HEART UK statement on the management of homozygous familial hypercholesterolaemia in the United Kingdom. - PubMed - NCBI

HEART UK statement on the management of homozygous familial hypercholesterolaemia in the United Kingdom. - PubMed - NCBI

Atherosclerosis. 2016 Nov 5. pii: S0021-9150(16)31420-4. doi: 10.1016/j.atherosclerosis.2016.10.017. [Epub ahead of print]

HEART UK statement on the management of homozygous familial hypercholesterolaemia in the United Kingdom.

France M1, Rees A2, Datta D3, Thompson G4, Capps N5, Ferns G6, Ramaswami U7, Seed M8, Neely D9, Cramb R10, Shoulders C11, Barbir M12, Pottle A13, Eatough R14, Martin S15, Bayly G16, Simpson B17, Halcox J18, Edwards R2, Main L19, Payne J2, Soran H20; for HEART UK Medical Scientific and Research Committee20.

Author information

Abstract

This consensus statement addresses the current three main modalities of treatment of homozygous familial hypercholesterolaemia (HoFH): pharmacotherapy, lipoprotein (Lp) apheresis and liver transplantation. HoFH may cause very premature atheromatous arterial disease and death, despite treatment with Lp apheresis combined with statin, ezetimibe and bile acid sequestrants. Two new classes of drug, effective in lowering cholesterol in HoFH, are now licensed in the United Kingdom. Lomitapide is restricted to use in HoFH but, may cause fatty liver and is very expensive. PCSK9 inhibitors are quite effective in receptor defective HoFH, are safe and are less expensive. Lower treatment targets for lipid lowering in HoFH, in line with those for the general FH population, have been proposed to improve cardiovascular outcomes. HEART UK presents a strategy combining Lp apheresis with pharmacological treatment to achieve these targets in the United Kingdom (UK). Improved provision of Lp apheresis by use of existing infrastructure for extracorporeal treatments such as renal dialysis is promoted. The clinical management of adults and children with HoFH including advice on pregnancy and contraception are addressed. A premise of the HEART UK strategy is that the risk of early use of drug treatments beyond their licensed age restriction may be balanced against risks of liver transplantation or ineffective treatment in severely affected patients. This may be of interest beyond the UK.

Crown Copyright © 2016. Published by Elsevier Ireland Ltd. All rights reserved.

KEYWORDS:

Consensus; HEART UK; Homozygous familial hypercholesterolaemia; Lipoprotein apheresis; Lomitapide; evolocumab, proprotein convertase subtilisin kexin type 9

PMID:

 

27839699

 

DOI:

 

10.1016/j.atherosclerosis.2016.10.017

[PubMed - as supplied by publisher] 

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Last Updated: Nov 16, 2016

• HEART UK statement on the management of homozygous familial hypercholesterolaemia in the United Kingdom.
  France Michael et al. Atherosclerosis 2016 Nov
• What Gets Measured Gets Done: Public Health Progress in Familial Hypercholesterolemia
  J Knowles and MJ Khoury, CDC Blog Post, November 9, 2016
• Testing toddlers for inherited heart disease 
  Genomics Education UK, October 31, 2016
• Challenges in the health economics of familial hypercholesterolemia.
  Norman Richard et al. Current opinion in lipidology 2016 Oct
• Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
  Sánchez-Hernández Rosa M, et al. Circulation. Cardiovascular genetics 2016 10
• Test cholesterol of one-year-olds to prevent early heart attacks, study suggests 
  The Guardian, October 26, 2016
• Child–Parent Familial Hypercholesterolemia Screening in Primary Care
  DS Wald et al, NEJM, October 26, 2016
• What Should Be the Screening Strategy for Familial Hypercholesterolemia
  BW McCrindle et al, NEJM, October 26, 2016
• The panorama of familial hypercholesterolemia in Latin America: a systematic review.
  Mehta Roopa et al. Journal of lipid research 2016 Oct
• Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
  Brænne Ingrid et al. European journal of human genetics : EJHG 2016 Feb 24(2) 191-7
• Familial hypercholesterolemia among unselected contemporary patients presenting with first myocardial infarction: Prevalence, risk factor burden, and impact on age at presentation.
  Mortensen Martin Bødtker et al. Journal of clinical lipidology 10(5) 1145-1152.e1
• Familial hypercholesterolemia in a large ambulatory population: Statin use, optimal treatment, and identification for advanced medical therapies.
  Knickelbine Thomas et al. Journal of clinical lipidology 10(5) 1182-7
• US physician practices for diagnosing familial hypercholesterolemia: data from the CASCADE-FH registry.
  Ahmad Zahid S et al. Journal of clinical lipidology 10(5) 1223-9
• Personal Stories of Patients with Familial Hypercholesterolemia
  The FH Foundation
• The Cards I Was Dealt- My Life With Familial Hypercholesterolemia
  M Ames, Circulation: Cardiovascular Quality & Outcomes, 2015

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• Genetics and Genomics Competencies Center (G2C2)
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