[APC resistance--most frequent familial thrombophilia].
Two sisters having suffered from deep vein thrombosis while taking oral contraceptives are presented. Investigation for thrombophilia in 1993 was unrevealing. After the discovery of activated protein C (APC) resistance caused by the factor V R506Q (FV Leiden) mutation in 1993/1994, reinvestigation showed homozygous FV Leiden mutation in both sisters. APC resistance is the most frequent hereditary thrombophilia known so far. Diagnosis, prevalence and clinical significance of this thrombophilic defect are shortly discussed.
Herren
S
S
Lämmle
B
B
D020016:Activated Protein C Resistance / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D003276:Contraceptives, Oral / Q000009:adverse effects; D003937:Diagnosis, Differential; D005165:Factor V / Q000235:genetics; D005260:Female; D006801:Humans; D017354:Point Mutation / Q000235:genetics; D012307:Risk Factors; D019851:Thrombophilia / Q000175:diagnosis / Q000235:genetics*; D013924:Thrombophlebitis / Q000175:diagnosis / Q000235:genetics
D003276:Contraceptives, Oral; C095381:factor V Leiden; D005165:Factor V