In a new study published in NPJ Genomic Medicine, Mayo Clinic researchers found that genetic testing may help identify patients with high cholesterol, or hypercholesterolemia. It also may have implications for the clinical management of patients diagnosed with high cholesterol due to a genetic disorder, or familial hypercholesterolemia.
“In our study, we found more than 50% of the people with disease-causing variants did not meet the clinical criteria for familial hypercholesterolemia,” says Iftikhar Kullo, M.D, a Mayo Clinic cardiologist. “Increased genetic testing and population-scale genomics may help to identify patients in this category who otherwise would go undetected.” Dr. Kullo is the senior author of the study.
Hypercholesterolemia is a disease that affects how the body processes cholesterol, the waxy substance found in the blood. It is a significant risk factor for atherosclerotic cardiovascular disease. Nearly 95 million U.S. adults have an elevated cholesterol level, with only half on a lipid-lowering treatment. Both genetic and lifestyle factors are known to predispose a person to hypercholesterolemia.
Prior studies attempted to uncover the genetic basis of hypercholesterolemia included people clinically diagnosed or referred to lipid clinics due to their raised or abnormal levels of blood fats. The reported prevalence of a single gene (monogenic) or two or more genes (polygenic) causes of the disease was high in these cohorts.
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