Gilbert M Wilcox1, Anthony R Mattia. 1. Department of Medicine, Division of Gastroenterology, Maine Medical Center, 22 Bramhall Street, Portland, ME 04102, USA. gwilcox1@maine.rr.com
Abstract
GOALS: To describe the association of untreated celiac disease with hyperhomocysteinemia and variants of the methylenetetrahydrofolicacid reductase (MTHFR) gene found in clinical practice. STUDY: 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.
GOALS: To describe the association of untreated celiac disease with hyperhomocysteinemia and variants of the methylenetetrahydrofolicacid reductase (MTHFR) gene found in clinical practice. STUDY: 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: Giovanni Casella; Gabrio Bassotti; Vincenzo Villanacci; Camillo Di Bella; Fabio Pagni; Gian Luigi Corti; Giuseppe Sabatino; Mara Piatti; Vittorio Baldini Journal: World J Gastroenterol Date: 2011-06-28 Impact factor: 5.742
Authors: Muhammed Hadithi; Chris J J Mulder; Frank Stam; Joshan Azizi; J Bart A Crusius; Amado Salvador Peña; Coen D A Stehouwer; Yvo M Smulders Journal: World J Gastroenterol Date: 2009-02-28 Impact factor: 5.742