Cascade screening of familial hypercholesterolemia must go on.
OBJECTIVE
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.


CONCLUSIONS
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.
Pharmacology, Vascular and Metabolic Diseases Section of the Department of Internal Medicine and Pediatrics, Erasmus University Medical Centre, Rotterdam, The Netherlands. Electronic address: j.galema-boers@erasmusmc.nl.
J M H
JM
Galema-Boers
Pharmacology, Vascular and Metabolic Diseases Section of the Department of Internal Medicine and Pediatrics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
J
J
Versmissen
Pharmacology, Vascular and Metabolic Diseases Section of the Department of Internal Medicine and Pediatrics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
H W O
HW
Roeters van Lennep
Pharmacology, Vascular and Metabolic Diseases Section of the Department of Internal Medicine and Pediatrics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
J E
JE
Dusault-Wijkstra
Pharmacology, Vascular and Metabolic Diseases Section of the Department of Internal Medicine and Pediatrics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
M
M
Williams
Pharmacology, Vascular and Metabolic Diseases Section of the Department of Internal Medicine and Pediatrics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
J E
JE
Roeters van Lennep
D000293:Adolescent; D053299:Apolipoprotein B-100 / Q000235:genetics; D002318:Cardiovascular Diseases / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D005220:Fathers; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening / Q000379:methods*; D009426:Netherlands; D010290:Parents; D010375:Pedigree; D011973:Receptors, LDL / Q000235:genetics; D012307:Risk Factors
C569471:APOB protein, human; D053299:Apolipoprotein B-100; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; C573412:LDLR protein, human; D011973:Receptors, LDL
Cardiovascular disease; Cascade screening; Familial hypercholesterolemia; Inheritance; Pathogenic variant; Statin