Next-generation sequencing to confirm clinical familial hypercholesterolemia

Abstract

A rare pathogenic variant in <i>LDLR</i>, <i>APOB</i> or <i>PCSK9</i> was identified in 14.9% of suspected familial hypercholesterolemia patients and this rate has decreased in the past two decades. Stringent use of clinical criteria algorithms is warranted to increase this yield. Variants in the minor familial hypercholesterolemia genes provide a possible explanation for the familial hypercholesterolemia phenotype in a minority of patients.