AHA Journals, Author Interviews, Heart Disease, Lipids / 07.07.2016
Familial Hypercholesterolemia, Widely Under-Diagnosed, Raises Risk of Atherosclerotic Cardiovascular Disease
MedicalResearch.com Interview with:
Amanda M. Perak, MD
Division of Cardiology, Ann & Robert H. Lurie Children’s Hospital of Chicago, and
Department of Preventive Medicine
Northwestern University Feinberg School of Medicine
Donald M Lloyd-Jones, MD/ScM (senior author)
Senior Associate Dean for Clinical and Translational Research; Chair, Department of Preventive Medicine
Director, Northwestern University Clinical and Translational Sciences Institute (NUCATS) and Eileen M. Foell Professor
Professor in Preventive Medicine-Epidemiology and Medicine-Cardiology
MedicalResearch.com: What is the background for this study?
Response: Heterozygous familial hypercholesterolemia, or FH, affects up to 1 in 200 individuals in the United States. FH is a genetic disorder that should be suspected in individuals with very high levels of low-density lipoprotein cholesterol (LDL-C; at least 190 mg/dL) plus a first-degree relative with similar degree of high cholesterol or with premature coronary heart disease. Individuals with FH are exposed to high levels of "bad" cholesterol from birth, so if they are not treated with cholesterol-lowering therapy, they are at elevated risk for atherosclerotic cardiovascular disease (ASCVD; diseases related to hardening of the arteries, including heart attack and stroke). However, these risks previously had not been well quantified in untreated individuals with familial hypercholesterolemia in the general US population.
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