Behcet syndrome is a rare, chronic inflammatory disorder defined by vasculitis, the inflammation of blood vessels throughout the body. The severity and specific symptoms vary significantly between individuals. Its nature is relapsing and remitting, meaning symptoms appear during periods known as flares and then subside during periods of remission.
Hallmark Symptoms and Affected Areas
The initial and most common sign of Behcet syndrome is the emergence of painful mouth sores. These sores resemble common canker sores but are often more numerous and frequent. They appear as round or oval lesions with reddish borders inside the mouth, and while these ulcers heal, they have a strong tendency to recur.
Another feature of the syndrome is the appearance of genital sores. These lesions are structurally similar to the oral ulcers but form on the scrotum in males or the vulva in females. Genital sores are painful and can be deeper, often resulting in scarring after they heal.
Eye inflammation, or uveitis, is a serious manifestation of Behcet syndrome, causing pain, redness, light sensitivity, and blurred vision. This inflammation can affect different parts of the eye and may involve both eyes. If left untreated, severe and persistent uveitis can lead to significant vision loss or blindness.
Beyond this triad of symptoms, Behcet syndrome can affect other areas of the body. Skin problems are common and can present as acne-like spots or as tender, red nodules called erythema nodosum. Many individuals also experience joint pain and swelling in joints like the knees, ankles, and wrists. In some cases, inflammation extends to larger blood vessels, leading to complications such as blood clots or aneurysms.
Potential Causes and Triggers
The precise cause of Behcet syndrome is unknown, but it is considered an autoimmune condition. In this type of disorder, the body’s immune system mistakenly targets its own healthy tissues. In Behcet syndrome, the immune system attacks the blood vessels, causing the widespread inflammation characteristic of the disease.
Genetic factors play a significant role in susceptibility to the syndrome, with research identifying a strong association with the HLA-B51 gene. People who carry this gene have a higher risk of developing the disorder. However, possessing the gene does not mean an individual will develop Behcet syndrome, as many people with the gene never show signs of the disease.
It is theorized that for genetically predisposed individuals, an environmental factor may be necessary to activate the disease. Scientists believe that exposure to certain viruses or bacteria could act as a trigger. This exposure might initiate the misguided immune response in those with a genetic susceptibility.
Diagnostic Criteria and Procedures
There is no single, definitive test to confirm a diagnosis of Behcet syndrome. The diagnostic process relies on a physician recognizing a specific pattern of clinical signs and symptoms. A thorough evaluation is also necessary to rule out other conditions with similar symptoms.
To standardize the diagnostic process, experts use criteria from the International Study Group for Behcet’s Disease. A diagnosis requires the presence of recurrent oral ulcers at least three times in one year. In addition, the patient must exhibit at least two of the following four signs:
- Recurrent genital ulcers
- Eye inflammation (uveitis)
- Specific skin lesions
- A positive pathergy test
The pathergy test is a procedure used to help support a diagnosis. It involves pricking the skin with a small, sterile needle. In individuals with Behcet syndrome, this minor injury often results in an exaggerated immune response, causing a small red bump or a pustule to form at the site within 24 to 48 hours.
Management and Therapeutic Approaches
Treatment for Behcet syndrome focuses on controlling symptoms during flares, reducing inflammation, and preventing long-term complications. For oral and genital sores, physicians often prescribe topical corticosteroids. These medications, such as gels, pastes, or mouthwashes, are applied directly to the sores to reduce pain and inflammation.
When symptoms are more widespread or severe, systemic medications may be required. Oral corticosteroids, such as prednisone, are used to control inflammation throughout the body. These drugs are effective at managing flare-ups but are tapered to the lowest effective dose for the shortest time to minimize side effects.
For patients with more severe disease involving the eyes, nervous system, or major blood vessels, immunosuppressive drugs are necessary. Medications like azathioprine or cyclosporine work by dampening the overactive immune system. This prevents it from attacking the body’s own tissues.
In recent years, biologic therapies have emerged as an option for managing severe or resistant cases. These newer drugs, such as TNF inhibitors, target specific molecules involved in the inflammatory process. By blocking these specific pathways, they can effectively reduce inflammation and are used when other treatments have failed.