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Comparative Study
. 2020 Jan:292:178-187.
doi: 10.1016/j.atherosclerosis.2019.11.012. Epub 2019 Nov 15.

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

Uma Ramaswami  1 , Marta Futema  2 , Martin P Bogsrud  3 , Kirsten B Holven  4 , Jeanine Roeters van Lennep  5 , Albert Wiegman  6 , Olivier S Descamps  7 , Michal Vrablik  8 , Tomas Freiberger  9 , Hans Dieplinger  10 , Susanne Greber-Platzer  11 , Gabriele Hanauer-Mader  12 , Mafalda Bourbon  13 , Euridiki Drogari  14 , Steve E Humphries  15
Affiliations
Comparative Study

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

Uma Ramaswami et al. Atherosclerosis. 2020 Jan.

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.

Keywords: Heterozygous familial hypercholesterolaemia; LDL-C concentrations; Paediatric FH; Statin treatment.

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Conflict of interest statement

The authors declared they do not have anything to disclose regarding conflict of interest with respect to this manuscript.

Figures

Image 1
Graphical abstract
Fig. 1
Fig. 1
Proportions of children receiving statins by age at follow up per country. Children with follow-up data were grouped into age category (1. younger than 8 years, 2. from 8 to 10 years, 3. 10–15 years, and 4. over 15 years of age).
Fig. 2
Fig. 2
Statin treatment in children older than 10 years of age (at follow-up) per country. Stacked bars represent number of treated and untreated children in each cohort. The percentage on top of each bar shows the proportion of children on statins.
Fig. 3
Fig. 3
Baseline and treated LDL-C in children who went on receiving statins. The percentage on top of latest LDL-C bars represent the reduction in LDL-C by treatment in each cohort.
See this image and copyright information in PMC

References

    1. Nordestgaard B.G., Chapman M.J., Humphries S.E., Ginsberg H.N., Masana L., Descamps O.S. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur. Heart J. 2013;34(45) 3478-90a. - PMC - PubMed
    1. Marks D., Thorogood M., Neil H.A., Humphries S.E. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis. 2003;168(1):1–14. - PubMed
    1. Wald D.S., Bestwick J.P., Wald N.J. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. BMJ. 2007;335(7620):599. - PMC - PubMed
    1. Benn M., Watts G.F., Tybjaerg-Hansen A., Nordestgaard B.G. Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. Eur. Heart J. 2016;37(17):1384–1394. - PubMed
    1. Akioyamen L.E., Genest J., Shan S.D., Reel R.L., Albaum J.M., Chu A. Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. BMJ Open. 2017;7(9) - PMC - PubMed

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