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Behcet's Disease
Thursday, 21 July 2005
Thursday, 21 July 2005
Silk Road Disease

What

Behcet’s Disease is a chronic, relapsing inflammatory disease of the blood vessels that can affect several systems including the neurological and vascular systems as well as the mouth, eyes, skin, joints and genitals. Behcet’s Disease is considered an autoimmune disease and as such the exact underlying cause is unknown.

Who

This disease is most common among people of Middle Eastern or Far Eastern descent but is still considered to be a rare disease in these populations. Behcet’s disease occurs in 3 in 100,000 or even 100 in 100,000 people of Chinese and Turkish descent, respectively. Men and women have different propensities for developing this disease but this varies with ethnicity. For example, Behcet’s is more common among Middle Eastern men as well as Japanese and Korean women. Behcet’s Disease typically affects young adults, between the ages of 20-40. Most cases occur sporadically, without family history of the disease, but families with several affected members have also been observed.

Signs and Symptoms

The most common clinical feature of this disease is the presence of multiple, recurring ulcers (aphthae) in the mouth. These ulcers can be very small or as large as 2 cm in diameter. The individual ulcers usually disappear within a couple of weeks but some patients have oral ulcers continuously. Genital ulcers appear in 75 percent of individuals with Behcet’s, usually on the scrotum in males and the vulva in females. Fortunately, these genital lesions have a lower risk of recurrence than the oral ulcers but they are more likely to form scars. The genital lesions can also occur internally and cause painful inflammation of the epididymis in males or the fallopian tubes in females. Ulceration of the skin can also occur and does so in about 75 percent of affected individuals. These ulcers can resemble acne, small bruises, nodules or even appear like a rash. The eyes are affected between 25 to 75 percent of the time, depending on the patient’s ethnicity. Typically, North Americans are not as likely to have eye involvement. The symptom of Behcet’s that may be experienced in the eye is a condition called uveitis or inflammation of the iris (colored part of the eye), ciliary body (tissue that holds and adjusts the lens) and choroids (layer of the eye with many blood vessels). If present, the patient will usually have the condition in both eyes and it is usually recurrent like the rest of the symptoms mentioned thus far. Unfortunately, many cases of uveitis progress to blindness despite treatment. Other changes that can occur in the eye include the development of cataracts (lens becomes cloudy), glaucoma (increased pressure in the eye that can easily damage the delicate structures) and more rarely, ulcers of the eye surface. Less than 20 percent of patients develop neurological disease which may include meningitis, encephalitis, or local paralysis and/or uncoordinated movements. All of these are caused by inflammation in certain areas of the brain and can be life-threatening. The large arteries and veins are affected in about one third of patients and can lead to very serious complications such as heart attacks, blood clots and aneurysms (ballooning of a vessel which is then prone to rupture). Arthritis (joint inflammation) occurs in about half of the patients with this disease and develops after an illness. The most commonly affected joints are the knees, wrists and ankles. Other less frequent but possible symptoms of this disease include problems in the kidneys, heart, lungs and ulceration of the GI tract.

Possible Causes

It is believed that the clinical manifestations of Behcet’s Disease are the result of over activity of the immune system triggered by some agent, possibly infectious such as bacteria or viruses. The immune system has difficulty distinguishing innate body components from invading substances, leading to inflammation of specific organs. Specialists believe that patients must have a genetic predisposition for developing the heightened immunity but the specific location of the genetic defect has not been located. Some mechanisms that researchers have identified include alterations in the bone marrow cells that produce many of the cells of the immune system, overproduction of chemicals that encourage inflammation, and the immune system accidentally killing normal cells because it has mistaken them for similar-looking pathogens. Because the immune system attacks one’s own body in this disorder, Behcet’s disease is classified as an “autoimmune” disease.

Diagnosis

There is no test available that can diagnose this condition and as a result, the diagnosis is made clinically. The most recent diagnostic criteria were established in 1990 and include oral ulcerations with a negative herpes test that occur at least three times in a given year as well as two of the following in the absence of other systemic diseases: 1) recurrent genital ulcers 2) eye involvement as described above 3) skin findings consistent with Behcet’s Disease 4) a positive pathergy test (a welt 2mm or more in size that develops 24-48 hours after the oblique insertion of a needle into the skin). This test is similar to an allergy skin test, except that there is no substance in the needle and a positive response means that the patient’s immune system is generally overactive.

Treatment

A number of medications have been used to treat Behcet’s Disease, with the aim of quieting down the body’s overactive immune system. In general, the ulcers of the mouth and genitals as well as the skin lesions are treated with topical anesthetics and steroids. Over the counter anti-inflammatory medications are most commonly used to treat the associated arthritis but their effectiveness is highly disputed. Eye involvement, if present, is usually treated with drugs that dilate the eye, topical glucocorticoids or immunosuppressive drugs. If several organ system s are involved, the treatment usually consists of steroids in combination with an immunosuppressive medication. For example, some of the treatments are chemotherapy drugs like azanthioprine or cyclosporine that are used to suppress the overactive immune system but at doses much lower than that used to treat cancer. Many of the drugs carry potentially serious side effects to the patient, such as increased risk of developing infection, so the patient needs to have frequent blood tests and close monitoring while on these medications.

Prognosis

Behcet’s Disease has an episodic course of exacerbations and remissions and may become less severe after about 20 years of symptoms. Patients with this disease can lead productive lives if they use medications that their body responds to and if they rest adequately when they are experiencing an episode of the disease. Each flare up of the disease is unpredictable with respect to the types and severity of the symptoms. The disease appears to be most severe in young Middle Eastern or Far Eastern males. The greatest amount of complications and deaths are associated with involvement of the brain, eyes, arteries and veins. The oral and genital ulcers as well as the eye involvement and arthritis tend to be most severe during the early years of the disease. Central nervous system disease and disease of the large vessels, if they develop, typically do so later in the disease course. Disease of the eyes and brain is often not fully reversible but may improve with aggressive immunosuppressive therapy.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

The American Behcet Association
Wonderful source of information with up-to-date research articles, contacts of physicians with experience treating the disease and detailed information about treatment regimens.

Behcet’s Disease: Books and Resources
Website developed by a woman with Behcet’s has information about the disease, her books on the disease and several links to other sources.

Yahoo Health
support group for patients with Behcet’s. Behcet’s support http://behcetssupport.brinkster.net/ Another online support group.

Google Search for Behcet's Disease

References and Sources

Up to Date Online www.utdol.com Behcet’s Disease: Books and Resources www.behcetsdisease.com/index.htm