domingo, 15 de diciembre de 2019

Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European ... - PubMed - NCBI

2019 Nov 15;292:178-187. doi: 10.1016/j.atherosclerosis.2019.11.012. [Epub ahead of print]

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

Ramaswami U1, Futema M2, Bogsrud MP3, Holven KB4, Roeters van Lennep J5, Wiegman A6, Descamps OS7, Vrablik M8, Freiberger T9, Dieplinger H10, Greber-Platzer S11, Hanauer-Mader G12, Bourbon M13, Drogari E14, Humphries SE15.

Author information

1: Lysosomal Disorders Unit, Royal Free Hospital, London, UK.
2: Centre for Heart Muscle Disease, Institute for Cardiovascular Science, University College London, London, UK.
3: National Advisory Unit on Familial Hypercholesterolemia, Department of Endocrinology, Morbid Obesity and Preventive Medicine, Oslo University Hospital, Oslo, Norway; Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
4: National Advisory Unit on Familial Hypercholesterolemia, Department of Endocrinology, Morbid Obesity and Preventive Medicine, Oslo University Hospital, Oslo, Norway; Department of Nutrition, University of Oslo, Oslo, Norway.
5: Department of Cardiology and Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands.
6: Department of Pediatrics and Academic Medical Center, Amsterdam, the Netherlands.
7: Centres Hospitaliers Jolimont, Lipid Clinic, Haine-Saint-Paul, Belgium.
8: Third Department of Internal Medicine, General University Hospital and First Faculty of Medicine, Charles University, U Nemocnice 1, 128 08, Prague 2, Czech Republic.
9: Centre for Cardiovascular Surgery and Transplantation, Pekarska 53, 656 91, Brno, Czech Republic; Medical Faculty, Masaryk University, Brno, Czech Republic.
10: Institute of Genetic Epidemiology, Department of Genetics and Pharmacology, Medical University of Innsbruck, Schöpfstraße 41, 6020, Innsbruck, Austria.
11: Division of Pediatric Pulmonology, Allergology and Endocrinology, Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Austria.
12: FH Registry of the Austrian Atherosclerosis Society, Vienna, Austria.
13: Cardiovascular Research Group, Research and Development Unit, Department of Health Promotion and Chronic Diseases, National Institute of Health Doutor Ricardo Jorge, Lisbon, Portugal and University of Lisboa, Faculty of Sciences, BioISI - Biosystems & Integrative Sciences Institute, Lisboa, Portugal.
14: First Department of Pediatrics, National and Kapodistrian University of Athens and Department of Inborn Errors of Metabolism and Inherited Dyslipidemias, "MITERA" Children's Hospital, Athens, Greece.
15: Centre for Cardiovascular Genetics, Institute for Cardiovascular Science, University College London, London, UK. Electronic address: steve.humphries@ucl.ac.uk.

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.