J M H Galema-Boers1, J Versmissen2, H W O Roeters van Lennep2, J E Dusault-Wijkstra2, M Williams2, J E Roeters van Lennep2. 1. 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. 2. Pharmacology, Vascular and Metabolic Diseases Section of the Department of Internal Medicine and Pediatrics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
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.
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 outpatientlipid clinic between 1992 and 2014 and their FH parents and FH grandparents. RESULTS: We analysed 292 FHchildren 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.
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