.
  • Genes. Having certain genes is associated with a higher risk of developing Behcet's.

Complications:

Complications of Behcet's disease depend on your signs and symptoms. For instance, untreated uveitis can lead to decreased vision or even blindness. People with eye signs and symptoms of Behcet's disease need to visit an eye doctor (ophthalmologist) regularly because treatment can help prevent this complication.

Diagnosis

There is no specific pathological testing or technique available for the diagnosis of the disease, although the International Study Group criteria for the disease are highly sensitive and specific, involving clinical criteria and a pathergy test. Behçet's disease has a high degree of resemblance to diseases that cause mucocutaneous lesions such as Herpes simplex labialis, and therefore clinical suspicion should be maintained until all the common causes of oral lesions are ruled out from the differential diagnosis.

Visual acuity, or color vision loss with concurrent mucocutaneous lesions and/or systemic Behçet's symptoms should raise suspicion of optic nerve involvement in Behçet's disease and prompt a work-up for Behçet's disease if not previously diagnosed in addition to an ocular work-up. Diagnosis of Behçet's disease is based on clinical findings including oral and genital ulcers, skin lesions such as erythema nodosum, acne, or folliculitis, ocular inflammatory findings and a pathergy reaction. Inflammatory markers such ESR, and CRP may be elevated. A complete ophthalmic examination may include a slit lamp examination, optical coherence tomography to detect nerve loss, visual field examinations, fundoscopic examination to assess optic disc atrophy and retinal disease, fundoscopic angiography, and visual evoked potentials, which may demonstrate increased latency. Optic nerve enhancement may be identified on Magnetic Resonance Imaging (MRI) in some patients with acute optic neuropathy. However, a normal study does not rule out optic neuropathy. Cerebrospinal fluid (CSF) analysis may demonstrate elevated protein level with or without pleocytosis. Imaging including angiography may be indicated to identify dural venous sinus thrombosis as a cause of intracranial hypertension and optic atrophy.

Diagnostic guidelines

According to the International Study Group guidelines, for a patient to be diagnosed with Behçet's disease, the patient must have oral (aphthous) ulcers (any shape, size, or number at least 3 times in any 12 months period) along with 2 out of the following 4 "hallmark" symptoms:

  • genital ulcers (including anal ulcers and spots in the genital region and swollen testicles or epididymitis in men)
  • skin lesions (papulo-pustules, folliculitis, erythema nodosum, acne in post-adolescents not on corticosteroids)
  • eye inflammation (iritis, uveitis, retinal vasculitis, cells in the vitreous)
  • pathergy reaction (papule >2 mm dia. 24-48 hrs or more after needle-prick). The pathergy test has a specificity of 95% to 100%, but the results are often negative in American and European patients.

Despite the inclusive criteria set forth by the International Study Group, there are cases where not all the criteria can be met and therefore a diagnosis cannot readily be made. There is however a set of clinical findings that a physician can rely upon in making a tentative diagnosis of the disease; essentially Behçet's disease does not always follow the International Study Group guidelines and so a high degree of suspicion for a patient who presents having any number of the following findings is necessary:

  • mouth ulcers
  • arthritis/arthralgia
  • nervous system symptoms
  • stomach and/or bowel inflammation
  • deep vein thrombosis
  • superficial thrombophlebitis
  • epididymitis
  • cardio-vascular problems of an inflammatory origin
  • inflammatory problems in chest and lungs
  • problems with hearing and/or balance
  • extreme exhaustion
  • changes of personality, psychoses
  • any other members of the family with a diagnosis of Behçet disease

Prognosis

Most people with Behçet's disease can lead productive lives and control symptoms with proper medicine, rest, and exercise. Doctors can use many medicines to relieve pain, treat symptoms, and prevent complications. When treatment is effective, flares usually become less frequent. Many patients eventually enter a period of remission (a disappearance of symptoms). In some people, 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 Behçet's disease.

Treatment

Although there is no cure for Behçet's disease, people can usually control symptoms with proper medication, rest, exercise, and a healthy lifestyle. The goal of treatment is to reduce discomfort and prevent serious complications such as disability from arthritis or blindness. The type of medicine and the length of treatment depend on the person's symptoms and their severity. It is likely that a combination of treatments will be needed to relieve specific symptoms. Patients should tell each of their doctors about all of the medicines they are taking so that the doctors can coordinate treatment.

Topical medicine is applied directly on the sores to relieve pain and discomfort. For example, doctors prescribe rinses, gels, or ointments. Creams are used to treat skin and genital sores. The medicine usually contains corticosteroids (which reduce inflammation), other anti-inflammatory drugs, or an anesthetic, which relieves pain.

Doctors also prescribe medicines taken by mouth to reduce inflammation throughout the body, suppress the overactive immune system, and relieve symptoms. Doctors may prescribe one or more of the medicines listed below to treat the various symptoms of Behçet's disease.

Corticosteroids:
Immunosuppressive drugs (Azathioprine, Chlorambucil or Cyclophosphamide, Cyclosporine, Colchicine, or a combination of these treatments)
Methotrexate:

Resources

  • NIH
  • Mayo Clinic
  • Genetics Home Reference