title: Celiac sprue, hyperhomocysteinemia, and MTHFR gene variants.
abstract: OBJECTIVE
  To describe the association of untreated celiac disease with hyperhomocysteinemia and variants of the methylenetetrahydrofolicacid reductase (MTHFR) gene found in clinical practice.
  
  
  METHODS
  Case studies with description of associated clinical, biochemical, and genetic findings and review of literature.
  
  
  RESULTS
  Five new cases and 7 additional cases found from literature search of hyperhomocysteinemia with celiac sprue are reported. Treatment with gluten-free diet and folic acid led to the variable improvement in homocysteine levels. MTHFR gene variants were present in the each of the new patients described.
  
  
  CONCLUSIONS
  Untreated celiac disease may be associated with hyperhomocysteinemia caused by a combination of vitamin deficiencies and variants in the MTHFR gene. Abnormalities do not consistently improve with gluten-free diet. The abnormal findings could result from vitamin deficiencies or variant MTHFR status. Possible clinical implications for patients with celiac disease and hyperhomocysteinemia are reviewed.
authors.affiliation: Department of Medicine, Division of Gastroenterology, Maine Medical Center, 22 Bramhall Street, Portland, ME 04102, USA. gwilcox1@maine.rr.com
authors.forename: Gilbert M
authors.initials: GM
authors.lastname: Wilcox
authors.forename: Anthony R
authors.initials: AR
authors.lastname: Mattia
mesh_terms: D000368:Aged; D002446:Celiac Disease / Q000097:blood / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D015897:Comorbidity; D004386:Duodenum / Q000473:pathology; D005260:Female; D006801:Humans; D020138:Hyperhomocysteinemia / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)