Cascade Screening for Familial Hypercholesterolemia from Pediatric Index Cases Diagnosed Through Universal Screening

Heterozygous Familial Hypercholesterolemia (HeFH) is an autosomal dominant genetic disorder that affects approximately 1 in 300 people1, 2 worldwide, making it the most common life-threatening inherited metabolic condition. It is characterized by lifelong abnormally high levels of low-density lipoprotein cholesterol (LDL-C) that cause atherosclerotic cardiovascular disease (ASCVD) and premature cardiovascular disease events, including myocardial infarction and stroke3. Without treatment, patients with HeFH often develop ASCVD events before age 604.
Source: Journal of Clinical Lipidology - Category: Lipidology Authors: Tags: Brief Communication Source Type: research