Increased Resistance to activated Protein C and Protein C Deficiency in the same Family

摘要

In 1993 we got information about the so-called resistance to activated protein C (aPCR) as a cause of hereditary thrombophilia [3]. The aPCR doesn't represent a deficiency of any protein involved in the process of coagulation and/or fibrinolysis but is caused by a point mutation (G1691 A) in the gene encoding for coagulation factor V [1], As the consequence, an amino acid substitution Arg ― Gin in position 506 of the factor V molecule results. The cleaving rate of this altered factor V by activated protein C is therefore markedly reduced and a hyper-coagulable state results.