Coexistence of Hereditary Homocystinuria and Factor V Leiden — Effect on Thrombosis
Open Access
- 21 March 1996
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 334 (12) , 763-768
- https://doi.org/10.1056/nejm199603213341204
Abstract
Venous and arterial thromboembolism occurs in only about one third of patients homozygous for homocystinuria, which suggests that other, contributory factors are necessary for the development of thrombosis in these patients. Factor V Leiden, an R506Q mutation in the gene coding for factor V, is the most common cause of familial thrombosis and could be a potentiating factor.Keywords
This publication has 26 references indexed in Scilit:
- Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V Leiden mutationThe Lancet, 1994
- High prevalence of hyperhomocyst(e)inemia in patients with juvenile venous thrombosis.Arteriosclerosis and Thrombosis: A Journal of Vascular Biology, 1994
- Mutation in blood coagulation factor V associated with resistance to activated protein CNature, 1994
- Hyperhomocysteinemia: An Independent Risk Factor for Vascular DiseaseNew England Journal of Medicine, 1991
- Antiphospholipid Antibodies and Recurrent Pregnancy LossAmerican Journal of Reproductive Immunology, 1989
- Microvillus Inclusion Disease: An Inherited Defect of Brush-Border Assembly and DifferentiationNew England Journal of Medicine, 1989
- Vitamin B12 responsive homocystinuria and megaloblastic anemia: Heterogeneity in methylcobalamin deficiencyAmerican Journal of Medical Genetics, 1987
- Cobalamin inactivation decreases purine and methionine synthesis in cultured lymphoblasts.Journal of Clinical Investigation, 1985
- Folate Distribution in Cultured Human CellsJournal of Clinical Investigation, 1979
- Cystathionine Synthase in Tissue Culture Derived from Human Skin: Enzyme Defect in HomocystinuriaScience, 1968