Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing | Cardiology | JAMA | The JAMA Network

Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing | Cardiology | JAMA | The JAMA Network

Cascade Screening for Familial Hypercholesterolemia

This week, we highlight a new JAMA article on cascade screening and genetic testing for familial hypercholesterolemia. Read our new blog post.

For additional information on familial hypercholesterolemia and public health, search our public health genomics knowledge base.

JAMA Insights

July 25, 2017

Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing

Joshua W. Knowles, MD, PhD^1,2; Daniel J. Rader, MD^2,3; Muin J. Khoury, MD, PhD⁴

Author Affiliations Article Information

JAMA. 2017;318(4):381-382. doi:10.1001/jama.2017.8543

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How Studying Familial Hypercholesterolemia Resulted in the Discovery of Statins as an Effective Treatment for High Cholesterol

Familial hypercholesterolemia (FH) is a dominantly inherited genetic disorder affecting approximately 1 in 250 individuals. It is characterized by markedly elevated low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerotic cardiovascular disease (ASCVD).¹ Persons with FH have a 2.5- to 10-fold increased risk of ASCVD compared with controls, but when FH is diagnosed and treated early in life, the risk is greatly reduced (≈ 80%).¹ However, most people with FH have never been diagnosed or treated. Active case finding of FH plus family-based cascade screening can help identify individuals with FH and ensure treatment before ASCVD onset.