-
Something wrong with this record ?
Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
U. Ramaswami, M. Futema, MP. Bogsrud, KB. Holven, J. Roeters van Lennep, A. Wiegman, OS. Descamps, M. Vrablik, T. Freiberger, H. Dieplinger, S. Greber-Platzer, G. Hanauer-Mader, M. Bourbon, E. Drogari, SE. Humphries
Language English Country Ireland
Document type Comparative Study, Journal Article
- MeSH
- Child MeSH
- Heterozygote MeSH
- Hyperlipoproteinemia Type II blood diagnosis drug therapy genetics MeSH
- Cholesterol, LDL blood MeSH
- Humans MeSH
- Child, Preschool MeSH
- Retrospective Studies MeSH
- Hydroxymethylglutaryl-CoA Reductase Inhibitors therapeutic use MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Comparative Study MeSH
- Geographicals
- Europe MeSH
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.
Centre for Cardiovascular Surgery and Transplantation Pekarska 53 656 91 Brno Czech Republic
Centres Hospitaliers Jolimont Lipid Clinic Haine Saint Paul Belgium
Department of Cardiology and Internal Medicine Erasmus Medical Center Rotterdam the Netherlands
Department of Nutrition University of Oslo Oslo Norway
Department of Pediatrics and Academic Medical Center Amsterdam the Netherlands
FH Registry of the Austrian Atherosclerosis Society Vienna Austria
Lysosomal Disorders Unit Royal Free Hospital London UK
References provided by Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc21012933
- 003
- CZ-PrNML
- 005
- 20210507101611.0
- 007
- ta
- 008
- 210420s2020 ie f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1016/j.atherosclerosis.2019.11.012 $2 doi
- 035 __
- $a (PubMed)31809987
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a ie
- 100 1_
- $a Ramaswami, Uma $u Lysosomal Disorders Unit, Royal Free Hospital, London, UK
- 245 10
- $a Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries / $c U. Ramaswami, M. Futema, MP. Bogsrud, KB. Holven, J. Roeters van Lennep, A. Wiegman, OS. Descamps, M. Vrablik, T. Freiberger, H. Dieplinger, S. Greber-Platzer, G. Hanauer-Mader, M. Bourbon, E. Drogari, SE. Humphries
- 520 9_
- $a 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.
- 650 _2
- $a dítě $7 D002648
- 650 _2
- $a předškolní dítě $7 D002675
- 650 _2
- $a LDL-cholesterol $x krev $7 D008078
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a heterozygot $7 D006579
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a statiny $x terapeutické užití $7 D019161
- 650 _2
- $a hyperlipoproteinemie typ II $x krev $x diagnóza $x farmakoterapie $x genetika $7 D006938
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a retrospektivní studie $7 D012189
- 651 _2
- $a Evropa $7 D005060
- 655 _2
- $a srovnávací studie $7 D003160
- 655 _2
- $a časopisecké články $7 D016428
- 700 1_
- $a Futema, Marta $u Centre for Heart Muscle Disease, Institute for Cardiovascular Science, University College London, London, UK
- 700 1_
- $a Bogsrud, Martin P $u 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
- 700 1_
- $a Holven, Kirsten B $u 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
- 700 1_
- $a Roeters van Lennep, Jeanine $u Department of Cardiology and Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands
- 700 1_
- $a Wiegman, Albert $u Department of Pediatrics and Academic Medical Center, Amsterdam, the Netherlands
- 700 1_
- $a Descamps, Olivier S $u Centres Hospitaliers Jolimont, Lipid Clinic, Haine-Saint-Paul, Belgium
- 700 1_
- $a Vrablik, Michal $u Third Department of Internal Medicine, General University Hospital and First Faculty of Medicine, Charles University, U Nemocnice 1, 128 08, Prague 2, Czech Republic
- 700 1_
- $a Freiberger, Tomas $u Centre for Cardiovascular Surgery and Transplantation, Pekarska 53, 656 91, Brno, Czech Republic; Medical Faculty, Masaryk University, Brno, Czech Republic
- 700 1_
- $a Dieplinger, Hans $u Institute of Genetic Epidemiology, Department of Genetics and Pharmacology, Medical University of Innsbruck, Schöpfstraße 41, 6020, Innsbruck, Austria
- 700 1_
- $a Greber-Platzer, Susanne $u Division of Pediatric Pulmonology, Allergology and Endocrinology, Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Austria
- 700 1_
- $a Hanauer-Mader, Gabriele $u FH Registry of the Austrian Atherosclerosis Society, Vienna, Austria
- 700 1_
- $a Bourbon, Mafalda $u 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
- 700 1_
- $a Drogari, Euridiki $u 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
- 700 1_
- $a Humphries, Steve E $u Centre for Cardiovascular Genetics, Institute for Cardiovascular Science, University College London, London, UK. Electronic address: steve.humphries@ucl.ac.uk
- 773 0_
- $w MED00009284 $t Atherosclerosis $x 1879-1484 $g Roč. 292, č. - (2020), s. 178-187
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/31809987 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y p $z 0
- 990 __
- $a 20210420 $b ABA008
- 991 __
- $a 20210507101611 $b ABA008
- 999 __
- $a ok $b bmc $g 1651165 $s 1133312
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2020 $b 292 $c - $d 178-187 $e 20191115 $i 1879-1484 $m Atherosclerosis $n Atherosclerosis $x MED00009284
- LZP __
- $a Pubmed-20210420
