Testing for genetic mutations that cause severe elevations of cholesterol in the blood could benefit women with familial hypercholesterolemia, UT Southwestern Medical Center researchers have found.

Familial hypercholesterolemia – a genetic disorder characterized by high cholesterol levels – is usually diagnosed based on a combination of clinical information (elevated blood levels of LDL, or “bad” cholesterol) and a family history of heart attack at an early age. Although mutations in three well-known genes can cause familial hypercholesterolemia, most patients with the disorder are not tested for mutations.

Dr. Abhimanyu Garg, Professor of Internal Medicine; Dr. Zahid Ahmad, Assistant Professor of Internal Medicine; and colleagues examined the medical histories of 276 unrelated people with familial hypercholesterolemia. Ninety-nine of these patients had mutations in one of the known causal genes; 177 did not have a mutation. The researchers then compared the occurrence of premature coronary heart disease – heart attack, angina, or blocked coronary arteries before age 55 in men and before age 65 in women – between the two groups.

Women who had mutations had a 2½ times greater risk of developing early coronary heart disease than the women lacking a mutation. There was not a significant difference between men who had a mutation and men who did not.

“Although genetic testing is not standard practice, this research suggests that there may be some benefit to performing genetic testing in patients with familial hypercholesterolemia, especially in women,” said Dr. Garg. “For those who have a mutation, it lets them know that they should be more aggressive in lowering cholesterol and start treatment earlier in life,”

The research appears in the Journal of Clinical Lipidology.

Dr. Garg holds the Distinguished Chair in Human Nutrition Research.