⁎ A Genome-First Approach to Identify Carriers of Familial Hypercholesterolemia Causing variants

Familial hypercholesterolemia (FH) is a highly penetrant monogenic condition affecting ∼1:300 individuals. FH is associated with lifelong LDL-C elevation and increases the risk of premature ASCVD and mortality when not adequately treated.

Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Salma Mami, Joseph Park, Deepak Vedamurth, Marjorie Risman, Daniel J Rader, Archna Bajaj, Marina Cuchel Tags: Genetic Disorders Source Type: research