Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries. (January 2020)

• Record Type: Journal Article
• Authors: Ramaswami, Uma; Futema, Marta; Bogsrud, Martin P.; Holven, Kirsten B.; Roeters van Lennep, Jeanine; Wiegman, Albert; Descamps, Olivier S.; Vrablik, Michal; Freiberger, Tomas; Dieplinger, Hans; Greber-Platzer, Susanne; Hanauer-Mader, Gabriele; Bourbon, Mafalda; Drogari, Euridiki; Humphries, Steve E.
• Is Part Of: Atherosclerosis. Volume 292(2020)
• Page Start: 178
• Page End: 187
• Publication Date: 2020-01
• Subjects: Heterozygous familial hypercholesterolaemia -- Paediatric FH -- LDL-C concentrations -- Statin treatment; Arteriosclerosis -- Periodicals; Electronic journals; 616.136
• DOI: 10.1016/j.atherosclerosis.2019.11.012
• Languages: English
• ISSNs: 0021-9150

Abstract

Abstract: Background and aims: For children with heterozygous familial hypercholesterolaemia (HeFH), European guidelines recommend consideration of statin therapy by age 8–10 years for those with a low density lipoprotein cholesterol (LDL-C) >3.5 mmol/l, and dietary and lifestyle advice. Here we compare the characteristics and lipid levels in HeFH children from Norway, UK, Netherlands, Belgium, Czech Republic, Austria, Portugal and Greece. Methods: Fully-anonymized data were analysed at the London centre. Differences in registration and on treatment characteristics were compared by standard statistical tests. Results: Data was obtained from 3064 children. The median age at diagnosis differed significantly between countries (range 3–11 years) reflecting differences in diagnostic strategies. Mean (SD) LDL-C at diagnosis was 5.70 (±1.4) mmol/l, with 88% having LDL-C>4.0 mmol/l. The proportion of children older than 10 years at follow-up who were receiving statins varied significantly (99% in Greece, 56% in UK), as did the proportion taking Ezetimibe (0% in UK, 78% in Greece). Overall, treatment reduced LDL-C by between 28 and 57%, however, in those >10 years, 23% of on-treatment children still had LDL-C>3.5 mmol/l and 66% of those not on a statin had LDL-C>3.5 mmol/l. Conclusions: The age of HeFH diagnosis in children varies significantly across 8 countries, as does the proportion of those >10 years being treated with statin and/or ezetimibe. Approximately a quarter of the treated children and almost three quarters of the untreated children older than 10 years still have LDL-C concentrations over 3.5 mmol/l. These data suggest that many children with FH are not receiving the full potential benefit of early identification and appropriate lipid-lowering treatment according to recommendations. Graphical abstract: Image 1 Highlights: The age of HeFH diagnosis varies significantly between 8 European countries. The proportion of HeFH children being treated varies across 8 European countries. A quarter of FH children on statins have LDL-C above the target (>3.5 mmol/L). Many FH children are not getting the full benefit of early diagnosis and treatment.