Impact of environmental and hereditary risk factors on the clinical manifestation of thrombophilia in homozygous carriers of factor V:G1691A
Background: Limited data exist on the clinical manifestations of homozygous factor (F)V:G1691A mutation (FV Leiden) and the impact of environmental and genetic risk factors. Objectives: To assess the contribution of these factors on the thrombophilic phenotype. Patients and methods: In a retrospecti...
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| Veröffentlicht in: | Journal of thrombosis and haemostasis 2004-03, Vol.2 (3), p.430-436 |
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| creator | Ehrenforth, S. Nemes, L. Mannhalter, C. Rosendaal, F. R. Koder, S. Zoghlami‐Rintelen, C. Scharrer, I. Pabinger, I. |
| description | Background: Limited data exist on the clinical manifestations of homozygous factor (F)V:G1691A mutation (FV Leiden) and the impact of environmental and genetic risk factors. Objectives: To assess the contribution of these factors on the thrombophilic phenotype. Patients and methods: In a retrospective multicenter cohort study 165 individuals with homozygous FV:G1691A mutation, of whom 129 had previous venous thromboembolism (VTE), were included. To study the role of environmental risk factors, patients were compared by the use of a standardized questionnaire to 165 sex‐ and age‐matched individuals (reference group A); of these, two had previous VTE. To assess the role of genetic risk factors, factor (F)II:G20210A and MTHFR:C677T were determined in individuals homozygous for FV:G1691A and in 177 healthy individuals without previous VTE (reference group B). Results: The first VTE occurred significantly earlier in women (median age 25 years) than men (35.5 years). In 81% of women and 29% of men an environmental risk factor was present before first VTE. Oral contraceptives increased the risk of thrombosis 4‐fold [odds ratio (OR) 4.0, 95% confidence interval (CI) 1.7, 10.4] in women with homozygous FV:G1691A. Postoperative and post‐traumatic VTE as first manifestation occurred in 13% and 15% of surgical/traumatic events in patients and in 0.7% and 1.8% in reference group A, respectively (OR 19.7, 95% CI 2.5, 154 and OR 9.2, 95% CI 1.1, 79.4). Heterozygous FII:G20210A was more prevalent in symptomatic patients (11.7%) compared with reference group B (2.8%, OR 4.6, 95% CI 1.6, 13.2). The prevalence of homozygous MTHFR:C677T genotype was similar in patients and reference group B. Conclusions: Our study supports the concept of thrombophilia as a multifactorial disorder. The knowledge of coexisting factors predisposing to VTE is useful for medical advice for primary and secondary prophylaxis in these patients. |
| doi_str_mv | 10.1111/j.1538-7836.2004.00606.x |
| format | Article |
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R. ; Koder, S. ; Zoghlami‐Rintelen, C. ; Scharrer, I. ; Pabinger, I.</creator><creatorcontrib>Ehrenforth, S. ; Nemes, L. ; Mannhalter, C. ; Rosendaal, F. R. ; Koder, S. ; Zoghlami‐Rintelen, C. ; Scharrer, I. ; Pabinger, I.</creatorcontrib><description>Background: Limited data exist on the clinical manifestations of homozygous factor (F)V:G1691A mutation (FV Leiden) and the impact of environmental and genetic risk factors. Objectives: To assess the contribution of these factors on the thrombophilic phenotype. Patients and methods: In a retrospective multicenter cohort study 165 individuals with homozygous FV:G1691A mutation, of whom 129 had previous venous thromboembolism (VTE), were included. To study the role of environmental risk factors, patients were compared by the use of a standardized questionnaire to 165 sex‐ and age‐matched individuals (reference group A); of these, two had previous VTE. To assess the role of genetic risk factors, factor (F)II:G20210A and MTHFR:C677T were determined in individuals