Factor IX Deficiency

Aka: Factor IX Deficiency, Factor 9 Deficiency, Christmas Disease, Hemophilia B, Plasma Thromboplastin Component Deficiency

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II. Epidemiology

  1. Accounts for 15% of Hemophilia cases (remainder are Hemophilia A which is a Factor VIII Deficiency)

III. Pathophysiology

  1. Inherited sex linked trait
  2. Factor IX Deficiency
  3. Clinically indistinguishable from Hemophilia A (which is the much more common Factor VIII Deficiency)

IV. Symptoms

  1. Chronic history of Bleeding Diathesis since childhood
    1. Spontaneous bleeding
  2. Excessive Hemorrhage follows:
    1. Dental procedures
    2. Surgery

V. Signs

  1. Joint deformities
  2. Muscle contractures

VI. Labs

  1. Factor IX assay decreased
  2. Partial Thromboplastin Time (PTT) prolonged
    1. Corrects with Factor IX supplementation
    2. Corrects with Normal serum

VII. Management: Recombinant Factor IX replacement

  1. Consult Hematology
  2. Indications
    1. Acute Bleeding
    2. Preoperative prophylaxis
  3. Dosing basic regimen
    1. Background
      1. Active Factor IX rises 1% for every Factor IX unit/kg given
      2. Example: 100% replacement = 100 units/kg (up to 140 units/kg)
    2. Initial dose
      1. Factor IX 100 units/kg (up to 140 units/kg) every 8-12 hours OR
      2. Factor IX (desired concentration - current concentration) * wtKg every 8-12 hours
    3. Factor IX Infusion
      1. Load: 100 units/kg (up to 140 units/kg)
      2. Infusion: 4-5 units/hour (directed by Factor IX levels)
    4. Modifiers
      1. Subtract patient's weekly maintenance dose already given (last few days) from the acutely required units
      2. Additional factor dose is needed to overcome inhibitors (if present)
  4. Dosing in major bleeding (directed by involved region and target Factor IX levels)
    1. Major injury with active bleeding or preoperative and perioperative prophylaxis and management
      1. Target: 100% initially, then 80-100% until wound healed, then 30% of normal Factor IX Level until Suture removal
      2. Recombinant Factor IX 100 units/kg initially and then 50 units/kg daily (adjusted for healing)
    2. Joint bleeding (hemarthrosis)
      1. Target: 80% in acute period, then 40% every other day of normal Factor IX Level
      2. Recombinant Factor IX 80 units/kg initially, then 40 units/kg every other day (or every third day) until healed
    3. Gastrointestinal Bleeding
      1. Target: 100% initially, then 50% of normal Factor IX Level until healed
      2. Recombinant Factor IX 100 units/kg initially, then 30-40 units/kg daily
    4. Genitourinary bleeding
      1. Target: 100% initially, then 30% of normal Factor IX Level until healed
      2. Recombinant Factor IX 100 units/kg initially, then 30-40 units/kg daily
    5. CNS Bleeding
      1. Target: 80-100% initially, then 50-100% of normal Factor IX Level for 14 days
      2. Recombinant Factor IX 100 units/kg initially, then 50 units/kg daily
    6. Oral Bleeding
      1. Target: 100% of normal Factor IX Level
      2. Recombinant Factor IX 100 units/kg
      3. Consider topical Fibrinolytic agents
    7. Epistaxis
      1. Target: 80-100% initially, then 30% of normal Factor IX Level until healed
      2. Recombinant Factor IX 80-100 units/kg then 35-40 units/kg daily
    8. Muscle bleeding
      1. Target: 50% of normal Factor IX Level
      2. Recombinant Factor IX 40-60 units/kg daily then 20-30 units/kg every other day until healed
  5. Alternative agents when Factor IX is not available
    1. Fresh Frozen Plasma (FFP) 4 units
      1. Increases Factor IX to only 5%
    2. Prothrombin Complex Concentrate (PCC) 100 units
      1. Risk of thrombosis (reserve only for very serious bleeding such as CNS Hemorrhage)
  6. Adjunctive Agents to Consider
    1. Consult Intervention Radiology and surgery for localized Hemorrhage source control
    2. Aminocaproic Acid (Amicar)
    3. Tranexamic Acid (TXA)
    4. Desmopressin (DDAVP)

