Hemophilia A

Aka: Hemophilia A, Hemophilia, Factor VIII Deficiency, Congenital Factor VIII Deficiency, Classic Hemophilia

II. Epidemiology

  1. Most common hereditary Coagulation Disorder (1:10,000)
  2. Accounts for 80-90% of Hemophilia cases (remainder are primarily Hemophilia B which is a Factor IX Deficiency)

III. Types

  1. Hemophilia A (Classic Hemophilia)
    1. Factor VIII Deficiency
  2. Hemophilia B (Christmas Disease)
    1. Factor IX Deficiency
  3. Hemophilia C
    1. Rare form of Hemophilia primarily affecting Ashkenazi jewish patients

IV. Grading: Hemophilia severity is based on amount of residual active Clotting Factor

  1. Mild disease: 5-40% of normal Clotting Factor activity maintained
    1. Bleeding occurs only with significant Trauma or major surgery
    2. Bleeding events are uncommon and similar to a frequency of those without Hemophilia
  2. Moderate disease: 1-5% of normal Clotting Factor activity maintained
    1. Bleeding occurs with minor Trauma and may occur spontaneously
    2. Bleeding events may occur monthly
  3. Severe disease: <1% of normal Clotting Factor activity maintained
    1. Accounts for two-thirds of Hemophilia patients
    2. Risk of spontaneous bleeding, and events may occur weekly
    3. Major, life-threatening bleeding includes Intracranial Bleeding, Gastrointestinal Bleeding
    4. Most common bleeding is within joints (hemarthrosis), esp. ankles, knees, elbows

V. Pathophysiology

  1. X-linked recessive deficiency of factor VIII
    1. Limited to males in most cases (although uncommon cases in females)
    2. Most cases occur in patients with a Family History of Hemophilia A (but spontaneous mutation may occur)

VI. Symptoms

  1. Excessive bleeding from slight Trauma
    1. Dental extraction
    2. Surgery
  2. Visceral and mucosal bleeding
    1. Gastrointestinal beeding
    2. Epistaxis
  3. Hemarthrosis (intraarticular bleeding)
    1. Most commonly affects ankles, knees, and elbows, but may occur within any joint
    2. Contractures
    3. Degenerative Arthritis

VII. Labs

  1. Partial Thromboplastin Time (PTT) elevated
  2. ProTime (INR/PT) normal

VIII. Management: Recombinant Factor VIII replacement

  1. Indications
    1. Acute Bleeding
    2. Preoperative prophylaxis
  2. Dosing basic regimen
    1. Background
      1. Hemophilia severity is based on amount of residual active Clotting Factor
      2. Half-life of Factor VIII is 12 hours
      3. Active Factor VIII rises 2% for every Factor VIII unit/kg given
      4. Immune response to factor replacement may occur in some Hemophilia A patients
        1. Patient generates inhibitors that deactivate replacement rendering it less effective
    2. Typical dosing
      1. Factor VIII 50 units/kg every 8-12 hours OR
      2. Factor VIII (desired concentration - current concentration) * wtKg every 8-12 hours
    3. Factor VIII Infusion
      1. Load: 50 units/kg
      2. Infusion: 4-5 units/hour (directed by Factor VIII levels)
  3. Dosing in major bleeding (directed by involved region and target Factor VIII levels)
    1. Major injury with active bleeding or preoperative and perioperative prophylaxis and management
      1. Target: 100% initially, then 80-100% until wound healed (14 days)
        1. Follow with 30% of normal Factor VIII Level until Suture removal
      2. Recombinant Factor VIII 50 units/kg every 12 hours (adjusted for healing)
    2. Joint bleeding (hemarthrosis)
      1. Target: 80% in acute period, then 40% every other day of normal Factor VIII Level
      2. Recombinant Factor VIII 40 units/kg initially, then 20 units/kg every other day until healed (1-3 days)
      3. Splint joint and consult orthopedics
    3. Gastrointestinal Bleeding
      1. Target: 100% initially, then 50% of normal Factor VIII Level until healed (7-10 days)
      2. Recombinant Factor VIII 50 units/kg initially, then 30-40 units/kg daily
    4. Genitourinary bleeding
      1. Target: 100% initially, then 30% of normal Factor VIII Level until healed (1-3 days)
      2. Recombinant Factor VIII 50 units/kg initially, then 30-40 units/kg daily
    5. CNS Bleeding
      1. Target: 80-100% initially, then 50-100% of normal Factor VIII Level for 14 days
      2. Recombinant Factor VIII 50 units/kg initially, then 25 units/kg every 12 hours
    6. Oral Bleeding
      1. Target: 100% initially, then 50% of normal Factor VIII Level (1-2 days)
      2. Recombinant Factor VIII 50 units/kg initially, then 25 units/kg daily
      3. Consider topical fibrinolytic agents
    7. Epistaxis
      1. Target: 80-100% initially, then 30% of normal Factor VIII Level until healed (1-3 days)
      2. Recombinant Factor VIII 40-50 units/kg then 30-40 units/kg daily
    8. Muscle bleeding
      1. Target: 50% of normal Factor VIII Level
      2. Recombinant Factor VIII 20-40 units/kg daily until healed (1-3 days)
  4. Alternative agents when Factor VIII is not available
    1. Cryoprecipitate 10 units
      1. Increases Factor VIII to over 100%
    2. Activated Prothrombin Complex Concentrate (FEIBA)
    3. Non-activated Prothrombin Complex Concentrate (e.g. Kcentra)
  5. References
    1. Deloughery and Orman in Majoewsky (2013) EM:Rap 13(9): 1-4
    2. DiMichele (1996) Pediatr Clin North Am 43(3): 709-36 [PubMed]

