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[Congenital protein C deficiency and thromboembolic diseases]
Insights
Congenital protein C deficiency increases the risk of thromboembolic diseases. This genetic defect
Area of Science:
- Hematology
- Genetics
- Vascular Medicine
Background:
- Protein C is a critical plasma inhibitor of coagulation, alongside cofactor protein S and antithrombin III.
- Congenital protein C deficiency is linked to an increased risk of thromboembolic events.
Abstract:
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.