homozygous for FV:G1691A and in 177 healthy individuals without previous VTE (reference group B). Results: The first VTE occurred significantly earlier in women (median age 25 years) than men (35.5 years). In 81% of women and 29% of men an environmental risk factor was present before first VTE. Oral contraceptives increased the risk of thrombosis 4‐fold [odds ratio (OR) 4.0, 95% confidence interval (CI) 1.7, 10.4] in women with homozygous FV:G1691A. Postoperative and post‐traumatic VTE as first manifestation occurred in 13% and 15% of surgical/traumatic events in patients and in 0.7% and 1.8% in reference group A, respectively (OR 19.7, 95% CI 2.5, 154 and OR 9.2, 95% CI 1.1, 79.4). Heterozygous FII:G20210A was more prevalent in symptomatic patients (11.7%) compared with reference group B (2.8%, OR 4.6, 95% CI 1.6, 13.2). The prevalence of homozygous MTHFR:C677T genotype was similar in patients and reference group B. Conclusions: Our study supports the concept of thrombophilia as a multifactorial disorder. The knowledge of coexisting factors predisposing to VTE is useful for medical advice for primary and secondary prophylaxis in these patients.</description><identifier>ISSN: 1538-7933</identifier><identifier>ISSN: 1538-7836</identifier><identifier>EISSN: 1538-7836</identifier><identifier>DOI: 10.1111/j.1538-7836.2004.00606.x</identifier><identifier>PMID: 15009459</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Science Inc</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Environment ; Europe ; Factor V - genetics ; factor V Leiden ; Female ; Genetic Carrier Screening ; Homozygote ; homozygous factor V:G1691A ; Humans ; Middle Aged ; oral contraceptives ; Point Mutation - genetics ; prothrombin G20210A variation ; Risk Factors ; Thromboembolism - genetics ; thrombophilia ; Thrombophilia - epidemiology ; Thrombophilia - genetics ; venous thrombosis</subject><ispartof>Journal of thrombosis and haemostasis, 2004-03, Vol.2 (3), p.430-436</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4146-d1f6157edd7be94d9d0ef2300c05851d4541f154e49d5d44c04cb163e814b40b3</citedby><cites>FETCH-LOGICAL-c4146-d1f6157edd7be94d9d0ef2300c05851d4541f154e49d5d44c04cb163e814b40b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15009459$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ehrenforth, S.</creatorcontrib><creatorcontrib>Nemes, L.</creatorcontrib><creatorcontrib>Mannhalter, C.</creatorcontrib><creatorcontrib>Rosendaal, F. R.</creatorcontrib><creatorcontrib>Koder, S.</creatorcontrib><creatorcontrib>Zoghlami‐Rintelen, C.</creatorcontrib><creatorcontrib>Scharrer, I.</creatorcontrib><creatorcontrib>Pabinger, I.</creatorcontrib><title>Impact of environmental and hereditary risk factors on the clinical manifestation of thrombophilia in homozygous carriers of factor V:G1691A</title><title>Journal of thrombosis and haemostasis</title><addtitle>J Thromb Haemost</addtitle><description>Background: Limited data exist on the clinical manifestations of homozygous factor (F)V:G1691A mutation (FV Leiden) and the impact of environmental and genetic risk factors. Objectives: To assess the contribution of these factors on the thrombophilic phenotype. Patients and methods: In a retrospective multicenter cohort study 165 individuals with homozygous FV:G1691A mutation, of whom 129 had previous venous thromboembolism (VTE), were included. To study the role of environmental risk factors, patients were compared by the use of a standardized questionnaire to 165 sex‐ and age‐matched individuals (reference group A); of these, two had previous VTE. To assess the role of genetic risk factors, factor (F)II:G20210A and MTHFR:C677T were determined in individuals homozygous for FV:G1691A and in 177 healthy individuals without previous VTE (reference group B). Results: The first VTE occurred significantly earlier in women (median age 25 