Genetic Test for Hormone Replacement Therapy

Some women are genetically predisposed to respond better to hormone replacement therapy (HRT), according to a study conducted by Dr. David Herrington of Wake Forest University Baptist Medical Center (Winston-Salem NC, USA). The study was reported in the March 28, 2002, issue of The New England Journal of Medicine.

This means a genetic test may soon help doctors decide whether post-menopausal patients will benefit from HRT for prevention of heart disease. The decision to treat is presently based on observational studies showing that women who took estrogen had fewer heart attacks. Recently, however, assumptions about the heart disease benefits of HRT have been questioned, as several major studies have shown that in women with heart disease, HRT does not slow heart disease progression.

In an analysis of 309 women with heart disease who took HRT or a placebo, Herrington found that women with a common mutation in the estrogen receptor alpha gene had dramatic increases in high-density lipoprotein (HDL), or the ‘good' cholesterol. The increase in HDL was more than twice as much as in women without the gene variant. These findings are important because increases in HDL cholesterol are believed to help prevent heart disease, especially in women.

"If our findings hold true, a simple gene test could help doctors and women make better decisions about the use of hormone replacement therapy for prevention of heart disease,” said Dr. Herrington. However, additional research is needed to learn if this gene variant also makes women more sensitive to other beneficial effects of estrogen--including maintaining bone mineral density and reducing hot flashes--as well as to negative effects of estrogen, such as formation of blood clots in the legs.




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Wake Forest University School of Medicine