[Gastrointestinal disease with elevated plasma homocysteine level].
Elevated plasma homocystein (tHcy) is a marker for functional deficiency of folate and/or cobalamin. Malabsorption of these vitamins occurs in various gastroenterologic diseases. A frequent mutation (C677T) in the gene coding for the enzyme methyltetrahydrofolate reductase (MTHFR) is often associated with elevated values of tHcy. We have investigated 24 patients with tHcy > 40 mumol/l for gastrointestinal disease that can contribute to such elevation. Of these, 19 were homozygous for mutated MTHFR, four were heterozygous and one was normal. We found two cases of probable celiac disease, one case of Crohn's disease and one case of ulcerative colitis. These four were homozygous for the C667T mutation. Furthermore, we found eight persons who were anacidic; four homozygous, three heterozygous and one normal. All had gastritis histologically, six had serum gastrin > 50 pmol/l, and four were already on treatment with cobalamin injections. Helicobacter pylori-infection was found in nine out of 22 persons. Gastrointestinal disease occurs frequently in patients with tHcy > 40 mumol/l, but with the exception of conditions resulting in serious deficiency of cobalamin, these diseases alone do not seem sufficient to cause such high levels. We suggest that a reasonable approach to patients with homocystein values above 40 mumol/l is to exclude cobalamin deficiency, and that further investigations should be based upon thorough anamnesis and symptoms.
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Medisinsk avdeling, Haukeland Sykehus, Bergen.
Guttormsen
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Berstad
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D015415:Biomarkers / Q000097:blood*; D002446:Celiac Disease / Q000097:blood / Q000235:genetics / Q000473:pathology; D003093:Colitis, Ulcerative / Q000097:blood / Q000235:genetics / Q000473:pathology; D003424:Crohn Disease / Q000097:blood / Q000235:genetics / Q000473:pathology; D005767:Gastrointestinal Diseases / Q000097:blood* / Q000235:genetics / Q000473:pathology; D006579:Heterozygote; D006710:Homocysteine / Q000097:blood* / Q000235:genetics; D006720:Homozygote; D006801:Humans; D009154:Mutation
D015415:Biomarkers; D006710:Homocysteine