[Congenital protein C deficiency and thromboembolic diseases].
Besides its cofactor protein S and antithrombin III, protein C is one of the most important inhibitors of plasma coagulation. In seven members of a family as well as in three further unrelated patients, a congenital protein C deficiency with thromboembolic diseases including a coumarin necrosis was observed in two cases. Deficiency of protein C predisposes to the occurrence of thromboembolism, but the severity of the underlying heterozygotic genetic defect can also vary within the family. Long-term oral anticoagulation with phenprocoumon is the therapy of choice. Genetic counselling should always be carried out.
D000328:Adult; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D020151:Protein C Deficiency; D011488:Protein Deficiency / Q000150:complications / Q000151:congenital* / Q000235:genetics; D013923:Thromboembolism / Q000209:etiology* / Q000235:genetics
Kongenitaler Protein-C-Mangel und thromboembolische Erkankungen.