A pragmatic clinical trial of cascade testing for familial hypercholesterolemia.

ABSTRACT:

Purpose

We compared new cases detected per index case in familial hypercholesterolemia (FH) families with or without an identifiable monogenic etiology.

Methods

We enrolled 52 FH probands with a pathogenic variant (FH^g+) in LDLR, APOB, or PCSK9 and 73 probands without such a variant (FH^g-). After direct contact by the study team, family members (FMs) of FH^g+ probands could opt-in for genetic testing and FMs of FH^g- probands were asked to provide a lipid profile. New cases were defined as presence of a pathogenic variant in FH^g+ families and as low-density lipoprotein cholesterol ≥155 mg/dL in FH^g- families.

Results

Of 71 FH^g+ probands seen by a genetic counselor, 52 consented and identified 2

SUBMITTER: Miller AA 

PROVIDER: S-EPMC9944844 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature