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Behçet's syndrome

NORD is very grateful to Kenneth T. Calamia, MD, Chairman, Division of Rheumatology, Department of Internal Medicine, Mayo Clinic, Jacksonville, Florida, for assistance in the preparation of this report.

Synonyms of Behçet's syndrome

  • Adamantiades-Behcet's syndrome
  • BD
  • Behcet's disease

Disorder Subdivisions

  • Neuro-Behcet
  • Ocular-Behcet
  • Vasculo-Behcet

General Discussion

Behçet's syndrome is a rare multisystem inflammatory disorder characterized by ulcers affecting the mouth and genitals, various skin lesions, and abnormalities affecting the eyes. Symptoms include mucous membrane lesions of the mouth (canker sores) and genitals (ulcers) that tend to disappear and recur spontaneously. Inflammation of the eyes (anterior uveitis, posterior uveitis, or panuveitis) also affects individuals with Behçet's syndrome. Additional systems of the body may also be affected including the joints, blood vessels, central nervous system, and/or digestive tract. The exact cause of Behçet's syndrome is unknown.

Symptoms

The earliest symptom of Behçet's syndrome is usually painful canker sores on the mucous membranes that line the mouth (aphthous stomatitis). The sores are usually round or oval with reddish (erythematous) borders that may occur anywhere within the mouth. They may be shallow or deep and may appear as a single lesion or a cluster of multiple lesions. The sores typically heal within a few days, up to a week or more, without scarring, but frequently recur. They may precede other symptoms of Behçet's syndrome by a number of years. Sometimes similar sores may appear on the genitals, specifically the scrotum and shaft of the penis in males and the vulva in females. The sores are also round and painful, but may be larger and deeper than those affecting the mouth. These sores also recur, but, unlike oral sores, may tend to scar.

Behçet's syndrome may also affect the eyes. Symptoms may include inflammation of the back of the eye (posterior uveitis) and inflammation of the anterior chamber (anterior uveitis or iridocyclitis). Inflammation of the iris accompanied by pain, tearing (lacrimation), and the accumulation of pus (hypopyon iritis) may also occur. The retina may become inflamed resulting in blurred vision, abnormal sensitivity to light (photophobia), and/or, inflammation of the thin membranous layer of blood vessels behind the retina (chorioretinitis). Although the lesions that cause inflammation in various parts of the eyes may resolve, repeated recurrences may result in the partial loss of vision (decreased visual acuity) or complete blindness if the disease is uncontrolled. In some cases, eye abnormalities may be the first symptom of Behçet's syndrome. In other cases, they may not develop until several years later.

Individuals with Behçet's syndrome may also exhibit the formation of small, pus-filled growths on the skin (pustules). Some affected individuals, especially females, may develop lesions that resemble those of erythema nodosum, a skin disorder characterized by the formation of tender, reddish, inflammatory nodules on the front of the legs. These nodules disappear on their own (spontaneously) sometimes leaving faint scars or discoloration (pigmentation). Some individuals with Behçet's syndrome may develop small eruptions that resemble acne (acneiform eruptions) and/or inflammation that mistakingly appears to affect the hair follicles on the skin (pseudofolliculitis).

In approximately 50 percent of cases of Behçet's syndrome, affected individuals experience pain (arthralgia) and swelling in various joints of the body (polyarthritis). This may occur before, during, or after the onset of the other symptoms associated with Behçet's syndrome. Pain, which can range from mild to severe, typically affects the joints of the knees, wrists, elbows and ankles, and may become chronic. Lasting damage to affected joints is extremely rare.

Individuals with Behçet's syndrome may also have recurring ulcers in the digestive tract. Symptoms vary from mild abdominal discomfort to severe inflammation of the large intestine and rectum accompanied by diarrhea or bleeding.

Approximately 10%-20% of individuals with Behçet's syndrome also have involvement of the central nervous system. These symptoms usually appear months or years after the initial symptoms of Behçet's syndrome. Recurring attacks of inflammation of the membranes that surround the brain or spinal cord (meningitis or meningoencephalitis) can result in neurological damage. Symptoms may include headache, the inability to coordinate voluntary movement (cerebellar ataxia), impaired muscle movements of the face and throat (pseudobulbar palsies), stroke, and/or rarely, seizures.