VIII. Prevention

  1. Medical alert bracelet
  2. Treatment plan from Hemophilia treatment center
  3. Patients may carry their own factor replacment (preferred)

IX. References

  1. Deloughery and Orman in Majoewsky (2013) EM:Rap 13(9): 1-4
  2. Guest and Herbert in Swadron (2022) EM:Rap 22(4): 9
  3. DiMichele (1996) Pediatr Clin North Am 43(3): 709-36 [PubMed]
  4. Jones (2024) Am Fam Physician 110(1): 58-64 [PubMed]

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Related Studies

Ontology: Hemophilia B (C0008533)

Definition (NCI) An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX.
Definition (MSH) A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008)
Definition (CSP) deficiency of blood coagulation factor IX inherited as an X-linked disorder; clinical features resemble those in hemophilia A, but patients present with fewer symptoms.
Concepts Disease or Syndrome (T047)
MSH D002836
ICD9 286.1
ICD10 D67
SnomedCT 41788008, 234443007, 154817006
English Christmas Disease, Deficiencies, Factor IX, Deficiency, Factor IX, Factor IX Deficiencies, Factor IX Deficiency, Congenital factor IX disorder, Disease, Christmas, Congenital factor IX deficien, Haemophilia B, Hereditary factor IX deficiency, HEMOPHILIA B, FACTOR IX DEFICIENCY, CHRISTMAS DISEASE, HEMB, Hemophilia B, FACTOR IX DEFIC, FACTOR VIIII DEFICIENCY, DEFIC FACTOR IX, CHRISTMAS DIS, factor IX deficiency, Haemophilia B (Factor IX), Hemophilia B (Factor IX), Christmas disease (Factor IX), Hemophilia B (disorder), Hereditary factor IX deficiency disease (disorder), Hereditary factor IX deficiency disease, F9 DEFICIENCY, HEMOPHILIA B LEYDEN, PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY, HEMOPHILIA B(M), Cong factor IX disorder, Hemophilia B [Disease/Finding], b haemophilia, factor ix deficiency, hemophilia b, christmas disease, haemophilia b, b hemophilia, Plasma thromboplastin component [PTC] deficiency, F9 Deficiency, Deficiencies, F9, Hemophilia B(M), Plasma Thromboplastin Component Deficiency, Deficiency, F9, F9 Deficiencies, Hemophilia B Leyden, Hemophilia Bs (M), Factor IX deficiency (disorder), Congenital factor IX deficiency (disorder), B, Hemophilia, Bs, Hemophilia, Haemophilia Bs, Hemophilia Bs, Hereditary Factor IX Deficiency Disease, hemophilia B, factor IX deficiency (hemophilia B), hemophilia B (diagnosis), Sex-linked factor IX deficiency disease, Christmas disease, PTC deficiency disease, Congenital factor IX deficiency, Factor IX deficiency, PTC; deficiency, B; hemophilia, deficiency; PTC, disease (or disorder); Christmas, disease; Christmas, hemophilia; B, Christmas; disease, Hemophilia B, NOS, Haemophilia B, NOS, deficiency; PTC (plasma thromboplastin component), deficiency; plasma thromboplastin component (PTC), plasma thromboplastin; component, deficiency, Deficiency, PTC, Deficiency, plasma thromboplastin component, Deficiency, functional factor IX, Deficiency, factor IX
