Behcet's syndrome

Overview

Behçet’s syndrome, also known as Behçet’s disease, is a chronic, relapsing inflammatory disorder that affects multiple systems in the body, particularly the blood vessels. It is characterized by a classic triad of recurrent oral ulcers, genital ulcers, and eye inflammation, although it can involve the skin, joints, gastrointestinal tract, and central nervous system. First described by Turkish dermatologist Hulusi Behçet in 1937, the syndrome is considered a type of vasculitis — inflammation of the blood vessels — and can be debilitating if not properly managed.

Causes

The exact cause of Behçet’s syndrome is unknown, but it is believed to result from an abnormal autoimmune response triggered by genetic and environmental factors.

• Genetic predisposition – the condition is more common in individuals who carry the HLA-B51 gene

• Autoimmune mechanisms – the immune system mistakenly attacks healthy blood vessels

• Environmental triggers – such as infections (bacterial or viral) may initiate disease flares

• Geographic distribution – more prevalent along the "Silk Road," including countries like Turkey, Iran, Japan, and parts of the Mediterranean

Symptoms

Behçet’s syndrome has a wide range of symptoms due to its multi-system involvement. The disease tends to follow a relapsing-remitting course.

• Recurrent oral ulcers – painful mouth sores that resemble canker sores

• Genital ulcers – similar in appearance to oral ulcers, often with scarring

• Eye inflammation – uveitis or retinal vasculitis, which can lead to vision loss

• Skin lesions – including acne-like bumps, erythema nodosum (painful red nodules), or pustules

• Joint pain – affecting knees, ankles, elbows, or wrists

• Gastrointestinal symptoms – such as abdominal pain, diarrhea, and ulcers

• Neurological involvement – headaches, meningoencephalitis, or stroke-like symptoms in severe cases

• Vascular complications – including blood clots, aneurysms, or inflammation of veins (thrombophlebitis)

Diagnosis

There is no single test for Behçet’s syndrome. Diagnosis is clinical and based on symptom patterns and exclusion of other conditions.

• International Criteria for Behçet’s Disease (ICBD) – used for classification and includes a point-based system based on symptoms

• Pathergy test – a skin-prick test that may show an exaggerated inflammatory response in some patients

• Ophthalmologic exam – to assess for uveitis or retinal involvement

• Imaging studies – MRI or CT scans for CNS involvement or vascular imaging for aneurysms and clots

• Blood tests – to rule out infections, lupus, Crohn’s disease, or other autoimmune disorders

Treatment

There is no cure for Behçet’s syndrome. Treatment aims to control inflammation, manage symptoms, and prevent complications.

• Topical corticosteroids – for mild oral or genital ulcers

• Colchicine – effective for mucosal ulcers and joint symptoms

• Systemic corticosteroids – used during acute flares or severe disease

• Immunosuppressive agents – such as azathioprine, methotrexate, or cyclophosphamide for organ-threatening disease

• Biologic therapies – including TNF-alpha inhibitors (e.g., infliximab) for refractory or severe cases

• Ophthalmic care – urgent intervention for eye involvement to prevent vision loss

Prognosis

The course of Behçet’s syndrome varies widely among individuals:

• Mild cases may only involve mucosal and skin symptoms and respond well to treatment

• Severe cases with ocular, neurological, or vascular involvement require aggressive management

• Vision loss is a serious complication in untreated or poorly controlled eye disease

• Early diagnosis and consistent treatment can improve outcomes and quality of life

• Long-term follow-up is essential to monitor for flares and adjust therapy