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Published in: Indian Journal of Pediatrics 5/2018

01-05-2018 | Editorial Commentary

Familial Hypercholesterolemia: Nip the Evil in the Bud

Authors: Bhawana Aggarwal, Neerja Gupta

Published in: Indian Journal of Pediatrics | Issue 5/2018

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Excerpt

Familial Hypercholesterolemia (FH) is an autosomal dominant monogenic disorder characterised by lifetime elevation in plasma concentration of low density lipoprotein (LDL) cholesterol levels owing to impaired hepatic clearance of LDL cholesterol particles and the family history of dyslipidemia and cardiovascular disease (CVD). Various external manifestations including tendinous xanthoma, xanthelasma and corneal arcus result from deposition of low density lipoprotein-cholesterol (LDL-C) in tissues, whereas deposition in the blood vessels leads to the most dreaded complication of premature CVD. …
Literature
1.
go back to reference Nordestgaard BG, Chapman MJ, Humphries SE, et al. 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;34:3478–90.CrossRefPubMedPubMedCentral Nordestgaard BG, Chapman MJ, Humphries SE, et al. 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;34:3478–90.CrossRefPubMedPubMedCentral
2.
go back to reference Wiegman A, Gidding SS, Watts GF, et al. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart J. 2015;36:2425–37.CrossRefPubMedPubMedCentral Wiegman A, Gidding SS, Watts GF, et al. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart J. 2015;36:2425–37.CrossRefPubMedPubMedCentral
3.
go back to reference Futema M, Plagnol V, Whittall RA, Neil HA, Humphries SE; Simon Broome Register Group. Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia. J Med Genet. 2012;49:644–9. Futema M, Plagnol V, Whittall RA, Neil HA, Humphries SE; Simon Broome Register Group. Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia. J Med Genet. 2012;49:644–9.
6.
go back to reference Ademi Z, Watts GF, Pang J, et al. Cascade screening based on genetic testing is cost effective: evidence for the implementation of models of care for familial hypercholesterolaemia. J Clin Lipidol. 2014;8:390–400.CrossRefPubMed Ademi Z, Watts GF, Pang J, et al. Cascade screening based on genetic testing is cost effective: evidence for the implementation of models of care for familial hypercholesterolaemia. J Clin Lipidol. 2014;8:390–400.CrossRefPubMed
7.
go back to reference Wonderling D, Umans-Eckenhausen MA, Marks D, Defesche J, Kastelein J, Thorogood M. Cost-effectiveness analysis of the genetic screening program for familial ypercholesterolemia in the Netherlands. Semin Vasc Med. 2004;4:97–104.CrossRefPubMed Wonderling D, Umans-Eckenhausen MA, Marks D, Defesche J, Kastelein J, Thorogood M. Cost-effectiveness analysis of the genetic screening program for familial ypercholesterolemia in the Netherlands. Semin Vasc Med. 2004;4:97–104.CrossRefPubMed
8.
go back to reference Goldberg AC, Hopkins PN, Toth PP, et al; National Lipid Association Expert Panel on Familial Hypercholesterolemia. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on familial hypercholesterolemia. J Clin Lipidol. 2011;5:133–40. Goldberg AC, Hopkins PN, Toth PP, et al; National Lipid Association Expert Panel on Familial Hypercholesterolemia. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on familial hypercholesterolemia. J Clin Lipidol. 2011;5:133–40.
9.
go back to reference Wiegman A, Hutten BA, de Groot E, et al. Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized controlled trial. JAMA. 2004;292:331–7.CrossRefPubMed Wiegman A, Hutten BA, de Groot E, et al. Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized controlled trial. JAMA. 2004;292:331–7.CrossRefPubMed
10.
go back to reference Thompson GR. The evidence-base for the efficacy of lipoprotein apheresis in combating cardiovascular disease. Atheroscler Suppl. 2013;14:67–70.CrossRefPubMed Thompson GR. The evidence-base for the efficacy of lipoprotein apheresis in combating cardiovascular disease. Atheroscler Suppl. 2013;14:67–70.CrossRefPubMed
11.
go back to reference Cuchel M, Bruckert E, Ginsberg HN, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. Eur Heart J. 2014;35:2146–57.CrossRefPubMedPubMedCentral Cuchel M, Bruckert E, Ginsberg HN, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. Eur Heart J. 2014;35:2146–57.CrossRefPubMedPubMedCentral
12.
go back to reference Raal FJ, Santos RD, Blom DJ, et al. Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial. Lancet. 2010;375:998–1006.CrossRefPubMed Raal FJ, Santos RD, Blom DJ, et al. Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial. Lancet. 2010;375:998–1006.CrossRefPubMed
13.
go back to reference Cuchel M, Meagher EA, du Toit Theron H, et al. Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study. Lancet. 2013;381:40–6.CrossRefPubMed Cuchel M, Meagher EA, du Toit Theron H, et al. Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study. Lancet. 2013;381:40–6.CrossRefPubMed
Metadata
Title
Familial Hypercholesterolemia: Nip the Evil in the Bud
Authors
Bhawana Aggarwal
Neerja Gupta
Publication date
01-05-2018
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 5/2018
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-018-2664-6

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