New Case Detection by Cascade Testing in Familial Hypercholesterolemia: A Systematic Review of the Literature.

ABSTRACT:

Background

The prevalence of familial hypercholesterolemia is 1 in 250, but <10% of patients are diagnosed. Cascade testing enables early detection of cases through systematic family tracing. Establishment of familial hypercholesterolemia cascade testing programs in the US could be informed by approaches used elsewhere.

Methods

We conducted a systematic review of published studies in the English language of cascade testing for familial hypercholesterolemia, which reported the number of index cases and number of relatives tested and specified methods of contacting relatives and testing modalities methods utilized. For each study, we calculated yield (proportion of relatives who test positive) and new cases per index case, to facilitate comparison.

Results

We identified

SUBMITTER: Lee C 

PROVIDER: S-EPMC9875692 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature