Prothrombin G20210A and methylenetetrahydrofolate reductase C677T polymorphisms in peripheral capillary nonperfusion: a case report
The G20210A mutation in the prothrombin gene is an established risk factor for venous thrombosis. However, there is some controversy as to the role played by this mutation in arterial thrombotic disease. The association of peripheral capillary nonperfusion with prothrombin G20210A mutation has never...
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| Veröffentlicht in: | Blood coagulation & fibrinolysis 2015-09, Vol.26 (6), p.682-684 |
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| container_title | Blood coagulation & fibrinolysis |
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| creator | Wathek, Chaima Mrad, Meriem Abdessalem, Nadia Ben Maalej, Afef Gritli, Nasreddine Gabsi, Salem Rannen, Riadh Fekih-Mrissa, Najiba |
| description | The G20210A mutation in the prothrombin gene is an established risk factor for venous thrombosis. However, there is some controversy as to the role played by this mutation in arterial thrombotic disease. The association of peripheral capillary nonperfusion with prothrombin G20210A mutation has never been reported before. We present the case of 34-year-old man who presented with peripheral capillary nonperfusion. The fundus examination of his right eye revealed an epiretinal membrane, peripheral (mainly temporally) retinal haemorrhages, exudates and microaneurismal alterations of the vascular bed. Fluorescein angiography of his right eye demonstrated an extended area of capillary nonperfusion distal to the microaneurismal lesions. Evaluation revealed mutations of the G20210A prothrombin and MTHFR genes. Screening for hereditary thrombophilia should be considered, regardless of patient age, in patients with peripheral retinal ischemia. The prothrombin G20210A mutation, a genetic risk factor, may be associated with peripheral capillary nonperfusion. |
| doi_str_mv | 10.1097/MBC.0000000000000311 |
| format | Article |
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However, there is some controversy as to the role played by this mutation in arterial thrombotic disease. The association of peripheral capillary nonperfusion with prothrombin G20210A mutation has never been reported before. We present the case of 34-year-old man who presented with peripheral capillary nonperfusion. The fundus examination of his right eye revealed an epiretinal membrane, peripheral (mainly temporally) retinal haemorrhages, exudates and microaneurismal alterations of the vascular bed. Fluorescein angiography of his right eye demonstrated an extended area of capillary nonperfusion distal to the microaneurismal lesions. Evaluation revealed mutations of the G20210A prothrombin and MTHFR genes. Screening for hereditary thrombophilia should be considered, regardless of patient age, in patients with peripheral retinal ischemia. The prothrombin G20210A mutation, a genetic risk factor, may be associated with peripheral capillary nonperfusion.</description><identifier>ISSN: 0957-5235</identifier><identifier>EISSN: 1473-5733</identifier><identifier>DOI: 10.1097/MBC.0000000000000311</identifier><identifier>PMID: 26083981</identifier><language>eng</language><publisher>England: Copyright YEAR Wolters Kluwer Health, Inc. All rights reserved</publisher><subject>Adult ; Hemostatics - metabolism ; Humans ; Male ; Methylenetetrahydrofolate Reductase (NADPH2) - genetics ; Mutation ; Polymorphism, Genetic ; Prothrombin - metabolism ; Risk Factors</subject><ispartof>Blood coagulation & fibrinolysis, 2015-09, Vol.26 (6), p.682-684</ispartof><rights>Copyright © 2015 YEAR Wolters Kluwer Health, Inc. 