Document Detail

Ocular vascular thrombotic events: a diagnostic window to familial thrombophilia (compound factor V Leiden and prothrombin gene heterozygosity) and thrombosis.
MedLine Citation:
PMID:  18796459     Owner:  NLM     Status:  MEDLINE    
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.
Charles J Glueck; Ping Wang
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-09-15
Journal Detail:
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:
Created Date:  2009-01-19     Completed Date:  2009-03-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508125     Medline TA:  Clin Appl Thromb Hemost     Country:  United States    
Other Details:
Languages:  eng     Pagination:  12-8     Citation Subset:  IM    
Cholesterol Center, Jewish Hospital, Cincinnati, Ohio 45229, USA.
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MeSH Terms
Amaurosis Fugax / genetics*
Factor V / genetics*
Optic Neuropathy, Ischemic / genetics*
Polymerase Chain Reaction
Prospective Studies
Prothrombin / genetics*
Pulmonary Embolism / genetics
Thrombophilia / genetics*
Venous Thrombosis / genetics
Grant Support
//Medical Research Council
Reg. No./Substance:
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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