26th February 2025

Behçet’s syndrome

This is a rare autoinflammatory disorder characterised by oral and genital ulcers and increased thrombotic risk. It is more common in males of Middle Eastern origin and is associated with HLA B51. The diagnosis is clinical as there is no clear diagnostic test, although a positive pathergy test is suggestive (insertion of a needle causes formation of a papule or pustule at the insertion site).

Clinical features include:

• Oral ulcers are often the first sign of disease. These are generally painful and may prevent eating.
• Genital ulcers are the most specific feature of Behçet’s, particularly if they heal with scarring, as few other conditions do this. They are most commonly found on the scrotum in men and vulva in women.
• There can be a wide range of thrombotic manifestations, from DVT to cerebral venous sinus thrombosis. Pulmonary artery aneurysms are relatively common and are rarely seen in other conditions.
• Up to 75% of patients have skin involvement, which varies from an acneiform rash to erythema nodosum.
• Uveitis is relatively common and can be the presenting feature.
• Gastrointestinal involvement mimicking IBD can be seen due to bowel ulceration.

Management depends on the specific organ involved. Oral and genital ulcers can be treated with topical steroids or oral colchicine. If this is not sufficient, DMARDs such as azathioprine and anti-TNF alpha agents such as infliximab can be used.