familial hypercholesterolemia

noun

: an inherited metabolic disorder marked by excess accumulation of LDL cholesterol in the blood resulting especially in atherosclerosis and irregular yellow skin lesions

Examples of familial hypercholesterolemia in a Sentence

Recent Examples on the Web

The 10 patients in this Phase 1 trial had heterozygous familial hypercholesterolemia, a genetic disease that causes high levels of bad cholesterol and advanced heart disease. —Meghana Keshavan, STAT, 13 Nov. 2023

Verve's research was limited to people with a genetic condition called heterozygous familial hypercholesterolemia, in which cholesterol levels are sky-high from birth. —Erika Edwards, NBC News, 12 Nov. 2023

Each had a genetic abnormality, familial hypercholesterolemia, that affects around one million people in the United States. —Gina Kolata, New York Times, 12 Nov. 2023

Although the trial is focused on people with the genetic condition familial hypercholesterolemia, Kathiresan hopes the one-and-done therapy may one day be used more broadly, to permanently reduce the risk of heart disease in millions of people with high cholesterol. —Ryan Cross, BostonGlobe.com, 12 July 2022

Current drugs available for familial hypercholesterolemia lower LDL cholesterol by as much as 50 to 60 percent, but they must be injected once or twice a month, a schedule many patients have a hard time sticking to, said Dr. Gary Balady, director of preventative cardiology at Boston Medical Center. —Ryan Cross, BostonGlobe.com, 12 July 2022

In the next decade, Crispr-Cas9 and other new gene-editing techniques may protect the health not only of Ms. Wilemon and others with familial hypercholesterolemia but millions of people with a range of conditions, including chronic pain and diabetes. —Amy Dockser Marcus, WSJ, 5 May 2021

Some researchers want to use these risk scores much the same way that single-gene variants can predict cancer or the unusual high-cholesterol disorder called familial hypercholesterolemia. —Jeanne Erdmann, Discover Magazine, 17 Apr. 2020

Verve uses base editors to introduce a mutation in the PCSK9 gene of patients with familial hypercholesterolemia. —Ryan Cross, BostonGlobe.com, 12 July 2022

Word History

First Known Use

1966, in the meaning defined above

Medical Definition

familial hypercholesterolemia

noun

: a disorder of lipid metabolism that is caused by defective or absent receptors for LDLs on cell surfaces, that is marked by an increase in blood plasma LDLs and by an accumulation of LDLs in the body (as in connective tissue) resulting in xanthomas, atherosclerosis, and an increased risk of heart attack and coronary artery disease, and that is inherited as an autosomal dominant trait