[Activated protein C resistance--a recently discovered hereditary thrombophilia].
Activated protein C resistance is an inherited thrombophilia caused by a point mutation in the factor V gene (G to A transition in nucleotide 1691 in the factor V gene with replacement of arginine (R) 506 by glutamine (Q) in the factor V molecule). The mutation is commonly named factor V R506Q or factor V Leiden. The mutation results in a poor anticoagulant response to activated protein C. APC resistance is inherited autosomally, and approximately 5-10% of the Norwegian population are carriers of the mutation. It is present in 20-50% of all cases of venous thromboembolism. Among asymptomatic heterozygous family members of affected individuals there is a five to eight-fold increase in the risk of venous thromboembolism, whereas there may be a 100-fold increased risk among homozygous individuals. The risk for asymptomatic carriers without a family history is yet not known. Activated protein C resistance is a major risk factor for venous thromboembolism, and the detection of activated protein C resistance is vital for proper prophylaxis and treatment of this disorder. It is essential therefore that as many medical specialists as possible acquire knowledge of activated protein C resistance. This report describes a family with activated protein C resistance and the main indications for screening for inherited thrombophilia.
Moland
L
L
Hematologisk forskningslaboratorium Medisinsk klinikk Ullevål sykehus, Oslo.
Sandset
P M
PM
D020016:Activated Protein C Resistance / Q000150:complications / Q000235:genetics*; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D010375:Pedigree; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000209:etiology; D019851:Thrombophilia / Q000209:etiology / Q000235:genetics*; D013924:Thrombophlebitis / Q000209:etiology / Q000235:genetics* / Q000517:prevention & control
Aktivert protein C-resistens--ein nyleg oppdaga arveleg trombofili.