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  • Title: Methylene tetrahydrofolate reductase gene mutation together with anticardiolipin antibody during pregnancy: a case report.
    Author: Couto E, Barini R, Nomura ML, Annichino-Bizzacchi JM.
    Journal: Sao Paulo Med J; 2002 Sep 02; 120(5):152-3. PubMed ID: 12436152.
    Abstract:
    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. CONTEXTO:: A presença de níveis plasmáticos elevados da homocisteína tem sido associada à ocorrência de trombose arterial e venosa. Uma das causas da elevação da homocisteína plasmática é a presença da mutação C677T no gene da enzima metilenotetrahidrofolato redutase (MTHFR). O anticorpo anticardiolipina (ACA) é associado à ocorrência de trombose e faz parte da síndrome antifosfolípide, juntamente com outras complicações clínicas, como aborto recorrente e óbito fetal. TIPO DE ESTUDO:: Relato de caso. RELATO DE CASO:: Secundigesta, 19 anos, com antecedente de trombose venosa profunda no puerpério anterior. A investigação de fatores trombofílicos revelou a presença do ACAIgM e da mutação homozigota C677Tno gene da MTHFR. Foram administradas 55.000 UI/dia de heparina subcutânea, entre a 15a e a 36a semanas de gestação, quando evoluiu espontaneamente para parto vaginal. O puerpério transcorreu sem intercorrências e a paciente recebeu alta hospitalar no terceiro dia pós-parto, mas sob tratamento com anticoagulante oral.
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