PMID: 9423212Jan 10, 1998Paper

The inherited basis of venous thrombosis

Pathology
R D Appleby, R J Olds

Abstract

Venous thrombosis represents a manifestation of disordered hemostatic balance. The classical presentation is of pain and swelling of the lower limb, although clinical history and examination are notoriously misleading in reaching a diagnosis. A number of acquired predispositions have been associated with a tendency to thrombosis, such as immobilisation, surgery, malignancy and certain types of oral contraception, but in at least half of the instances no predisposition can be identified. A variety of genetic risk factors have also been identified. Mutations within the genes for antithrombin, protein C and protein S are associated with a venous thromboembolic phenotype. The commonest thrombophilic predisposition however is a variant of coagulation factor V, factor V Leiden, which results from a single amino acid substitution rendering the factor V molecule resistant to activated protein C. Factor V Leiden is present in approximately 5% of individuals of European origin, and is found in up to 40% of those with confirmed venous thrombosis. Increasingly it is recognised that venous thrombosis should be considered a polygenic disorder, with interactions between the various single gene defects which predispose to thrombosis, as well a...Continue Reading

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Citations

Sep 11, 1999·American Journal of Ophthalmology·K GreinerN Pfeiffer
Nov 26, 2003·Journal of Neurology, Neurosurgery, and Psychiatry·Z SzolnokiB Melegh
Dec 1, 2013·European Journal of Trauma and Emergency Surgery : Official Publication of the European Trauma Society·S Decker, M J Weaver
May 3, 2006·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Adriano de Paula SabinoAna Paula Fernandes
Sep 11, 2014·Foot & Ankle Specialist·Kalpesh ShahStephen J Pinney
Nov 21, 2007·Foot & Ankle International·Robert E MayleLoretta B Chou
Nov 19, 2014·Evidence-based Child Health : a Cochrane Review Journal·Naohiro YonemotoRintaro Mori
May 20, 2000·Annals of the New York Academy of Sciences·C PitsavosP Toutouzas

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