Resistance activated C protein: a new case of thrombophilia

Abstract

Venous thromboembolism is a serious medical problem causing considerable suffering and occasional death. There are circumstantial risk factors: Surgery, immobilization, pregnancy and the use of oral contraceptives. In addition, there are genetic risk factors: Deficiencies of protein C, protein S, antithrombin III, and disfibrinogenemia. Recently, inherited resistance to the anticoagulant action of activated C protein was found to be a factor involved in pathogenesis. In most cases this is caused by a single point mutation in the factor V gene. The molecular basis of the mutation, the clinical manifestations, diagnostic methods and guidelines for management are described.