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However, there is some controversy as to the role played by this mutation in arterial thrombotic disease. The association of peripheral capillary nonperfusion with prothrombin G20210A mutation has never been reported before. We present the case of 34-year-old man who presented with peripheral capillary nonperfusion. The fundus examination of his right eye revealed an epiretinal membrane, peripheral (mainly temporally) retinal haemorrhages, exudates and microaneurismal alterations of the vascular bed. Fluorescein angiography of his right eye demonstrated an extended area of capillary nonperfusion distal to the microaneurismal lesions. Evaluation revealed mutations of the G20210A prothrombin and MTHFR genes. Screening for hereditary thrombophilia should be considered, regardless of patient age, in patients with peripheral retinal ischemia. The prothrombin G20210A mutation, a genetic risk factor, may be associated with peripheral capillary nonperfusion.</description><subject>Adult</subject><subject>Hemostatics - metabolism</subject><subject>Humans</subject><subject>Male</subject><subject>Methylenetetrahydrofolate Reductase (NADPH2) - genetics</subject><subject>Mutation</subject><subject>Polymorphism, Genetic</subject><subject>Prothrombin - metabolism</subject><subject>Risk Factors</subject><issn>0957-5235</issn><issn>1473-5733</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1v2zAMhoWiQ5tl-wfDoGMv7vRhRXZvbbClBTKsh_Zs0DINe5UtV5IR5Nw_PgVph2KH8UKAfPiSfAn5wtklZ6X-9vNmfcneh-T8hCx4rmWmtJSnZMFKpTMlpDonH0P4fWDyQp-Rc7FihSwLviAv997Fzruh7ke6EUxwdk1hbOiAsdtbHDFi9NDtG-9aZyEi9djMJkJAul5p_UAnZ_eD81PXhyHQJDOh76cOPVhqYOqtBb-noxtTvZ1D78YrCqkTDlKT8_ET-dCCDfj5NS_J44_vD-vbbPtrc7e-3mZGMsUzhdjqHAtRqwa0MUqIsl4JTF8CNqypIQdQSqwUalVDqwoBDQpuhKpNXki5JBdH3cm75xlDrIY-GEz3jejmUHHNeFHKMmcJzY-o8S4Ej201-X5If1ScVQf7q2R_9a_9aezr64a5HrD5O_TmdwKKI7BzNqIPT3beoa86BBu7_2v_AemMk4c</recordid><startdate>201509</startdate><enddate>201509</enddate><creator>Wathek, Chaima</creator><creator>Mrad, Meriem</creator><creator>Abdessalem, Nadia Ben</creator><creator>Maalej, Afef</creator><creator>Gritli, Nasreddine</creator><creator>Gabsi, Salem</creator><creator>Rannen, Riadh</creator><creator>Fekih-Mrissa, Najiba</creator><general>Copyright YEAR Wolters Kluwer Health, Inc. 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However, there is some controversy as to the role played by this mutation in arterial thrombotic disease. The association of peripheral capillary nonperfusion with prothrombin G20210A mutation has never been reported before. We present the case of 34-year-old man who presented with peripheral capillary nonperfusion. The fundus examination of his right eye revealed an epiretinal membrane, peripheral (mainly temporally) retinal haemorrhages, exudates and microaneurismal alterations of the vascular bed. Fluorescein angiography of his right eye demonstrated an extended area of capillary nonperfusion distal to the microaneurismal lesions. Evaluation revealed mutations of the G20210A prothrombin and MTHFR genes. Screening for hereditary thrombophilia should be considered, regardless of patient age, in patients with peripheral retinal ischemia. The prothrombin G20210A mutation, a genetic risk factor, may be associated with peripheral capillary nonperfusion.</abstract><cop>England</cop><pub>Copyright YEAR Wolters Kluwer Health, Inc. All rights reserved</pub><pmid>26083981</pmid><doi>10.1097/MBC.0000000000000311</doi><tpages>3</tpages></addata></record> |
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| ispartof | Blood coagulation & fibrinolysis, 2015-09, Vol.26 (6), p.682-684 |
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| language | eng |
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| source | MEDLINE; Journals@Ovid Complete |
| subjects | Adult Hemostatics - metabolism Humans Male Methylenetetrahydrofolate Reductase (NADPH2) - genetics Mutation Polymorphism, Genetic Prothrombin - metabolism Risk Factors |
| title | Prothrombin G20210A and methylenetetrahydrofolate reductase C677T polymorphisms in peripheral capillary nonperfusion: a case report |
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