New study finds a silent genetic heart risk hidden in millions

Back to news list

Source: ScienceDaily Health

Original: https://www.sciencedaily.com/releases/2025/12/251207031343.htm...

Published: Mon, 08 Dec 2025 08:09:28 EST

A new Mayo Clinic study found that current clinical criteria fail to detect about 90% of people with familial hypercholesterolemia (FH), an inherited cause of very high blood cholesterol[1][7]. The research included 1,682 people with elevated cholesterol, in whom genetic testing revealed a genetic cause in 17%, with only a small proportion meeting clinical criteria for FH[1]. Many patients with FH already had early heart disease but were not diagnosed according to current guidelines[1]. Familial hypercholesterolemia is caused by a hereditary gene mutation that disrupts cholesterol processing and significantly increases the risk of heart attack or stroke[2][6]. Genetic testing can confirm the diagnosis and allow screening of relatives, improving early diagnosis and treatment[3][8]. The study highlights the need for routine genetic screening and genomics-guided care for better prevention and management of FH[1].