| Recurrent deep vein thrombosis and pulmonary embolism in a young man with Klinefelter's syndrome and heterozygous mutation of MTHFR-677C>T and 1298A>C. | |
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MedLine Citation:
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PMID: 20449891 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Klinefelter's syndrome is characterized by hypogonadism and infertility and commonly has an XXY karyotype. Within the population of men with this disorder, there is an increased incidence of venous thromboembolic disease. Although the precise mechanisms underlying this prothrombotic state have not been elucidated, it is thought that the increased incidence of thromboembolism is associated with a hypofibrinolytic state secondary to androgen deficiency. We present the case of a 26-year-old man with Klinefelter's syndrome who had recurrent episodes of deep venous thrombosis and pulmonary embolism while undergoing therapeutic anticoagulation. Coagulation studies were significant for the heterozygous mutations of MTHFR-677C>T and 1298A>C gene and hyperhomocystenemia. Our aim is to raise awareness of this association and discuss management for these patients. |
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Authors:
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Joel R Angel; Stacey Parker; Ryan E Sells; Ehab Atallah |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis Volume: 21 ISSN: 1473-5733 ISO Abbreviation: Blood Coagul. Fibrinolysis Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-05-06 Completed Date: 2010-08-09 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9102551 Medline TA: Blood Coagul Fibrinolysis Country: England |
Other Details:
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Languages: eng Pagination: 372-5 Citation Subset: IM |
Affiliation:
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Department of Medicine, Medical College of Wisconsin, Milwaukee, USA. jangel@mcw.edu <jangel@mcw.edu> |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Anticoagulants
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therapeutic use Heterozygote Humans Klinefelter Syndrome / complications* Male Methylenetetrahydrofolate Reductase (NADPH2) / genetics* Mutation* Pulmonary Embolism / complications*, drug therapy Venous Thrombosis / complications*, drug therapy Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Anticoagulants; EC 1.5.1.20/Methylenetetrahydrofolate Reductase (NADPH2) |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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