[Resistance to activated protein C by mutation of the factor V gene. Most frequent blood coagulation defect in venous thromboses].
Deep venous thromboses, in particular when recurrent, can be associated with chronic venous leg ulcers. Such complications are often seen in dermatology departments and frequently represent a therapeutic problem. Resistance to activated protein C (APCR) has recently been identified as the most frequent coagulation defect associated with an increased risk of venous thrombosis. In most cases, APCR is caused by a point mutation in the factor V gene which results in an impaired inactivation of activated factor V (Va). As a consequence of this, an important anti-coagulant mechanism in the physiological balance of the hemostatic system is abolished. This autosomal dominantly inherited genetic defects affects about 5% of the general population. In this article we draw attention to the existence of this recently identified, genetically determined risk factor for venous thrombosis, describe recent diagnostic developments and discuss therapeutic options.
Peus
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Hautklinik, Heinrich-Heine-Universität Düsseldorf.
Scharf
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Witt
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Ruzicka
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T
D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005165:Factor V / Q000235:genetics* / Q000502:physiology; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D009842:Oligopeptides / Q000235:genetics* / Q000502:physiology; D017354:Point Mutation / Q000235:genetics; D012307:Risk Factors; D013924:Thrombophlebitis / Q000235:genetics*; D014647:Varicose Ulcer / Q000235:genetics
D009842:Oligopeptides; C047135:protein C activator peptide; D005165:Factor V