IX. References

  1. Swaminathan and Patel in Herbert (2019) EM:Rap 19(10): 1-3

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Ontology: Hemophilia A (C0019069)

Definition (NCI) An inherited deficiency of coagulation factor VIII characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage. Inherited as an x-linked recessive disease, hemophilia A is the most common hemophilia, occurring in approximately 1 in 10,000 male births.
Definition (MSH) The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.
Definition (CSP) classic hemophilia resulting from a deficiency of factor VIII; an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.
Concepts Disease or Syndrome (T047)
MSH D006467
ICD9 286.0
ICD10 D66
SnomedCT 28293008, 234440005
English Hemophilia, Congenital factor VIII disorder, Hemophilia A, HEMOPHILIA A, Cong factor VIII deficiency, Hereditary factor VIII deficiency, FACTOR VIII DEFICIENCY, AUTOSOMAL HEMOPHILIA A, Haemophilia, factor VIII deficiency (hemophilia), Haemophilia A (Factor VIII), Hemophilia A (Factor VIII), Hemophilia A (disorder), Hereditary factor VIII deficiency disease (disorder), Haemophilia A, Hereditary factor VIII deficiency disease, Cong factor viii diord, Hemophilias, Classic, Congenital Hemophilia A, Classic Hemophilia, Classic Hemophilias, Congenital Hemophilia As, Hemophilia A, Congenital, Hemophilia, Classic, Hemophilia As, Congenital, Hemophilia A [Disease/Finding], haemophilia a, congenital factor viii disorder, hemophilia a, factor viii deficiency, factor viii hemophilia, Hemophilia NOS, Hereditary Factor VIII Deficiency, Hemophilia As, Factor VIII Deficiency, Hereditary Factor VIII Deficiency Disease, hemophilia A (diagnosis), hemophilia A, Classical hemophilia, AHG deficiency disease, Congenital factor VIII deficiency disease, Sex-linked factor VIII deficiency, Congenital factor VIII deficiency, Classical haemophilia, Factor VIII deficiency, Factor VIII deficiency (disorder), A; hemophilia, classical; hemophilia, deficiency; anti-hemophilic globulin, hemophilia; A, hemophilia; classical, anti-hemophilic globulin; deficiency, Hemophilia A, NOS, Haemophilia A, NOS, factor VIII deficiency, AHG deficiency, Antihemophilic globulin deficiency, Hemophilia, classical, Functional factor VIII deficiency, Hemophilia, familial, Hemophilia, hereditary, Subhemophilia
Italian Deficit di Fattore VIII, Disturbi congeniti del fattore VIII, Emofilia A (Fattore VIII), Emofilia, Emofilia A congenita, Emofilia classica, Emofilia A
