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

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.

Authors

, , , ,

Source

Thrombosis and haemostasis 51:3 1984 Jul 29 pg 343-6

MeSH

Blood Coagulation Disorders
Blood Coagulation Factors
Blood Coagulation Tests
Factor VII Deficiency
Factor X Deficiency
Female
Glycoproteins
Hemophilia B
Humans
Hypoprothrombinemias
Immunoelectrophoresis
Infant
Malabsorption Syndromes
Male
Pedigree
Protein C
Prothrombin
Vitamin K Deficiency

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6548583

Citation

Vicente, V, et al. "Congenital Deficiency of Vitamin K-dependent Coagulation Factors and Protein C." Thrombosis and Haemostasis, vol. 51, no. 3, 1984, pp. 343-6.
Vicente V, Maia R, Alberca I, et al. Congenital deficiency of vitamin K-dependent coagulation factors and protein C. Thromb Haemost. 1984;51(3):343-6.
Vicente, V., Maia, R., Alberca, I., Tamagnini, G. P., & Lopez Borrasca, A. (1984). Congenital deficiency of vitamin K-dependent coagulation factors and protein C. Thrombosis and Haemostasis, 51(3), pp. 343-6.
Vicente V, et al. Congenital Deficiency of Vitamin K-dependent Coagulation Factors and Protein C. Thromb Haemost. 1984 Jul 29;51(3):343-6. PubMed PMID: 6548583.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital deficiency of vitamin K-dependent coagulation factors and protein C. AU - Vicente,V, AU - Maia,R, AU - Alberca,I, AU - Tamagnini,G P, AU - Lopez Borrasca,A, PY - 1984/7/29/pubmed PY - 1984/7/29/medline PY - 1984/7/29/entrez SP - 343 EP - 6 JF - Thrombosis and haemostasis JO - Thromb. Haemost. VL - 51 IS - 3 N2 - 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. SN - 0340-6245 UR - https://www.unboundmedicine.com/medline/citation/6548583/Congenital_deficiency_of_vitamin_K_dependent_coagulation_factors_and_protein_C_ L2 - http://www.diseaseinfosearch.org/result/6000 DB - PRIME DP - Unbound Medicine ER -