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Indian Journal of Pediatrics

Erschienen in:

29.03.2018 | Editorial Commentary

Familial Hypercholesterolemia: Nip the Evil in the Bud

verfasst von: Bhawana Aggarwal, Neerja Gupta

Erschienen in: Indian Journal of Pediatrics | Ausgabe 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. …

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

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

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.

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Setia N, Saxena R, Sawhney JPS, Verma IC. Familial hypercholesterolemia: cascade screening in children and relatives of the affected. Indian J Pediatr. 2018; https://doi.org/10.1007/s12098-017-2589-5.

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

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

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.

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

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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

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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

Titel: Familial Hypercholesterolemia: Nip the Evil in the Bud
verfasst von: Bhawana Aggarwal
Neerja Gupta
Publikationsdatum: 29.03.2018
Verlag: Springer India
Erschienen in: Indian Journal of Pediatrics / Ausgabe 5/2018
Print ISSN: 0019-5456
Elektronische ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-018-2664-6

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