Behçet's syndrome causes inflammation of the blood vessels (vasculitis). Involvement of small vessels is thought to underly many of the problems that the disorder causes. In some instances inflammation of the large veins, particularly those in the legs may occur along with the formation of blood clots (thrombophlebitis). The walls of an involved artery may bulge forming a sac and (aneurysm). In very rare cases, blood clots from the veins travel to the lungs (pulmonary emboli) resulting in episodes of chest pain, coughing, difficult or labored breathing (dypsnea), and coughing up blood (hemoptysis).

Unlike most diseases which are classified as a vasculitis, involvement of the kidneys or peripheral nerves is very rare.

Behçet's disease is most important to identify when there is ocular, central nervous system or large blood vessel involvement. Involvement of these areas are usually the most serious.

Causes

The exact cause of Behçet's syndrome is not known. Studies suggest that some people may have a genetic predisposition to the condition. A genetic predisposition means that a person may carry a gene for a disease but it may not be expressed unless something in the environment triggers the disease. Researchers have demonstrated that certain individuals with Behçet's syndrome, especially those of Middle Eastern and Asian descent, have an increased frequency of certain "human leukocyte antigens" (HLAs) in the blood. Individuals with Behçet's syndrome are more likely to have HLA-B51 than the general population. The possible role of HLA-B51 in predisposing individuals to Behçet's syndrome and its overall association with the disorder is unknown.

Other research suggests that Behçet's syndrome may be an autoimmune disease. Autoimmune disorders are caused when the body's natural defenses against "foreign" or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons. Viral or bacterial infections have also been suggested as a possible cause for the disorder. Still another theory is that the diseases is an auto-inflammatory disorder in which the body's ability to cause inflammation becomes uncontrolled.

Affected Populations

Behçet's syndrome is a rare disorder in the United States and Western Europe. It occurs most frequently in the Middle East and Asia, along ancient trading routes between the Mediterranean basin and eastern Asia, known as the Silk Road. Turkey has the highest prevalence rate (80-370 cases per 100,000); Japan, Korea, China, Iran, and Saudi Arabi also have high prevalence rates. The disorder is the leading cause of blindness in Japan. The age of onset is typically between 30 and 40 years.

In the United States and Australia this syndrome is more common in women than men, and the symptoms tend to be less severe. Men may be more commonly affected in Middle Eastern countries and usually have more severe disease. Central nervous system involvement is more common among native populations of northern Europe and the United States.

Related Disorders

Symptoms of the following disorders can be similar to those of Behçet's syndrome. Comparisons may be useful for a differential diagnosis:

Reactive arthritis, previously known as Reiter's syndrome, is a rare infectious disorder characterized by arthritis, inflammation of the urinary tract (non-gonococcal urethritis), and inflammation of the membranes that line the eyes (conjunctivitis). Lesions may also appear on the skin and mucous membranes. The symptoms may not all appear at once. There may by spontaneous remissions and recurrences. Symptoms may include pus in the urine, swollen painful joints, and ulcers in the mouth. Occasionally the iris of the eyes may become inflamed (iritis). This disorder can be transmitted through sexual contact. (For more information on this disorder, choose "arthritis, reactive" as your search term in the Rare Disease Database.)

Stevens-Johnson syndrome is a rare skin disorder characterized by large bullous lesions on the skin and mucous membranes of the mouth, throat, nose, eyes, and genitals. The lesions are typically painful. Inflammation of the membranes that line the eyes (conjunctivitis) may also occur and be accompanied by a discharge. This can lead to scarring of the cornea and loss of vision. Some people may experience fever and fatigue. (For more information on this disorder, choose "Stevens-Johnson" as your search term in the Rare Disease Database.)

Sweet Syndrome is a rare skin disorder characterized by painful red eruptions usually on the arms, face, neck, and legs. Major symptoms of Sweet syndrome are tender or painful skin eruptions and general feeling of discomfort (malaise). Skin lesions usually occur on the arms, but also on the face, neck, legs, and occasionally the thighs and trunk. The lesions may be up to an inch in diameter. They are usually bluish-red, irregular, flat or raised, sharply outlined, circular, and/or hardened, with a rounded edge. Scarring is usually absent. Remission may occur after a few weeks, but recurrences are possible. On rare occasions, the female genital tract (vagina and uterus) may be involved. The exact cause of this disorder is not known. (For more information on this disorder, choose "Sweet" as your search term in the Rare Disease Database.)

