Behçet's disease

Behçet's disease
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Synonyms	Behçet disease Behçet's syndrome Morbus Behçet Behçet-Adamantiades syndrome Silk Road disease
Pronounce	, tr
Field	Rheumatology
Symptoms	Mouth sores, genital sores, inflammation of the eye, arthritis
Complications	Blindness, joint inflammation, blood clots, aneurysm
Onset	20s to 40s
Duration	Long term
Types
Causes	Unknown
Risks
Diagnosis	Based on symptoms
Differential diagnosis	Reactive arthritis, Stevens–Johnson syndrome, Sweet syndrome
Prevention
Treatment
Medication	Immunosuppressive medication such as corticosteroids
Prognosis	Often improves with time
Frequency	Rare (US, EU), more common (Middle East, Asia)
Deaths

Funduscopic photo left eye centered on the optic disc

A person with hypopyon which can be seen in anterior uveitis in a person with Behçet's disease

HLA-B51

Magnetic resonance venogram demonstrating occlusion of the left sigmoid and transverse sinuses

Chronic inflammatory disorder affecting multiple systems

Behçet's disease, also known as Behçet's syndrome, is a chronic, multisystem inflammatory disorder characterized by recurrent oral and genital ulcers, skin lesions, and systemic vasculitis. It is classified as an autoimmune disorder with an unknown cause, though it is believed to be influenced by genetic and environmental factors.

Behçet’s disease primarily affects individuals along the historic Silk Road regions, including the Middle East, Turkey, Japan, and Mediterranean countries. The condition is considered a vasculitis, as it causes widespread inflammation of blood vessels, affecting both small and large arteries and veins.

Epidemiology

Behçet’s disease is more prevalent in certain geographic regions, particularly in countries along the Silk Road, including:

• Turkey (highest prevalence)
• Iran
• Japan
• China
• Korea
• Mediterranean countries

It primarily affects individuals between the ages of 20 and 40, with males experiencing more severe symptoms than females.

Pathophysiology

The exact cause of Behçet’s disease remains unknown, but it is thought to be a complex interaction between genetics, autoimmunity, and environmental triggers. Factors involved in the disease pathogenesis include:

• Genetics: The HLA-B51 gene is strongly associated with an increased risk of developing Behçet’s disease.
• Autoimmunity: The immune system mistakenly attacks healthy blood vessels, leading to systemic vasculitis.
• Environmental Triggers: Infectious agents such as viral and bacterial infections may contribute to the onset of symptoms.

The primary mechanism involves chronic inflammation and immune dysregulation, resulting in widespread damage to skin, mucous membranes, eyes, joints, gastrointestinal tract, and blood vessels.

Clinical Manifestations

Behçet’s disease presents with a variety of symptoms affecting multiple organ systems. The hallmark features include recurrent oral ulcers, genital ulcers, skin lesions, and ocular involvement.

Major Symptoms

• Oral ulcers: Painful, recurrent aphthous ulcers affecting the lips, tongue, and inner cheeks.
• Genital ulcers: Painful ulcers on the genitals, which may lead to scarring.
• Ocular involvement: Uveitis, which can cause blurred vision, eye pain, redness, and potential blindness.
• Skin lesions: Includes erythema nodosum, pseudofolliculitis, and acneiform eruptions.
• Arthritis: Non-erosive joint pain affecting knees, ankles, wrists, and elbows.
• Neurological involvement: In rare cases, Behçet’s disease can lead to meningoencephalitis, causing headaches, confusion, and stroke-like symptoms.
• Vascular involvement: Can cause thrombophlebitis, deep vein thrombosis, and arterial aneurysms.
• Gastrointestinal involvement: Ulcerations and inflammation, particularly affecting the small intestine and colon.

Diagnosis

The diagnosis of Behçet’s disease is primarily clinical, based on established criteria such as the International Criteria for Behçet’s Disease (ICBD).

Diagnostic Criteria

A diagnosis is made when a patient presents with recurrent oral ulcers at least three times in one year, along with at least two of the following:

• Genital ulcers
• Ocular involvement (uveitis, retinal vasculitis)
• Skin lesions (erythema nodosum, pseudofolliculitis)
• Positive pathergy test (a hypersensitivity skin reaction after a needle prick)
• Vascular or neurological involvement

Laboratory Tests

While no specific test confirms Behçet’s disease, the following tests help support the diagnosis:

• HLA-B51 genetic marker (found in many patients but not exclusive to the disease)
• ESR and CRP levels (elevated inflammatory markers)
• Autoimmune panel (to rule out other autoimmune disorders)

Treatment

There is no cure for Behçet’s disease, but treatment focuses on controlling symptoms, reducing inflammation, and preventing complications.

Medications

Treatment is tailored based on symptom severity and organ involvement:

• Mild cases (limited to skin and mucosa):
• Colchicine – Helps reduce frequency of ulcers and skin lesions.
• Topical corticosteroids – Used for oral and genital ulcers.

• Moderate to severe cases (ocular, neurological, or vascular involvement):
• Corticosteroids – Prednisone is used to control acute flares.
• Immunosuppressants – Including azathioprine, methotrexate, and mycophenolate mofetil.
• Biologic agents – TNF-alpha inhibitors like infliximab and adalimumab are used in severe cases.

• Thrombosis prevention:
• Anticoagulants may be required in patients with deep vein thrombosis (DVT).

Supportive Therapy

• Pain management – NSAIDs (e.g., ibuprofen) to relieve joint pain.
• Eye care – Regular ophthalmologic evaluations to prevent blindness.
• Lifestyle modifications – Avoiding triggers, including infections and stress.

Prognosis

Behçet’s disease has a variable prognosis, with some patients experiencing mild symptoms while others develop severe, life-threatening complications. Early diagnosis and aggressive treatment can significantly improve quality of life.

• Mild Cases: Generally manageable with anti-inflammatory treatments.
• Severe Cases: Risk of vision loss, neurological impairment, and vascular complications.
• Mortality Risk: Most deaths occur due to vascular involvement, aneurysms, or central nervous system complications.

Complications

Without proper management, Behçet’s disease can lead to severe complications:

• Blindness due to untreated uveitis.
• Aneurysms and thrombosis leading to stroke or pulmonary embolism.
• Neurological damage, including cognitive impairment.

Prevention and Management

Since Behçet’s disease has no cure, management strategies focus on preventing flares and minimizing damage.

• Regular follow-ups with rheumatologists, ophthalmologists, and vascular specialists.
• Avoiding smoking, stress, and infections to reduce flare-ups.
• Using protective measures for oral ulcers, such as mouthwashes and corticosteroid gels.

See Also

• Vasculitis
• Autoimmune disease
• Uveitis
• Rheumatology

External links

Classification	ICD-10: M35.2 OMIM: 109650 MeSH: D001528 DiseasesDB: 1285
External resources	eMedicine: med/218

• Behçet's disease at Curlie

• Questions and answers about Behçet's disease - US National Institute of Arthritis and Musculoskeletal and Skin Diseases