A proof-of-concept study of cascade screening for Familial Hypercholesterolemia in the US, adapted from the Dutch model.

ABSTRACT:

Background

The Dutch cascade screening model for FH was the most successful of such programs in the world. It remains unclear whether aspects of the Dutch model (i.e. direct engagement with FH probands and relatives outside usual healthcare settings) are feasible in the US. This is especially important since prior attempts at cascade screening in the US have had very low screening rates (<10% of families screened).

Methods

We conducted a multi-site single-arm proof-of-concept study in which the US-based FH Foundation (a 501c3 research and advocacy organization) directly engaged with FH probands and relatives similar to the approach taken by the Dutch "Foundation for Tracing FH."

Results

Eleven unrelated probands with genetically confirmed FH were enrolled. Mean age wa

SUBMITTER: McGowan MP 

PROVIDER: S-EPMC8315349 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature