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Homocysteine screening of a female Hispanic population
A H Wu1, V Holtman, G J Tsongalis
1Department of Pathology and Laboratory Medicine, Hartford Hospital, Hartford, CT 06102, USA.
Insights
Elevated homocysteine levels, a risk factor for cardiovascular disease, were identified in a Hispanic women cohort. Genetic factors like MTHFR mutation and vitamin deficiencies may contribute to this risk.
Area of Science:
- Cardiovascular Health
- Nutritional Biochemistry
- Medical Genetics
Background:
- High homocysteine levels are associated with increased cardiovascular disease (CVD) risk.
- Screening for CVD risk factors in diverse populations is crucial for early intervention.
- The role of MTHFR polymorphism and vitamin deficiencies in hyperhomocysteinemia requires further investigation.
Purpose of the Study:
- To assess homocysteine levels in Hispanic women at high risk for CVD.
- To investigate potential genetic and nutritional factors contributing to elevated homocysteine.
- To evaluate the clinical utility of homocysteine screening in high-risk individuals.
Main Methods:
- Screening of 821 Hispanic women for total and HDL cholesterol.
- Further testing for serum homocysteine in 78 women with a high cholesterol/HDL ratio.
- Genetic analysis for MTHFR polymorphism and assessment of vitamin B12 levels in a case subject and family.
Main Results:
- One subject exhibited markedly elevated homocysteine (137 micromol/l), leading to stroke and institutionalization.
- This subject and her children were heterozygous for the MTHFR mutation and hyperhomocysteinemic.
- A low vitamin B12 concentration was noted in one affected child, suggesting a multifactorial etiology.
Conclusions:
- Homocysteine screening may be beneficial for identifying individuals at high risk for cardiovascular events.
- MTHFR polymorphism and nutritional deficiencies (e.g., vitamin B12) can contribute to hyperhomocysteinemia and CVD risk.
- Early detection and management of hyperhomocysteinemia are vital for preventing severe cardiovascular outcomes.
Abstract:
A total of 821 women of Hispanic descent aged 21-65 years, were screened for total and high density lipoprotein (HDL) cholesterol through outpatient clinics and public screening. Of this group, 78 were invited back for further testing because they had a total cholesterol/HDL cholesterol ratio exceeding 4.5 indicative of high risk for cardiovascular disease. Written consent and a fasting blood sample was obtained from these women, and tested for serum homocysteine. The concentrations for 77 of the 78 women (mean 8. 40+/-2.24, range 4.21-13.99 micromol/l) were within the pre-established normal range for women. One subject had an exceptionally high homocysteine concentration of 137 micromol/l. This subject subsequently developed a stroke and has been institutionalized since that time. Blood from the subject and immediate family members were tested for the 5'-10'-methylenetetrahydrofolate reductase (MTHFR) polymorphism. The subject and her children were both hyperhomocysteinemic and heterozygous for the mutation. One of the children also had a low vitamin B12 concentration in blood. Although the high homocysteine and cardiovascular risk in these subjects were likely due to a dietary deficiency of the vitamins, the MTHFR mutation may have also been a contributing factor. With the availability of rapid assays, screening blood for homocysteine in subjects deemed at high risk for cardiovascular disease may be justified.