| Ocular vascular thrombotic events: a diagnostic window to familial thrombophilia (compound factor V Leiden and prothrombin gene heterozygosity) and thrombosis. | |
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MedLine Citation:
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PMID: 18796459 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In a 12-member, 3-generation kindred with conjoint inheritance of G1691A factor V Leiden (FVL) and G20210A prothrombin gene (PTG) mutations, identified through a proband with amaurosis fugax and his father with nonarteritic ischemic optic neuropathy (NAION), the authors' hypothesis was that ocular thrombosis was a diagnostic window to familial thrombophilia-thrombosis. The authors used polymerase chain reaction (PCR) measures for thrombophilia (FVL, PTG, C677T-A1298C methylenetetrahydrofolate reductase [MTHFR], platelet glycoprotein PLA1A2) and hypofibrinolysis (plasminogen activator inhibitor-1 4G4G). The 39-year-old white male proband, with amaurosis fugax and transient ischemic attacks (TIA), was found to be a compound heterozygote for FVL and PTG mutations. His symptoms resolved only after coumadin. His 44-year-old brother (deep venous thrombosis [DVT]) and 46-year-old sister (DVT, pulmonary embolus [PE]) were compound FVL-PTG gene heterozygotes. Of 4 asymptomatic children born to these 3 siblings, 2 were FVL heterozygotes and 2 PTG heterozygotes. The proband's 69-year-old father, with NAION and ischemic stroke, had PTG heterozygosity, familial high factor VIII, and compound MTHFR C677T-A1298C mutation with homocysteinemia. The proband's 61-year-old aunt had PTG heterozygosity, recurrent DVT, and mesenteric artery thrombosis. The proband's 67-year-old mother, free of thrombotic events, was a FVL heterozygote, had high factor VIII, and PAI-1 4G4G homozygosity. In this extended kindred, ocular thrombotic events (amaurosis fugax, NAION) were associated with variegated thrombotic events, including TIA, ischemic stroke, DVT, PE, and mesenteric artery thrombosis, and opened a diagnostic window to family screening and treatment for complex thrombophilias, which had previously been undiagnosed. |
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Authors:
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Charles J Glueck; Ping Wang |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2008-09-15 |
Journal Detail:
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Title: Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis Volume: 15 ISSN: 1076-0296 ISO Abbreviation: Clin. Appl. Thromb. Hemost. Publication Date: 2009 Feb |
Date Detail:
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Created Date: 2009-01-19 Completed Date: 2009-03-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9508125 Medline TA: Clin Appl Thromb Hemost Country: United States |
Other Details:
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Languages: eng Pagination: 12-8 Citation Subset: IM |
Affiliation:
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Cholesterol Center, Jewish Hospital, Cincinnati, Ohio 45229, USA. glueckch@healthall.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amaurosis Fugax / genetics* Factor V / genetics* Humans Male Optic Neuropathy, Ischemic / genetics* Pedigree Polymerase Chain Reaction Prospective Studies Prothrombin / genetics* Pulmonary Embolism / genetics Thrombophilia / genetics* Venous Thrombosis / genetics |
| Grant Support | |
ID/Acronym/Agency:
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//Medical Research Council |
| Chemical | |
Reg. No./Substance:
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0/factor V Leiden; 9001-24-5/Factor V; 9001-26-7/Prothrombin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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