Congenital deficiency of vitamin K-dependent coagulation factors and protein C

Thromb Haemost. 1984 Jul 29;51(3):343-6.

Abstract

A 15-month-old girl from Coimbra (Portugal) had a history of numerous hemorrhagic episodes with multiple bruises, hematomas but not hemarthroses. On serial testing she showed deficiency of factors II, VII, IX, X and protein C. Malabsorption-induced vitamin K deficiency, liver disease or ingestion of a coumarin compound were excluded. An absence of detectable abnormalities was found among her relatives. Consanguinity was not present. The immunologic assay, immunoelectrophoresis or antibody neutralization, revealed much higher levels of these factors than the clotting assay. The non-physiological activator (Echis carinatus venom) produced higher levels of prothrombin activation than those detected by physiological activation. Two-dimensional immunoelectrophoresis of the patient's plasma in calcium showed that prothrombin had the same mobility as acarboxyprothrombin. No significant response to large doses of intravenous vitamin K3 (6 mg) was observed. Transfusion of 120 ml of frozen fresh plasma led to an immediate increase in the procoagulant activities of vitamin K dependent protein, similar to that found after perfusion of plasma plus vitamin K3. The results obtained from this patient suggest a defect in the gammacarboxylation mechanism inside the hepatocyte.

Publication types

  • Case Reports

MeSH terms

  • Blood Coagulation Disorders / blood*
  • Blood Coagulation Disorders / genetics
  • Blood Coagulation Factors / analysis*
  • Blood Coagulation Tests
  • Factor VII Deficiency
  • Factor X Deficiency
  • Female
  • Glycoproteins / analysis
  • Glycoproteins / deficiency
  • Hemophilia B
  • Humans
  • Hypoprothrombinemias
  • Immunoelectrophoresis
  • Infant
  • Malabsorption Syndromes / blood
  • Male
  • Pedigree
  • Protein C
  • Prothrombin / analysis
  • Vitamin K Deficiency

Substances

  • Blood Coagulation Factors
  • Glycoproteins
  • Protein C
  • Prothrombin