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[Familial hyperhomocysteinemia with early development of atherosclerosis]
T B Domagała1, M Libura, H Gozdecka
1II Katedry Chorób Wewnetrznych Collegium Medicum UJ w Krakowie.
Insights
This study identifies hyperhomocysteinemia in a Polish family, linked to early coronary disease. Folic acid and vitamin B12 treatment effectively lowered homocysteine levels.
Area of Science:
- Genetics and Cardiovascular Medicine
- Metabolic Disorders Research
Background:
- Hyperhomocysteinemia is a risk factor for cardiovascular disease.
- Familial hyperhomocysteinemia can lead to early-onset coronary complaints and myocardial infarction.
Observation:
- A large Polish family spanning 4 generations exhibited hyperhomocysteinemia.
- The proband experienced coronary issues at age 20 and myocardial infarction by 50.
- Affected individuals showed elevated plasma homocysteine levels, with some displaying abnormalities during methionine loading tests.
Findings:
- Two daughters of the proband were diagnosed with hyperhomocysteinemia.
- Enzyme levels for cystathionine beta-synthase and methylenetetrahydrofolate reductase were normal.
- Treatment with folic acid and vitamin B12 significantly reduced plasma homocysteine levels.
Implications:
- This is the first reported family with hyperhomocysteinemia in Poland.
- Early detection and intervention with B vitamins can manage hyperhomocysteinemia and mitigate cardiovascular risks.
- Understanding genetic predispositions to hyperhomocysteinemia is crucial for preventative cardiology.
Abstract:
We describe a large family with hyperhomocysteinemia, the first to be reported in Poland. The proband's coronary complaints appeared at the age of 20, and by the age of 50 he had suffered extensive myocardial infarction. Examination of 17 persons from 4 generations revealed hyperhomocysteinemia in 2 daughters of the proband, while more discrete abnormalities were detected during methionine loading test in two other persons. Levels of cystathionone beta-syntetase and methyleno-FH4 reductase were normal in skin fibroblast culture. Treatment with folic acid and vitamin B12 led to 5-fold depression of plasma homocysteine in the proband, and complete normalization in the other treated member of the family.