Can methyl-tetrahydrofolat reductase (MTHFR) homozygotism cause obscure gastrointestinal bleeding? A case report

Introduction: Role of the wireless capsule endoscopy is increasing in the evaluation of patients with obscure gastrointestianl bleeding.

Case: A 28 years old woman was referred to our department because of gastrointestinal bleeding. In her history several attacks of bleeding occurred since her childhood, but the source of the hemorrhage was not previously found. Neither repeated upper panendoscopies, nor enteroscopies, colonoscopies, or selective arteria mesenterica angiography performed during the massive bleeding could reveal the site and origin of the bleeding. The Tc-labelled red blood cell scintigraphy was also negative. The CT-enteroclysis showed no evidence for the site of the bleeding or any other intestinal abnormalities, for example Crohn's diseases. Conservative treatment was applied and the bleeding has stopped. The patient received 4 Unit of transfusions in this last period. Finally, the capsule endoscopy was performed. It revealed several small ulcerations in the jejunum and in the ileum. The hematological evaluation confirmed MTHFR-homozygotism. Now, we administer folate pills to the patient, and up to now no other bleeding has occurred. We think that this alteration of folate metabolism can cause microthrombosis in the capillaries of the epithelium in the bowel, which can subsequently bleed. Long term follow up could confirm our hypothesis.