Cascade screening of familial hypercholesterolemia must go on

Abstract Purpose This study assesses the success of the recently terminated Dutch nationwide cascade screening by examining whether children with familial hypercholesterolemia (FH) were identified through family screening or due to cardiovascular (CVD) events in the FH parent. Methods We collected c...

Full description

Saved in:
Bibliographic Details
Published in:Atherosclerosis 2015-10, Vol.242 (2), p.415-417
Main Authors: Galema-Boers, J.M.H, Versmissen, J, Roeters van Lennep, H.W.O, Dusault-Wijkstra, J.E, Williams, M, Roeters van Lennep, J.E
Format: Article
Language:English
Subjects:
Adolescent
Apolipoprotein B-100 - genetics
Cardiovascular
Cardiovascular disease
Cardiovascular Diseases - diagnosis
Cascade screening
Child
Child, Preschool
Familial hypercholesterolemia
Fathers
Female
Genetic Predisposition to Disease
Genetic Variation
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors - therapeutic use
Hyperlipoproteinemia Type II - diagnosis
Infant
Infant, Newborn
Inheritance
Male
Mass Screening - methods
Netherlands
Parents
Pathogenic variant
Pedigree
Receptors, LDL - genetics
Risk Factors
Statin
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract Purpose This study assesses the success of the recently terminated Dutch nationwide cascade screening by examining whether children with familial hypercholesterolemia (FH) were identified through family screening or due to cardiovascular (CVD) events in the FH parent. Methods We collected clinical information of all children (0–18 years) with FH with a pathogenic variant at our outpatient lipid clinic between 1992 and 2014 and their FH parents and FH grandparents. Results We analysed 292 FH children from 205 parents with FH. A history of premature CVD was present in 20% of the parents (29% of the fathers, 9% of the mothers) and 49% of the FH grandparents. Conclusion The fact that CVD is still a presenting event of FH in especially fathers shows that nationwide screening might have been terminated too early. Therefore we recommend to proceed the cascade screening.
ISSN:0021-9150
1879-1484
DOI:10.1016/j.atherosclerosis.2015.07.020