Homocysteine screening of a female Hispanic population

A total of 821 women of Hispanic descent aged 21-65 years, were screened fo r total and high density lipoprotein (HDL) cholesterol through outpatient c linics and public screening. Of this group, 78 were invited back for furthe r testing because they had a total cholesterol/HDL cholesterol ratio exceed ing 4.5 indicative of high risk for cardiovascular disease. Written consent and a fasting blood sample was obtained from these women, and tested for s erum homocysteine. The concentrations for 77 of the 78 women (mean 8.40+/-2 .24, range 4.21-13.99 mu mol/l) were within the preestablished normal range for women. One subject had an exceptionally high homocysteine concentratio n of 137 mu mol/l. This subject subsequently developed a stroke and has bee n institutionalized since that time. Blood from the subject and immediate f amily members were tested for the 5'-10'-methylenetetrahydrofolate reductas e (MTHFR) polymorphism. The subject and her children were both hyperhomocys teinemic 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 deficien cy of the vitamins, the MTHFR mutation may have also been a contributing fa ctor. With the availability of rapid assays, screening blood for homocystei ne in subjects deemed at high risk for cardiovascular disease may be justif ied.