Methylene tetrahydrofolate reductase gene mutation together with anticardiolipin antibody during pregnancy: a case report

Detalhes bibliográficos
Autor(a) principal: Couto,Egle
Data de Publicação: 2002
Outros Autores: Barini,Ricardo, Nomura,Marcelo Luís, Annichino-Bizzacchi,Joyce Maria
Tipo de documento: Relatório
Idioma: eng
Título da fonte: São Paulo medical journal (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802002000500006
Resumo: CONTEXT: High plasmatic homocysteine levels have been associated with arterial and venous thrombosis. The C677T methylene tetrahydrofolate reductase (MTHFR) gene mutation is one of the known causes for high homocysteine levels in plasma. Anticardiolipin antibody (ACA) is also associated with thrombosis and, along with other clinical complications such as recurrent abortion and stillbirth, is part of the antiphospholipid syndrome. DESIGN: Case report. CASE REPORT: A 19-year-old woman with two gestations and one parity (G2P1) had exhibited deep venous thrombosis in her previous puerperal period. Investigation of thrombophilic factors revealed ACA-IgM and heterozygous C677T mutation in the MTHFR gene. Lupus anticoagulant, protein C, protein S and antithrombin III deficiencies, and Leiden factor V and the G20210A mutation in the prothrombin gene, were not detected. The patient received 55,000 IU of subcutaneous heparin daily, from the 15th to the 36th week of pregnancy, when vaginal delivery took place. There were no clinical complications during the puerperal period and she was discharged three days after delivery, while still using oral anticoagulants.
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spelling Methylene tetrahydrofolate reductase gene mutation together with anticardiolipin antibody during pregnancy: a case reportAnticardiolipin antibodiesTetrahydrofolateReductaseThrombosisAntiphospholipid syndromeCONTEXT: High plasmatic homocysteine levels have been associated with arterial and venous thrombosis. The C677T methylene tetrahydrofolate reductase (MTHFR) gene mutation is one of the known causes for high homocysteine levels in plasma. Anticardiolipin antibody (ACA) is also associated with thrombosis and, along with other clinical complications such as recurrent abortion and stillbirth, is part of the antiphospholipid syndrome. DESIGN: Case report. CASE REPORT: A 19-year-old woman with two gestations and one parity (G2P1) had exhibited deep venous thrombosis in her previous puerperal period. Investigation of thrombophilic factors revealed ACA-IgM and heterozygous C677T mutation in the MTHFR gene. Lupus anticoagulant, protein C, protein S and antithrombin III deficiencies, and Leiden factor V and the G20210A mutation in the prothrombin gene, were not detected. The patient received 55,000 IU of subcutaneous heparin daily, from the 15th to the 36th week of pregnancy, when vaginal delivery took place. There were no clinical complications during the puerperal period and she was discharged three days after delivery, while still using oral anticoagulants.Associação Paulista de Medicina - APM2002-07-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802002000500006Sao Paulo Medical Journal v.120 n.5 2002reponame:São Paulo medical journal (Online)instname:Associação Paulista de Medicinainstacron:APM10.1590/S1516-31802002000500006info:eu-repo/semantics/openAccessCouto,EgleBarini,RicardoNomura,Marcelo LuísAnnichino-Bizzacchi,Joyce Mariaeng2002-11-11T00:00:00Zoai:scielo:S1516-31802002000500006Revistahttp://www.scielo.br/spmjhttps://old.scielo.br/oai/scielo-oai.phprevistas@apm.org.br1806-94601516-3180opendoar:2002-11-11T00:00São Paulo medical journal (Online) - Associação Paulista de Medicinafalse
dc.title.none.fl_str_mv Methylene tetrahydrofolate reductase gene mutation together with anticardiolipin antibody during pregnancy: a case report
title Methylene tetrahydrofolate reductase gene mutation together with anticardiolipin antibody during pregnancy: a case report
spellingShingle Methylene tetrahydrofolate reductase gene mutation together with anticardiolipin antibody during pregnancy: a case report
Couto,Egle
Anticardiolipin antibodies
Tetrahydrofolate
Reductase
Thrombosis
Antiphospholipid syndrome
title_short Methylene tetrahydrofolate reductase gene mutation together with anticardiolipin antibody during pregnancy: a case report
title_full Methylene tetrahydrofolate reductase gene mutation together with anticardiolipin antibody during pregnancy: a case report
title_fullStr Methylene tetrahydrofolate reductase gene mutation together with anticardiolipin antibody during pregnancy: a case report
title_full_unstemmed Methylene tetrahydrofolate reductase gene mutation together with anticardiolipin antibody during pregnancy: a case report
title_sort Methylene tetrahydrofolate reductase gene mutation together with anticardiolipin antibody during pregnancy: a case report
author Couto,Egle
author_facet Couto,Egle
Barini,Ricardo
Nomura,Marcelo Luís
Annichino-Bizzacchi,Joyce Maria
author_role author
author2 Barini,Ricardo
Nomura,Marcelo Luís
Annichino-Bizzacchi,Joyce Maria
author2_role author
author
author
dc.contributor.author.fl_str_mv Couto,Egle
Barini,Ricardo
Nomura,Marcelo Luís
Annichino-Bizzacchi,Joyce Maria
dc.subject.por.fl_str_mv Anticardiolipin antibodies
Tetrahydrofolate
Reductase
Thrombosis
Antiphospholipid syndrome
topic Anticardiolipin antibodies
Tetrahydrofolate
Reductase
Thrombosis
Antiphospholipid syndrome
description CONTEXT: High plasmatic homocysteine levels have been associated with arterial and venous thrombosis. The C677T methylene tetrahydrofolate reductase (MTHFR) gene mutation is one of the known causes for high homocysteine levels in plasma. Anticardiolipin antibody (ACA) is also associated with thrombosis and, along with other clinical complications such as recurrent abortion and stillbirth, is part of the antiphospholipid syndrome. DESIGN: Case report. CASE REPORT: A 19-year-old woman with two gestations and one parity (G2P1) had exhibited deep venous thrombosis in her previous puerperal period. Investigation of thrombophilic factors revealed ACA-IgM and heterozygous C677T mutation in the MTHFR gene. Lupus anticoagulant, protein C, protein S and antithrombin III deficiencies, and Leiden factor V and the G20210A mutation in the prothrombin gene, were not detected. The patient received 55,000 IU of subcutaneous heparin daily, from the 15th to the 36th week of pregnancy, when vaginal delivery took place. There were no clinical complications during the puerperal period and she was discharged three days after delivery, while still using oral anticoagulants.
publishDate 2002
dc.date.none.fl_str_mv 2002-07-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802002000500006
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802002000500006
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1516-31802002000500006
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.publisher.none.fl_str_mv Associação Paulista de Medicina - APM
publisher.none.fl_str_mv Associação Paulista de Medicina - APM
dc.source.none.fl_str_mv Sao Paulo Medical Journal v.120 n.5 2002
reponame:São Paulo medical journal (Online)
instname:Associação Paulista de Medicina
instacron:APM
instname_str Associação Paulista de Medicina
instacron_str APM
institution APM
reponame_str São Paulo medical journal (Online)
collection São Paulo medical journal (Online)
repository.name.fl_str_mv São Paulo medical journal (Online) - Associação Paulista de Medicina
repository.mail.fl_str_mv revistas@apm.org.br
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