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Factor IX DeficiencyAka: Christmas Disease, Hemophilia B, Plasma thromboplastin component deficiency

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  1. Pathophysiology
    1. Inherited sex linked trait
    2. Clinically indistinguishable from Hemophilia A
  2. Symptoms
    1. Chronic history of Bleeding Diathesis since childhood
      1. Spontaneous bleeding
    2. Excessive hemorrhage follows:
      1. Dental procedures
      2. Surgery
  3. Signs
    1. Joint deformities
    2. Muscle contractures
  4. Labs
    1. Partial Thromboplastin Time (PTT) prolonged
      1. Corrects with Factor IX supplementation
      2. Corrects with Normal serum

Hemophilia B (C0008533)

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.
ConceptsDisease or Syndrome (T047)
ICD9286.1, 286.1
MSHD002836
EnglishANTIHEMOPHILIC FACTOR B DEFICIENCY, AUTOPROTHROMBIN II DEFICIENCY, CHRISTMAS DIS, Christmas Disease, CONG FACTOR IX DISORDER, Congenital factor IX deficiency, Congenital factor IX disorder, DEFIC FACTOR IX, FACTOR IX DEFIC, Factor IX Deficiencies, Factor IX Deficiency, FACTOR VIIII DEFICIENCY, Haemophilia B, Haemophilia Bs, Hemophilia B, Hemophilia Bs, Hereditary factor IX deficiency disease, PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY, PTC DEFICIENCY, PTC deficiency disease, Sex-linked factor IX deficiency disease
Spanishdeficiencia de factor IX ligada al sexo, deficiencia hereditaria de factor IX, enfermedad de Christmas, enfermedad de deficiencia de PTC, hemofilia B
Parent ConceptsBlood Coagulation Disorders (C0005779), Hereditary Diseases (C0019247), Hemorrhagic Disorders (C0019087), Coagulation Protein Disorders (C0600503), Blood Coagulation Disorders, Inherited (C0852077), Genetic Diseases, X-Linked (C1138434), Hemophilia, NOS (C0684275), Hereditary disorder by system (C1285301), Duplicate concept (C1274013)
SourcesCOSTAR, CSP, DXP, ICD9CM, MSH, MTH, MTHICD9, NCI, NDFRT, QMR, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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