Underutilization of Guideline-Recommended Genetic Testing to Diagnose Familial Hypercholesterolemia in a Large, Real-world Cohort

Familial hypercholesterolemia (FH) is a common genetic condition that, if left untreated, is potentially fatal. Clinical practice guidelines recommend that genetic testing for FH be performed if low-density lipoprotein cholesterol (LDL-C) values are markedly elevated or with onset of premature coronary artery disease (CAD). Genetic testing can confirm diagnoses of clinical FH and promote cascade screening for family members. The actual adoption of genetic testing for diagnosis of FH has yet to be quantified using a large, real-world cohort.

Source: Journal of Clinical Lipidology - July 1, 2023 Category: Lipidology Authors: Andrew Ward, McKenna M Nisson, Kanchan Bhasin, Mauro Longoni, Sucheta Bhatt, Fatima Rodriguez, Rajesh Dash, Donghyun Lee Tags: Genetic Disorders Source Type: research