Hemophilia

Disease Description (Causes and Symptoms)

• Definition and Causes
  • Hemophilia is a bleeding disorder caused by a congenital deficiency of a specific blood-clotting factor. The main types are hemophilia A, caused by factor VIII deficiency, and hemophilia B (Christmas disease), caused by factor IX deficiency; rarely, factor XI deficiency (hemophilia C) occurs.
  • Hemophilia A and B are mainly inherited as X-linked recessive conditions, so males primarily develop symptoms while females are usually carriers (some carriers may have mild symptoms). Genetic testing can identify F8 and F9 mutations at a high rate (approximately 98% and 99%, respectively).
• Summary of Pathophysiology
  • Deficiency of the clotting factor impairs the intrinsic coagulation pathway, resulting in delayed and persistent bleeding (particularly bleeding into the joints and muscles, and persistent bleeding after surgery or tooth extraction).
• Main Symptoms and Clinical Course
  • Severe: Spontaneous bleeding (hemarthrosis, intramuscular bleeding) occurs within several months after birth or within the first year.
  • Moderate: Mild spontaneous bleeding or persistent bleeding after trauma; usually diagnosed in childhood (before age 5–6).
  • Mild: Spontaneous bleeding is rare, but bleeding becomes a concern after surgery, dental treatment, or severe trauma.
  • Common: Frequent joint bleeding can cause chronic joint damage (hemophilic arthropathy); a history of frequent bleeding and preparation for bleeding before surgery or treatment are important.

Treatment (Standard Treatment, Medications·Procedures·Lifestyle Management, Precautions)

• Acute Bleeding (Emergency)
  • Replacing the deficient factor is the top priority:
    • Hemophilia A: Plasma-derived or concentrated factor VIII products (or fresh frozen plasma or cryoprecipitate) are used. The half-life is approximately 8–12 hours.
    • Hemophilia B: Factor IX concentrates (alone or as a prothrombin complex product) are used. The half-life is approximately 24–32 hours.
  • Transfusion and inpatient treatment may be considered in severe cases or when a large amount of bleeding is expected.
  • Pain relief should be assessed after factor replacement first. Acetaminophen (Tylenol) is relatively safe; NSAIDs (e.g., ibuprofen, indomethacin, phenylbutazone) and aspirin should be avoided.
  • Short-term steroid use for 2–3 days may occasionally be considered for joint bleeding, but the main treatments are factor replacement, rest, and physical therapy.
• Prevention (Prophylaxis)
  • In patients with severe disease, regular factor replacement (e.g., at scheduled intervals) to prevent spontaneous bleeding and joint damage is standard.
  • Recent treatment options:
    • Recombinant factor products and extended half-life products can reduce the frequency of injections.
    • Hemophilia A: emicizumab (subcutaneous injection) is widely used as preventive therapy, particularly because it is also effective in patients with antibodies (inhibitors).
    • Hemophilia B: gene therapy (e.g., approved vector-based single-dose products) may be available for some patient groups; consultation is needed regarding indications, advantages and disadvantages, and long-term effects. Gene therapy clinical studies are also ongoing for hemophilia A.
• Treatment When Inhibitors (Antibodies) Develop
  • If a high-titer inhibitor neutralizes the factor product, bypassing agents (recombinant activated factor VII [rFVIIa], FEIBA, etc.) or immune tolerance induction (ITI) may be considered.
• Other Management
  • Education on home self-injection (self-replacement) enables early treatment and emergency response.
  • A plan for factor replacement in advance of surgery or dental procedures is necessary.
  • When vaccinations or injections are administered, methods such as intravascular or subcutaneous administration and protective measures should be discussed in consideration of the bleeding risk.
  • Rehabilitation: Maintain joint function through joint protection and physical therapy, and manage chronic pain and functional impairment.
  • Psychosocial support and genetic counseling (including carrier testing and explanation of prenatal diagnosis options) are important.

Outpatient Visit Checklist (Things to Bring and Example Questions)

• Things to Bring/Preparations
  • List of current medications (including anticoagulants and anti-inflammatory drugs) and allergy information
  • Recent bleeding records (when, location, and treatment), a bleeding diary, or hospital records
  • Recent test results (PT, PTT, recent factor activity tests, and inhibitor test results) and genetic test results, if available
  • Name, manufacturer, and dosage of the factor product being used; self-injection records or information about stored medication
  • History of previous surgery or central venous catheter (port) insertion, and history of infection
  • Pregnancy plans or, for women, menstrual and childbirth history (carrier-related counseling may be needed)
• Things to Check During an Outpatient Visit (Simple Checklist)
  • Recent bleeding frequency and adverse effects (whether bleeding recurs at the standard dose)
  • Whether inhibitor testing has been performed and when
  • Whether preventive therapy (prophylaxis) has been started and adherence to it
  • Lifestyle (exercise, occupation, and risky activities) and educational status
• Examples of Materials to Show the Medical Staff (If Needed)
  • Recent factor level test results or English/Korean test reports
  • Photos of the medication barcode and injection records (for self-injection)

General Examples of Questions to Ask the Doctor

• What are the expected benefits and common side effects of this medication (or preventive therapy)?
• Based on my (or the patient’s) current factor level, what treatment is recommended, and is preventive therapy necessary?
• What preparation (factor administration schedule) is needed when undergoing surgery or dental treatment?
• If bleeding occurs frequently, when and how is inhibitor (antibody) testing performed?
• Which medications and activities should be avoided in daily life, and which safe forms of exercise are recommended?

Examples of Disease-Specific Questions (1–2)

• What is my (or my child’s) factor VIII/IX activity level (%), and should regular preventive therapy be started immediately based on this level?
• Have inhibitors (antibodies) been detected in the past or recently? If an inhibitor is present, what are the treatment options (such as bypassing therapy or immune tolerance induction), and what is the prognosis?