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Published on: May 17, 2024
[Homocysteine and cardiovascular disease]
1H:S Rigshospitalet, klinisk genetisk afdeling.
Insights
High homocysteine levels in rare metabolic disorders reduce vascular thrombosis risk. Measuring homocysteine aids screening for unexplained vascular events and potential inborn errors of metabolism.
Area of Science:
- Biochemistry
- Cardiovascular Medicine
- Genetics
Context:
- Elevated plasma homocysteine is linked to vascular thromboses, particularly in rare inborn errors of metabolism.
- Epidemiological studies suggest a correlation between moderately increased homocysteine and ischemic cardiovascular disease.
- Folic acid and other vitamin supplements can lower plasma homocysteine levels.
Purpose:
- To evaluate the role of plasma homocysteine in vascular thrombosis risk.
- To determine the utility of homocysteine measurement in clinical screening.
- To investigate the association between homocysteine and cardiovascular disease incidence.
Summary:
- Treatment of severe hyperhomocysteinemia in metabolic disorders decreases vascular thrombosis risk.
- Ongoing studies are assessing the impact of folic acid and vitamins on cardiovascular disease incidence.
- Plasma homocysteine measurement is recommended for patients with unexplained or recurrent vascular thromboses.
Impact:
- Supports the screening of patients with early or frequent vascular thromboses and atypical risk factors.
- Identifies patients requiring investigation for inborn errors of metabolism when homocysteine exceeds 30 mumol/l.
- Informs clinical practice regarding homocysteine assessment and its implications for cardiovascular health.
Abstract:
Treatment of highly increased plasma concentrations of homocysteine in patients with rare inborn errors of metabolism reduces their risk of vascular thromboses. Many, but not all, epidemiological studies show a relation between slightly increased plasma homocysteine and ischaemic cardiovascular disease. Folic acid supplements reduce plasma homocysteine. The results of ongoing studies of the effect of folic acid and other vitamins on the incidence of cardiovascular disease are expected within the next five years. The available data support the measurement of plasma homocysteine as a part of screening of patients with early and/or frequent vascular thromboses and a disparity between established risk factors and symptoms. Plasma homocysteine > 30 mumol/l in such patients should prompt a search for an inborn error of metabolism.
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