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

Dr. Perak

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.

MedicalResearch.com: What are the main findings?

Response: In this study, we analyzed data from individuals in 6 large observational studies of US adults with long-term (up to 30-year) follow-up for ASCVD. We compared individuals with the “FH phenotype” (those likely to have FH at baseline based on LDL-C levels and family history of cardiovascular disease) with individuals who had average levels of LDL-C (<130 mg/dL) at baseline. After adjustment for other risk factors (such as blood pressure and smoking), the long-term risks for ASCVD in individuals with the FH phenotype were up to 5 times the risks in individuals with average LDL-C levels. Furthermore, the risk for onset of coronary heart disease was accelerated by 10 to 20 years in men and 20 to 30 years in women with the FH phenotype.

MedicalResearch.com: What should readers take away from your report?

Response: Individuals who have high LDL-C due to underlying FH are at substantially elevated risk for ASCVD. Our findings are important for public health because other studies have shown that familial hypercholesterolemia is widely under-diagnosed and under-treated, including in the US. This study is also important for individual patients because it informs risk-benefit discussions about cholesterol-lowering therapy such as statin medications, which are known to reduce the risk of ASCVD in individuals with familial hypercholesterolemia.

MedicalResearch.com: What recommendations do you have for future research as a result of this study?

Response: Future research should focus on ways to improve the diagnosis and treatment of familial hypercholesterolemia. For example, the Cascade Screening for Awareness and Detection of Familial Hypercholesterolemia (CASCADE-FH) is a registry study that enrolls individuals with FH either directly through web-based sign-up or through lipid clinics to evaluate diagnosis and treatment patterns for FH in the US.

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Long-Term Risk of Atherosclerotic Cardiovascular Disease in US Adults With the Familial Hypercholesterolemia Phenotype

Amanda M. Perak, Hongyan Ning, Sarah D. de Ferranti, Holly C. Gooding, John T. Wilkins and Donald M. Lloyd-Jones
July 5, 2016

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Last Updated on July 18, 2016 by Marie Benz MD FAAD