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[Gastrointestinal disease with elevated plasma homocysteine level]
P Coll1, A B Guttormsen, A Berstad
1Medisinsk avdeling, Haukeland Sykehus, Bergen.
Summary
Elevated homocysteine (tHcy) indicates folate or cobalamin deficiency. Gastrointestinal diseases and MTHFR mutations are common in patients with high tHcy, but cobalamin deficiency should be ruled out first.
Area of Science:
- Biochemistry
- Genetics
- Gastroenterology
Context:
- Elevated plasma homocysteine (tHcy) is a recognized indicator of functional folate and/or cobalamin deficiency.
- Malabsorption of these essential vitamins is frequently observed in various gastroenterologic conditions.
- A common mutation (C677T) in the methyltetrahydrofolate reductase (MTHFR) gene is often linked to elevated tHcy levels.
Purpose:
- To investigate the prevalence of gastrointestinal diseases in patients presenting with significantly elevated plasma homocysteine (tHcy) levels (> 40 mumol/l).
- To explore the association between specific gastrointestinal conditions, MTHFR gene mutations, and high tHcy values.
- To determine the most effective diagnostic approach for patients with hyperhomocysteinemia.
Summary:
- The study examined 24 patients with tHcy > 40 mumol/l, finding a high prevalence of MTHFR C677T mutations (19 homozygous, 4 heterozygous).
- Gastrointestinal diseases including celiac disease, Crohn's disease, ulcerative colitis, and gastritis (associated with anacidity and H. pylori infection) were identified in several patients.
- Despite the presence of these conditions, the findings suggest that gastrointestinal diseases alone are insufficient to cause such extreme tHcy levels, except in cases of severe cobalamin deficiency.
Impact:
- Highlights the frequent co-occurrence of gastrointestinal disorders and elevated homocysteine levels.
- Emphasizes the importance of considering MTHFR gene mutations in the context of hyperhomocysteinemia.
- Recommends prioritizing the exclusion of cobalamin deficiency in the diagnostic workup for patients with tHcy > 40 mumol/l, followed by detailed clinical evaluation.