[Activated protein C resistance--a recently discovered hereditary thrombophilia].
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| Abstract |
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.
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| Authors | L Moland, P M Sandset |
| Journal | Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke (Tidsskr Nor Laegeforen) Vol. 118 Issue 23 Pg. 3590-5 (Sep 30 1998) ISSN: 0029-2001 [Print] Norway |
| Vernacular Title | Aktivert protein C-resistens--ein nyleg oppdaga arveleg trombofili. |
| PMID | 9820002 (Publication Type: Case Reports, English Abstract, Journal Article, Research Support, Non-U.S. Gov't) |
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