Italian Deficit di Fattore IX, Disturbi congeniti del fattore IX, Emofilia B (Fattore IX), Malattia di Christmas (fattore IX), Malattia di Christmas, Deficienza del fattore IX, Emofilia B
Dutch hemofilie B (factor IX), congenitale factor IX-deficiëntie, kerstmisziekte (factor IX), B; hemofilie, Christmas; aandoening, PTC; deficiëntie, aandoening; Christmas, deficiëntie; PTC, disease; Christmas, hemofilie; B, Hereditaire factor IX-deficiëntie, factor IX deficiëntie, deficiëntie; PTC (plasmatromboplastine component), deficiëntie; plasmatromboplastine component (PTC), plasmatromboplastine; component, deficiëntie, Christmas-ziekte, Hemofilie B, Factor-IX-deficiëntie
French Hémophilie B (facteur IX), Trouble congénital du facteur IX, Maladie de Christmas (facteur IX), Hémophilie B, Maladie de Christmas, Déficit en facteur IX, Carence héréditaire en facteur IX, Déficit en FIX, Déficit héréditaire en facteur IX, Hémophilie par déficit en facteur IX
German Christmas-Krankheit (Faktor IX), Haemophilie B (Faktor IX), kongenitaler Faktor IX-Mangel, Hereditaerer Faktor-IX-Mangel, FAKTOR VIIII MANGELKRANKHEIT, FAKTOR VIIII MANGEL, Faktor IX-Mangel, Christmas Disease, Faktor-IX-Mangelkrankheit, Faktor-IX-Mangel, Hämophilie B
Portuguese Perturbação congénita do factor IX, Hemofilia B (factor IX), Doença de Christmas (factor IX), Hemofilia B (Factor IX), Carência de factor IX, Deficiência de Fator IX, Doença de Christmas, Hemofilia B
Spanish Trastorno congénito del factor IX, Hemofilia B (Factor IX), Enfermedad de Christmas (Factor IX), deficiencia de factor IX ligada al sexo, enfermedad por deficiencia hereditaria de factor IX, enfermedad por deficiencia hereditaria de factor IX (trastorno), deficiencia hereditaria de factor IX, deficiencia congénita de factor IX, enfermedad de deficiencia de PTC, hemofilia B (trastorno), hemofilia B, enfermedad por deficiencia hereditaria de factor IX ligada al sexo, enfermedad de Christmas, Déficit de factor IX, Deficiencia del Factor IX, Enfermedad de Christmas, Hemofilia B
Japanese 第ＩＸ因子欠乏症, クリスマス病（第ＩＸ因子）, 先天性第ＩＸ因子障害, 血友病Ｂ（第ＩＸ因子）, ｹﾂﾕｳﾋﾞｮｳBﾀﾞｲ9ｲﾝｼ, ﾀﾞｲ9ｲﾝｼｹﾂﾎﾞｳｼｮｳ, ｸﾘｽﾏｽﾋﾞｮｳﾀﾞｲ9ｲﾝｼ, ｾﾝﾃﾝｾｲﾀﾞｲ9ｲﾝｼｼｮｳｶﾞｲ, 血友病B, B型血友病, Christmas病, PTC欠乏症, クリスマス因子欠乏症, クリスマス病, 先天性第9因子欠乏症, 血液凝固第9因子欠乏症, 血液凝固第IX因子欠乏症
Swedish Hemofili B
Czech hemofilie B, Christmasova choroba, Deficit faktoru IX, Hemofilie B (deficit faktoru IX), Deficit Christmas faktoru (faktoru IX), Vrozená porucha faktoru IX
Finnish Hemofilia B
Russian FAKTORA IKH DEFITSIT, GEMOFILIIA B, KRISTMASA BOLEZN', ГЕМОФИЛИЯ B, КРИСТМАСА БОЛЕЗНЬ, ФАКТОРА IХ ДЕФИЦИТ
Korean 유전성 제9인자 결핍증
Croatian HEMOFILIJA B
Polish Niedobór czynnika IX, Niedobór czynnika PTC, Choroba Christmasa, Hemofilia B
Hungarian B-típusú vérzékenység (faktor IX), Veleszületett IX-faktor betegség, Christmas-betegség (IX-faktor), Faktor IX hiány, Haemophilia B (faktor IX)
Norwegian Hemofili B, Nedarvet blødersykdom grunnet mangel på faktor IX, Faktor IX-mangel, Christmas' sykdom
Derived from the NIH UMLS (Unified Medical Language System)

Related Topics in Coagulopathy

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