years) than men (35.5 years). In 81% of women and 29% of men an environmental risk factor was present before first VTE. Oral contraceptives increased the risk of thrombosis 4‐fold [odds ratio (OR) 4.0, 95% confidence interval (CI) 1.7, 10.4] in women with homozygous FV:G1691A. Postoperative and post‐traumatic VTE as first manifestation occurred in 13% and 15% of surgical/traumatic events in patients and in 0.7% and 1.8% in reference group A, respectively (OR 19.7, 95% CI 2.5, 154 and OR 9.2, 95% CI 1.1, 79.4). Heterozygous FII:G20210A was more prevalent in symptomatic patients (11.7%) compared with reference group B (2.8%, OR 4.6, 95% CI 1.6, 13.2). The prevalence of homozygous MTHFR:C677T genotype was similar in patients and reference group B. Conclusions: Our study supports the concept of thrombophilia as a multifactorial disorder. The knowledge of coexisting factors predisposing to VTE is useful for medical advice for primary and secondary prophylaxis in these patients.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Child</subject><subject>Environment</subject><subject>Europe</subject><subject>Factor V - genetics</subject><subject>factor V Leiden</subject><subject>Female</subject><subject>Genetic Carrier Screening</subject><subject>Homozygote</subject><subject>homozygous factor V:G1691A</subject><subject>Humans</subject><subject>Middle Aged</subject><subject>oral contraceptives</subject><subject>Point Mutation - genetics</subject><subject>prothrombin G20210A variation</subject><subject>Risk Factors</subject><subject>Thromboembolism - genetics</subject><subject>thrombophilia</subject><subject>Thrombophilia - epidemiology</subject><subject>Thrombophilia - genetics</subject><subject>venous thrombosis</subject><issn>1538-7933</issn><issn>1538-7836</issn><issn>1538-7836</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU1v1DAQhi0EoqXwF5BP3DbMJHY-EJeqgraoUi9tr5bjD-IlsRc7W7r8hv7oOuxCr_jikeaZd0bvSwhFKDC_j-sCedWumraqixKAFQA11MXDC3L8r_Hyb91V1RF5k9IaADtewmtyhBygY7w7Jo-X00aqmQZLjb93MfjJ-FmOVHpNBxONdrOMOxpd-kFtJkNMNHg6D4aq0XmnMjtJ76xJs5xdbmWpeYhh6sNmcKOT1Hk6hCn83n0P20SVjNGZRcUeBOndp3OsOzx9S15ZOSbz7vCfkNuvX27OLlZX1-eXZ6dXK8WQ1SuNtkbeGK2b3nRMdxqMLSsABbzlqBlnaJEzwzrNNWMKmOqxrkyLrGfQVyfkw153E8PPbT5cTC4pM47Sm3yiaLDBuizbDLZ7UMWQUjRWbKKbsh8CQSxJiLVYTBaL4WJJQvxJQjzk0feHHdt-Mvp58GB9Bj7vgV9uNLv_Fhbfbi5yUT0BaGmZCw</recordid><startdate>200403</startdate><enddate>200403</enddate><creator>Ehrenforth, S.</creator><creator>Nemes, L.</creator><creator>Mannhalter, C.</creator><creator>Rosendaal, F. R.</creator><creator>Koder, S.</creator><creator>Zoghlami‐Rintelen, C.</creator><creator>Scharrer, I.</creator><creator>Pabinger, I.</creator><general>Blackwell Science Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200403</creationdate><title>Impact of environmental and hereditary risk factors on the clinical manifestation of thrombophilia in homozygous carriers of factor V:G1691A</title><author>Ehrenforth, S. ; Nemes, L. ; Mannhalter, C. ; Rosendaal, F. R. ; Koder, S. ; Zoghlami‐Rintelen, C. ; Scharrer, I. ; Pabinger, I.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4146-d1f6157edd7be94d9d0ef2300c05851d4541f154e49d5d44c04cb163e814b40b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Child</topic><topic>Environment</topic><topic>Europe</topic><topic>Factor V - genetics</topic><topic>factor V Leiden</topic><topic>Female</topic><topic>Genetic Carrier Screening</topic><topic>Homozygote</topic><topic>homozygous factor V:G1691A</topic><topic>Humans</topic><topic>Middle Aged</topic><topic>oral contraceptives</topic><topic>Point Mutation - genetics</topic><topic>prothrombin G20210A variation</topic><topic>Risk Factors</topic><topic>Thromboembolism - genetics</topic><topic>thrombophilia</topic><topic>Thrombophilia - epidemiology</topic><topic>Thrombophilia - genetics</topic><topic>venous thrombosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ehrenforth, S.