Standard Therapies

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, 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.

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 patients age and sex may all affect treatment decisions.

Spontaneous remission over time is common for individuals with Behçet's syndrome. Corticosteroid-containing preparations may be applied to the affected areas may relieve the pain of ulcers. Mouthwashes that contain a local anesthetic, such as xylocaine, lidocaine, or Benadryl may temporarily relieve pain. Eye drops that contain corticosteroids may help relieve pain affecting the eyes. Continuing therapy with the drug colchicine may be effective in preventing recurring attacks of oral and genital ulcers or arthritis.

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 by themselves. Immunosuppressive agents such as azathioprine, methotrexate, cyclosporine, or chlorambucil may be employed to control difficult inflammation and reduce damage. 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.

Arthritis associated with Behçet's syndrome may also be treated with cholchicine and nonsteroidal anti-inflammatory drugs (NSAIDs). Sulfasalazine and corticosteroids may be administered to treat inflammatory bowel disease and gastrointestinal lesions associated with Behçet's syndrome. Central nervous systems and vascular abnormalities may be treated with corticosteroids as well, often in conjunction with immunosuppressive agents. Anticoagulants should be considered in patients with clotting of major blood vessels.

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), and cyclosporine (Sandimmune) 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. Azathioprine (Imuran) has been used to control the progression of eye disease in people with Behçet's syndrome.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Organizations related to Behçet's syndrome

NORD offers an online community for this rare disease. RareConnect was created by EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. You can view these international, rare disease communities at www.rareconnect.org.

References

REVIEW ARTICLES
Calamia KT, Schirmer M, Melikoglu M. Major vessel involvement in Behçet disease: an Update. Curr Opin Rheumatol. 2011;23:24-31.

Hatemi, G, Silman, A, Bang, D et al. EULAR recommendations for the management of Behçet's disease. Ann Rheum Dis 2008;67:1656-1662 doi:10.1136/ard.2007.080432 http://ard.bmj.com/content/67/12/1656.full.html

Uzun S, Alpsoy E, Durdu M, et al. The clinical course of Behçet's disease in pregnancy: a retrospective analysis and review of the literature. J Dermatol. 2003;30:499-502.

Yazici H. Behçet's syndrome: an update. Curr Rheumatol Rep. 2003;5:195-99.

Hirohata S, Kikuchi H. Behçet's disease. Arthritis Res Ther. 2003;5:139-46.

Nussenblatt RB. Bench to bedside: new approaches to the immunotherapy of uveitic disease. Int Rev Immunol. 2002;21:273-89.

Andrews J, Haskard DO. Current management options in Behçet's disease. Minerva Med. 2002;93:335-45.

Goker B, Goker H. Current therapy for Behçet's disease. Am J Ther. 2002;9:465-70.

Shek LP, Lim DL. Thalidomide in Behçet's disease. Biomed Pharmacother. 2002;56:31-35.

Bang D. Clinical spectrum of Behçet's disease. J Dermatol. 2001;28:610-13.
Sakane T, et al. Behçet's disease. N Engl J Med. 1999;341:1284-91.

JOURNAL ARTICLES
Tugal-Tutkin I, Urgancioglu M. Childhood-onset uveitis in Behçet disease: a descriptive study of 36 cases. Am J Ophthalmol. 2003;136:1114-19

INTERNET
NINDS Behçet's Disease Information Page. http://www.ninds.nih.gov/disorders/behcet/behcet.htm. Last updated February 6, 2012. Accessed February 21, 2012.

Posadas AC. Behçet Disease. Emedicine.
http://emedicine.medscape.com/article/329099-overview. Updated: August 26, 2011. Accessed February 21, 2012.

Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Behçet Syndrome. Entry No: 109650. Last Edited September 12, 2011. Available at: http://www.ncbi.nlm.nih.gov/omim/. Accessed February 21, 2012.

NIAMS National Institute of Arthritis and Musculoskeletal and Skin Diseases. Behçet's Disease. http://www.niams.nih.gov/Health_Info/Behçet_Disease/default.asp. Published April 2009. Accessed February 21, 2012.

American Behçet's Disease Association. ABDA.
Most Common Symptoms and Signs of Behçet's Disease.
http://www.behcets.com/site/pp.asp?c=bhJIJSOCJrH&b=260548. Accessed February 21, 2012.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2012/03/16 00:00:00 GMT+0

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