Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.

ABSTRACT: Objective: Familial hypercholesterolemia (FH) is traditionally defined as a monogenic disease characterized by severely elevated LDL-C (low-density lipoprotein cholesterol) levels. In practice, FH is commonly a clinical diagnosis without confirmation of a causative mutation. In this study, we sought to characterize and compare monogenic and clinically defined FH in a large sample of Icelanders.

SUBMITTER: Bjornsson E 

PROVIDER: S-EPMC8454500 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature