Hyperhomocysteinemia and methylenetetrahydrofolate reductase polymorphism in a patient with coronary artery disease and repetitive miscarriages

Rom J Intern Med. 2012 Oct-Dec;50(4):313-6.

Abstract

We report the case of a woman, aged 53 years, admitted for the assessment of angina; her history revealed 3 unexplained miscarriages, all in the first trimester of pregnancy. Based on clinical manifestations and complementary examinations, the patient was diagnosed with stable angina class functional II, according to The Canadian Cardiovascular Society Classification. The assessment of the risk factors shows a moderate hyperhomocysteinemia, due to methylenetetrahydrofolate reductase polymorphism (MTHFR C677T), abdominal obesity and post-menopausal status. We interpreted hyperhomocysteinemia as the pathologic background explaining both cardiovascular and obstetrical conditions in our case. The patient started the combined therapy with folic acid, vitamin B6 and B12 along with the classical treatment for angina, and, 2 months later, homocysteinemia decreased by 28.6% and the clinical condition improved. There are still controversies regarding the role of homocysteine and its genetic determinant MTHFR C677T polymorphism in different pathologic conditions, including the homocysteine paradox: although effective and inexpensive for hyperhomocysteinemia lowering, the vitamins supplementation has not been proved to reduce significantly the recurrence of cardiovascular events. These interrelations are complex and future studies are required to improve the therapeutical strategy in these cases.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Habitual / genetics*
  • Angina Pectoris / complications*
  • Female
  • Humans
  • Hyperhomocysteinemia / complications*
  • Hyperhomocysteinemia / drug therapy
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Risk Factors

Substances

  • Methylenetetrahydrofolate Reductase (NADPH2)