Behçet's Disease

What causes Behçet's disease

The cause is not fully understood. It is thought that an infection or environmental trigger sets off an abnormal immune response in people with a genetic predisposition. The gene variant HLA-B51 is strongly linked, especially in Silk Road populations. Behçet's is not contagious and is not passed directly from parent to child, though family clustering occurs.

Who gets it

• most common in Turkey, Iran, Israel, the Arab world, Central Asia, China, Korea and Japan
• rare in the US and northern Europe
• usually starts between ages 20 and 40
• tends to be more severe in young men, while women more often have milder disease

Symptoms

Behçet's typically follows a pattern of flares and quieter periods.

Mouth ulcers

Painful round ulcers on the lips, gums, tongue, cheeks or throat, similar to common canker sores (aphthous ulcers) but usually more frequent, more numerous and longer-lasting. They heal in 1 to 3 weeks and recur. They are often the first sign.

Genital ulcers

Painful ulcers on the scrotum, vulva or groin that can leave scars. Behçet's genital ulcers are not caused by infection, though herpes and syphilis must be ruled out.

Skin lesions

• acne-like spots on the back, chest, face or legs
• tender red nodules on the shins resembling erythema nodosum
• pathergy: a skin bump or pustule forming 24 to 48 hours after a needle prick

Eye inflammation

Uveitis affects up to half of patients and can involve the front or back of the eye. Symptoms are redness, pain, blurred vision, floaters and light sensitivity. Posterior uveitis and retinal vasculitis can cause permanent vision loss without prompt treatment.

Joints

Pain and swelling in the knees, ankles, wrists or elbows, usually without lasting damage.

Blood vessels

• deep vein thrombosis and superficial thrombophlebitis
• clots in large veins, including the vena cava and brain veins
• aneurysms of arteries, including the pulmonary artery, which can bleed

Gut

Ulcers in the bowel cause abdominal pain, diarrhea and bleeding, resembling Crohn's disease.

Nervous system (neuro-Behçet's)

Inflammation of the brainstem or brain can cause headaches, weakness, balance problems, confusion or meningitis-like symptoms. Venous sinus thrombosis can cause severe headaches and vision problems.

Diagnosis

There is no single diagnostic test. Doctors use the International Criteria for Behçet's Disease (ICBD), which score:

A score of 4 or more supports the diagnosis.

Other tests help rule out conditions that look similar and assess organ involvement:

• blood tests for inflammation (ESR, CRP)
• HLA-B51 testing in some centers
• swabs to exclude herpes and other infections
• eye examination, including retinal imaging
• ultrasound, CT or MRI for blood vessel, brain or gut involvement
• colonoscopy for bowel symptoms

Treatment

Treatment follows EULAR recommendations and depends on which organs are involved.

Mouth and genital ulcers

• topical steroid mouthwashes, pastes or creams
• anesthetic gels for pain
• colchicine to reduce ulcer frequency, especially genital ulcers and erythema nodosum
• apremilast for persistent mouth ulcers

Skin and joints

• colchicine for most
• azathioprine or other immunosuppressants for resistant disease

Eye disease

Uveitis affecting the back of the eye needs prompt azathioprine, cyclosporine, interferon-alpha or anti-TNF biologics (infliximab, adalimumab), often with steroids. Ophthalmologist follow-up is essential.

Vascular, gut and nervous system disease

High-dose steroids with immunosuppressants such as azathioprine, cyclophosphamide or anti-TNF drugs. Blood thinners are used cautiously for clots, because of aneurysm bleeding risk. Surgery may be needed for aneurysms.

Living with Behçet's

• keep regular eye checks even when feeling well
• use a soft toothbrush, avoid spicy or acidic foods during mouth ulcer flares, and treat ulcers early
• stop smoking
• discuss pregnancy plans, since some medicines need to be changed
• ask about support groups, as flares and fatigue can be wearing

Outlook

Behçet's disease is lifelong but often becomes milder with age. Mucocutaneous symptoms are the most common and least dangerous. Eye, blood vessel, gut and nervous system involvement drive the risk of serious complications, and early treatment has greatly improved outcomes, including preserving vision.

Frequently asked questions

What are the first symptoms of Behçet's disease?

Recurrent painful mouth ulcers are usually the first symptom, often appearing years before other features. Genital ulcers, skin spots, joint pain and eye inflammation may follow. A pattern of frequent ulcers with any of these should prompt assessment.

How is Behçet's disease diagnosed?

There is no single test. Doctors diagnose it using clinical criteria based on recurring mouth and genital ulcers, eye inflammation, skin lesions and other organ involvement, after ruling out conditions such as herpes, lupus and Crohn's disease.

Is Behçet's disease contagious?

No. Behçet's is an immune-mediated inflammatory disease, not an infection. It cannot be passed to others through contact, sex or sharing utensils.

What is the treatment for Behçet's disease?

Treatment depends on symptoms. Topical steroids and colchicine treat ulcers and skin lesions. Azathioprine, cyclosporine and biologic drugs such as infliximab treat eye, blood vessel, gut and brain involvement. Treatment aims to control inflammation and prevent damage.

Can Behçet's disease cause blindness?

It can if eye inflammation is severe and untreated, particularly when it affects the retina. Modern immunosuppressive and biologic treatments have greatly reduced vision loss. Regular eye exams and prompt treatment of any eye symptoms are essential.