Behçet's disease

Disease Description (Causes and Symptoms)

• Definition and pathophysiology: A chronic relapsing disease in which inflammation (vasculitis) occurs in large and small blood vessels throughout the body; immune-mediated inflammatory responses are the key mechanism. It is presumed to develop through interactions between genetic predisposition (associated with HLA‑B51) and environmental/unknown infectious factors.
• Main symptoms (recurrent and relapsing characteristics)
  • Oral ulcers (recur in nearly all patients) — severe pain; usually less than 1 cm, recurring several times a year
  • Genital ulcers — painful ulcers on the penis, vulva, etc.
  • Ocular symptoms (including uveitis) — pain, redness, photophobia, decreased vision; posterior uveitis carries a high risk of visual impairment
  • Skin lesions — acne-like rashes, erythema nodosum, folliculitis, etc.
  • Joint symptoms — transient joint pain and swelling, mainly in the knees and ankles (joint deformity is uncommon)
  • Vascular complications — venous and arterial thrombosis, aneurysms
  • Neurological complications — possible aseptic meningitis, brain parenchymal lesions, and thrombotic stroke
  • Gastrointestinal lesions — abdominal pain and diarrhea due to colonic or gastric ulcers; perforation is rare
• Diagnosis: Diagnosis is based on typical clinical findings. Blood tests (inflammatory markers), skin biopsy, medical history and clinical findings, and pathergy testing play supportive roles. There is no single specific confirmatory test.

Treatment Methods

• Treatment principles: Tailored long-term management according to the affected areas and severity, with the goals of suppressing relapses, preventing complications, and preserving function.
• Topical treatment
  • Oral and genital ulcers: Topical steroid ointments/gels, oral antimicrobial/soothing agents, and topical healing agents
  • Skin lesions: Topical steroids
• Systemic drug treatment (for moderate or more severe disease or involvement of important organs)
  • Corticosteroids (short-term use for acute exacerbations and severe organ involvement)
  • Colchicine: Effective for mucosal and skin lesions and joint symptoms
  • Immunosuppressants: Azathioprine — used for ocular and severe systemic symptoms
  • Cyclosporine A: Effective for severe eye disease, but use with caution in cases of neurological involvement
  • Alternative or potent immunosuppressants: Cyclophosphamide and methotrexate (caution regarding fertility and pregnancy) — used for certain severe complications
  • Biologics: TNF inhibitors (infliximab, adalimumab) — used to treat refractory ocular, vascular, or neurological lesions that threaten vision
  • Interferon alfa: Benefits have been reported in some patients
• Thrombosis management: Because the mechanism of thrombosis (inflammatory vascular lesions) is important, immunosuppressive treatment is generally prioritized. Anticoagulant therapy is determined on an individual basis (including the extent of venous occlusion and risk) in consultation with thrombosis specialists, rheumatology, and vascular teams.
• Surgery/procedures: Surgical treatment may be necessary in cases of aneurysm rupture, gastrointestinal perforation, or severe complications.
• Lifestyle management and preventive precautions
  • Regular ophthalmology (eye) follow-up examinations (early treatment is key to preserving vision)
  • Infection prevention (the risk of infection increases during immunosuppressive treatment) — consult the treating physician about the vaccination plan (caution with live vaccines)
  • Pregnancy and reproductive planning counseling (review medication safety: methotrexate and misoprostol, etc. are contraindicated)
  • Long-term medication monitoring (liver and bone marrow function, blood tests, etc.)

Checkpoints Before an Outpatient Visit (Including Preparation Items and Sample Questions)

• Preparation items
  • A list of all currently used medications and supplements (including doses and treatment start dates)
  • A record of the dates and patterns of recent symptoms (oral or genital ulcers, eye symptoms, fever, skin lesions, etc.) (photos can be useful)
  • Previous test results (blood tests, fundus photographs and eye examinations, CT/MRI, pathology tests, etc.) or medical reports
  • Information on previous hospitalizations and surgeries and complications (thrombosis, brain lesions, aneurysms, etc.)
  • Pregnancy plans or the possibility of pregnancy, and whether you are breastfeeding
• Key information to provide to the doctor during the outpatient visit
  • Recent worsening or new symptoms (when they occurred, how often, and what triggering factors may be involved)
  • Adherence to and side effects of regularly used immunosuppressants and steroids
  • History of previous thrombotic, cranial nerve, or ocular complications

Examples of General Questions to Ask the Doctor

• "What are the main side effects and monitoring requirements of this medication (e.g., azathioprine/colchicine/biologics)?"
• "What steps should I take immediately when my symptoms worsen?"
• "I am planning a pregnancy. Which medications should I stop, and which are safe?"
• "Which vaccines should I receive to prevent viral and bacterial infections? Are live vaccines acceptable?"
• "What can be expected regarding the long-term prognosis (vision, neurological function, and quality of life)?"

Examples of Disease-Specific Questions

• "I have repeated eye pain and decreased vision recently. Should I continue my current medication to reduce the risk of visual impairment? What additional tests are needed?"
• "I previously had multiple venous thromboses. To prevent recurrent thrombosis, should I continue anticoagulants, or is immunosuppressive treatment alone sufficient?"