</creatorcontrib><creatorcontrib>Nemes, L.</creatorcontrib><creatorcontrib>Mannhalter, C.</creatorcontrib><creatorcontrib>Rosendaal, F. R.</creatorcontrib><creatorcontrib>Koder, S.</creatorcontrib><creatorcontrib>Zoghlami‐Rintelen, C.</creatorcontrib><creatorcontrib>Scharrer, I.</creatorcontrib><creatorcontrib>Pabinger, I.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of thrombosis and haemostasis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ehrenforth, S.</au><au>Nemes, L.</au><au>Mannhalter, C.</au><au>Rosendaal, F. R.</au><au>Koder, S.</au><au>Zoghlami‐Rintelen, C.</au><au>Scharrer, I.</au><au>Pabinger, I.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Impact of environmental and hereditary risk factors on the clinical manifestation of thrombophilia in homozygous carriers of factor V:G1691A</atitle><jtitle>Journal of thrombosis and haemostasis</jtitle><addtitle>J Thromb Haemost</addtitle><date>2004-03</date><risdate>2004</risdate><volume>2</volume><issue>3</issue><spage>430</spage><epage>436</epage><pages>430-436</pages><issn>1538-7933</issn><issn>1538-7836</issn><eissn>1538-7836</eissn><abstract>Background: Limited data exist on the clinical manifestations of homozygous factor (F)V:G1691A mutation (FV Leiden) and the impact of environmental and genetic risk factors. Objectives: To assess the contribution of these factors on the thrombophilic phenotype. Patients and methods: In a retrospective multicenter cohort study 165 individuals with homozygous FV:G1691A mutation, of whom 129 had previous venous thromboembolism (VTE), were included. To study the role of environmental risk factors, patients were compared by the use of a standardized questionnaire to 165 sex‐ and age‐matched individuals (reference group A); of these, two had previous VTE. To assess the role of genetic risk factors, factor (F)II:G20210A and MTHFR:C677T were determined in individuals homozygous for FV:G1691A and in 177 healthy individuals without previous VTE (reference group B). Results: The first VTE occurred significantly earlier in women (median age 25 years) than men (35.5 years). In 81% of women and 29% of men an environmental risk factor was present before first VTE. Oral contraceptives increased the risk of thrombosis 4‐fold [odds ratio (OR) 4.0, 95% confidence interval (CI) 1.7, 10.4] in women with homozygous FV:G1691A. Postoperative and post‐traumatic VTE as first manifestation occurred in 13% and 15% of surgical/traumatic events in patients and in 0.7% and 1.8% in reference group A, respectively (OR 19.7, 95% CI 2.5, 154 and OR 9.2, 95% CI 1.1, 79.4). Heterozygous FII:G20210A was more prevalent in symptomatic patients (11.7%) compared with reference group B (2.8%, OR 4.6, 95% CI 1.6, 13.2). The prevalence of homozygous MTHFR:C677T genotype was similar in patients and reference group B. Conclusions: Our study supports the concept of thrombophilia as a multifactorial disorder. The knowledge of coexisting factors predisposing to VTE is useful for medical advice for primary and secondary prophylaxis in these patients.</abstract><cop>Oxford, UK</cop><pub>Blackwell Science Inc</pub><pmid>15009459</pmid><doi>10.1111/j.1538-7836.2004.00606.x</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Aged Aged, 80 and over Child Environment Europe Factor V - genetics factor V Leiden Female Genetic Carrier Screening Homozygote homozygous factor V:G1691A Humans Middle Aged oral contraceptives Point Mutation - genetics prothrombin G20210A variation Risk Factors Thromboembolism - genetics thrombophilia Thrombophilia - epidemiology Thrombophilia - genetics venous thrombosis |
| title | Impact of environmental and hereditary risk factors on the clinical manifestation of thrombophilia in homozygous carriers of factor V:G1691A |
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