Brugada syndrome

Disease Description (Causes and Symptoms)

• Definition: Behçet's disease is a chronic, recurrent vasculitis in which inflammation occurs in blood vessels throughout the body (arteries and veins, large and small vessels). It is presumed that an excessive immune response occurs through the interaction of genetic predispositions such as HLA-B51 and environmental (infectious) triggers.
• Brief pathophysiology: Hyperactivation of neutrophils and lymphocytes causes inflammation in the blood vessel walls, leading to ulcers, thrombosis, uveitis, and neurological and gastrointestinal complications. No single test can confirm the diagnosis; it is diagnosed based on clinical manifestations.
• Main symptoms
  • Recurrent oral ulcers (occurring in almost all patients)
  • Genital ulcers (men: penis/scrotum; women: vulva)
  • Skin lesions (acne-like lesions, erythema nodosum, vasculitic papules, etc.)
  • Ocular symptoms (anterior/posterior uveitis → pain, decreased vision; posterior uveitis carries a risk of permanent vision loss)
  • Joint symptoms (transient arthritis, mainly in the knees and ankles)
  • Vascular symptoms (venous thrombosis is common; vena cava obstruction or aneurysms may occur)
  • Nervous system (aseptic meningitis, brain parenchymal lesions, risk of stroke)
  • Gastrointestinal tract (large- and small-intestinal ulcers, abdominal pain, bleeding, and possible perforation)
• Epidemiology: Prevalence is high in the Mediterranean region, the Middle East, and East Asia (including Türkiye, Japan, and Korea). It mainly develops in young adults and tends to be more severe in men, particularly with systemic vascular and neurological complications.

Treatment Methods

• Treatment goals: Control symptoms, prevent long-term disability (blindness, vascular complications, and CNS damage) by suppressing inflammation, and improve quality of life.
• Topical treatment
  • Oral and genital ulcers: Topical corticosteroid ointments, antibiotic mouthwash, analgesics, moisturizers, etc.
• Oral and systemic medications
  • Anti-inflammatory and immunosuppressive agents
    • Colchicine: Frequently used for mucosal, skin, and joint symptoms
    • Oral/intravenous corticosteroids (for controlling acute symptoms)
    • Immunosuppressants: Azathioprine (prevention of ocular and systemic lesions), cyclosporine (effective for eye disease but requires caution in neurological lesions), cyclophosphamide (for severe vascular and neurological complications)
    • Methotrexate, tacrolimus, etc., may be used depending on the situation
  • Biologic agents
    • Anti-TNF agents (infliximab, adalimumab): Effective for refractory ocular, vascular, gastrointestinal, and neurological disease and have recently become standard treatments
    • Interferon-α: Used in some patients
  • Anticoagulation: Although venous thrombosis is common, thrombosis in Behçet's disease results from inflammatory vascular lesions, so the effectiveness of anticoagulation alone is controversial. Anticoagulation is determined based on an individual assessment, including accompanying risk factors, the extent of venous obstruction, and whether concomitant anti-inflammatory treatment is being given.
• Procedures and surgery
  • Aneurysms (risk of rupture) or large-vessel lesions: Vascular surgery or interventional treatment (stents, coiling, etc.) may be necessary
  • Gastrointestinal perforation or bleeding: Surgical treatment
  • Severe ocular lesions: High-dose steroids, immunosuppressants, and sometimes local (injection) treatment or surgical intervention
• Lifestyle management and precautions
  • Regular ophthalmologic examinations (regular checkups are essential because of the risk of uveitis)
  • Oral hygiene (may help reduce the frequency of ulcers), minimizing skin trauma (even minor trauma can trigger lesions)
  • Do not smoke (smoking may worsen vascular lesions)
  • Vaccinations, especially live vaccines, require caution or may be contraindicated during immunosuppressive treatment; infection prevention is necessary
  • If planning a pregnancy, consultation is necessary regarding medications such as cyclophosphamide and methotrexate

Checklist Before an Outpatient Visit (Including Items to Bring and Sample Questions)

• Items to bring to the appointment
  • List of currently used medications (including dosage and duration of use) and prescriptions
  • Previous test results (ophthalmology reports, blood tests, imaging such as abdominal CT/MRI and vascular imaging, biopsy results, etc.)
  • Symptom diary (frequency/duration of oral and genital ulcers, timing and characteristics of eye symptoms, fever, joint pain, changes in bowel movements, etc.)
  • History of previous hospitalizations and surgeries (related to thrombosis, aneurysms, gastrointestinal perforation, etc.)
  • Pregnancy status or plans, and vaccination history
• Key information to tell the doctor during the outpatient visit
  • Recent changes in vision, sudden visual field disturbances, or severe eye pain
  • Leg swelling or pain (suspected deep vein thrombosis), sudden shortness of breath (suspected pulmonary embolism)
  • Severe abdominal pain, black stools, or symptoms of gastrointestinal bleeding
  • Medications started recently or symptoms suspected to be side effects

Examples of General Questions to Ask the Doctor

• What are the main side effects of this medication (the medication currently prescribed)? When should I visit the hospital again?
• What is the standard treatment plan recommended for my current symptoms, and what is the expected treatment duration?
• What is the long-term prognosis of this disease? How high is the risk of vision loss or other complications?
• What should I be careful about in daily life (exercise, work, smoking, oral hygiene, etc.)?
• What measures should I take for vaccination or infection prevention while taking immunosuppressants?

Examples of Disease-Specific Questions

• Regarding ophthalmology: “My vision has recently become blurred and I am experiencing light halos. What emergency measures should I take immediately if ocular inflammation worsens, and how will coordination between ophthalmology and rheumatology treatment be arranged?”
• Regarding thrombosis/vascular disease: “A venous thrombosis in my leg is suspected. Should anticoagulants be started in this case, or should inflammation control (immunosuppression) take priority first? If vascular complications are present, which specialists should I consult together?”

(Presenting these questions in writing during the appointment can make the consultation more efficient.)

---

Note: The information above is general medical information, and the diagnosis and treatment of individual patients may vary according to the assessment of the attending physician.