Dutch hemofilie A (factor VIII), hemofilie A, congenitale factor VIII-deficiëntie, A; hemofilie, anti-hemofilieglobuline; deficiëntie, deficiëntie; anti-hemofilieglobuline, hemofilie; A, hemofilie; klassiek, klassiek; hemofilie, Hereditaire factor VIII-deficiëntie, factor VIII-deficiëntie, Hemofilie, Hemofilie A, Factor-VIII-deficiëntie
French Hémophilie A (facteur VIII), Trouble congénital du facteur VIII, Déficit en facteur anti-hémophilique A, Hémophilie A, Déficit en FVIII, Déficit en facteur VIII, Déficit en facteur antihémophilique A, Déficit héréditaire en facteur VIII, Hémophilie classique
German Haemophilie A (Faktor VIII), kongenitaler Faktor VIII-Mangel, Hereditaerer Faktor-VIII-Mangel, Haemophilie, Haemophilie A, Faktor VIII-Mangel, Hämophilie A, Hämophilie
Portuguese Hemofilia A (factor VIII), Hemofilia A (Factor VIII), Perturbação congénita do factor VIII, Carência de factor VIII, Hemofilia A, Hemofilia
Spanish Hemofilia A (Factor VIII), Trastorno congénito del factor VIII, hemofilia A, enfermedad de deficiencia del factor congénito VIII, enfermedad por deficiencia hereditaria de factor VIII (trastorno), enfermedad por deficiencia hereditaria de factor VIII, deficiencia congénita de factor VIII, hemofilia A (trastorno), deficiencia de factor VIII (trastorno), deficiencia de factor VIII, deficiencia hereditaria de factor VIII ligada al sexo, deficiencia hereditaria de factor VIII, hemofilia clásica, Déficit de factor VIII, Hemofilia A, Hemofilia
Japanese 第ＶＩＩＩ因子欠乏症, 血友病Ａ, 先天性第ＶＩＩＩ因子障害, 血友病Ａ（第ＶＩＩＩ因子）, ﾀﾞｲ8ｲﾝｼｹﾂﾎﾞｳｼｮｳ, ｾﾝﾃﾝｾｲﾀﾞｲ8ｲﾝｼｼｮｳｶﾞｲ, ｹﾂﾕｳﾋﾞｮｳAﾀﾞｲ8ｲﾝｼ, ｹﾂﾕｳﾋﾞｮｳA, 血友病, A型血友病, 第8因子欠乏症, 第VIII因子欠乏症, 血友病A, 血友病症, 血液凝固第8因子欠乏, 血液凝固第8因子欠乏症, 血液凝固第VIII因子欠乏症
Swedish Blödarsjuka
Czech hemofilie A, Deficit faktoru VIII, Hemofilie A (deficit faktoru VIII), Vrozená porucha faktoru VIII, Hemofilie A, nedostatek faktoru VIII, hemofilie, nedostatek koagulačního faktoru VIII
Finnish Hemofilia A
Russian GEMOFILIIA A, FAKTORA VIII NEDOSTATOCHNOST', GEMOFILIIA, ГЕМОФИЛИЯ A, ГЕМОФИЛИЯ, ФАКТОРА VIII НЕДОСТАТОЧНОСТЬ
Korean 유전성 제8인자 결핍증
Croatian HEMOFILIJA A
Polish Hemofilia A, Krwawiączka, Niedobór czynnika VIII, Hemofilia
Hungarian A-típusú haemophilia, A-típusú haemophilia (VIII-faktor), Veleszületett VIII-faktor-betegség, Haemophilia A (faktor VIII), Haemophilia A, Faktor VIII hiány
Norwegian Hemofili A, Haemophilia, Klassisk hemofili, Hemofili
Derived from the NIH UMLS (Unified Medical Language System)

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