Hyperhomocysteinaemia in a coeliac disease heterozygote for the two common mutations (677C->T and 1298A->C) of the methylenetetrahydrofolate reductase gene. Case report

A 17 year old girl with coeliac disease was found to have hyperhomocysteinaemia (fasting plasma total homocysteine concentration - 19.93 micromol/L; N<12.75 micromol/L). At the age of 1 5 she gave up gluten-free diet and had only subtle signs of chronic malabsorption such as folic acid and iron deficiency. The patient was heterozygote for both common mutations (677C->T and J298A->C) of the methylenetetrahydrofolate reductase gene. On gluten diet an intake of 5 mg folic acid/d from supplements for two weeks resulted in an increase in serum folate and a reduction in homocysteine concentration (13.20 micromol/L). The patient continued to consume a gluten containing diet and 0.5mg folic acid/d from supplements for 4 months and homocysteiene decreased to 12.1 mmol/L. Hyperhomocysteinaemia - a cardiovascular and obstetrical risk factor - might be a significant problem for patients with celiac disease on gluten-containing diet.