SNP Shot: Genomic Insights

Behçet's disease is an inflammatory disorder that impacts multiple areas of the body. The health issues linked to it arise from widespread blood vessel inflammation, known as vasculitis. This inflammation commonly targets small blood vessels in the mouth, genitals, skin, and eyes.

Typically, the initial symptom of Behçet's disease is painful mouth sores called aphthous ulcers. These ulcers can appear on the lips, tongue, inside the cheeks, the roof of the mouth, throat, and tonsils. Resembling typical canker sores, they usually heal within one to two weeks. Approximately 75% of individuals with Behçet's disease develop similar ulcers on their genitals, most commonly on the scrotum in men and the labia in women.

Behçet's disease can also trigger painful skin bumps and sores. Many affected individuals experience pus-filled bumps resembling acne, which can occur anywhere on the body. Some may also develop red, tender nodules called erythema nodosum, typically on the legs, but also potentially on the arms, face, and neck.

Uveitis, an eye inflammation, is present in over half of those with Behçet's disease. Eye problems are more prevalent among younger individuals with the condition, affecting men more often than women. Uveitis can lead to blurred vision and extreme light sensitivity (photophobia). In rare cases, inflammation may also cause eye pain and redness. Untreated eye issues from Behçet's disease can result in blindness.

Joint involvement is also a common feature of Behçet's disease. It often affects one joint at a time, causing swelling and pain that eventually subside.

Less frequently, Behçet's disease can affect the brain and spinal cord (central nervous system), gastrointestinal tract, large blood vessels, heart, lungs, and kidneys. Central nervous system involvement can cause headaches, confusion, personality changes, memory loss, speech impairment, and balance and movement problems. Gastrointestinal involvement can lead to intestinal perforation (a hole in the intestinal wall), potentially causing severe and life-threatening infection.

The symptoms of Behçet's disease generally begin in a person's twenties or thirties, but can occur at any age. Some individuals experience only mild symptoms, limited to sores in the mouth and on the genitals. Others experience more severe symptoms affecting various parts of the body, including the eyes and vital organs. The characteristics of Behçet's disease typically appear and disappear over months or years. The health problems associated with the disorder tend to improve with age in most affected individuals.

Inheritance:

Most Behçet's disease cases are sporadic, meaning they occur in individuals with no family history of the condition. Although a small percentage of cases have been reported to run in families, there isn't a clear inheritance pattern.