Diagnosis, management and prognosis of familial hypercholesterolaemia in a UK tertiary cardiac centre

References

• Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet Lond Engl. 1969;2:1380–1382.
   PubMed Web of Science ®Google Scholar
• Stone NJ, Levy RI, Fredrickson DS, et al. Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia. Circulation. 1974;49:476–488.
   PubMed Web of Science ®Google Scholar
• Gagné C, Moorjani S, Brun D, et al. Heterozygous familial hypercholesterolemia. Relationship between plasma lipids, lipoproteins, clinical manifestations and ischaemic heart disease in men and women. Atherosclerosis. 1979;34:13–24.
   PubMed Web of Science ®Google Scholar
• National Institute for Health and Care Excellence. Familial hypercholesterolaemia: identification and management (NICE Clinical Guideline CG71) [Internet]. 2016 [cited 2017 May 2]. Available from: https://www.nice.org.uk/guidance/cg71
   Google Scholar
• National Institute for Health and Care Excellence. Familial hypercholesterolaemia - Quality standard [QS41] [Internet]. 2013 [cited 2018 Jul 26]. Available from: https://www.nice.org.uk/guidance/qs41.
   Google Scholar
• Neil HA, Hammond T, Huxley R, et al. Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. BMJ. 2000;321:148.
   PubMed Web of Science ®Google Scholar
• Benn M, Watts GF, Tybjaerg-Hansen A, et al. Familial hypercholesterolemia in the Danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab. 2012;97:3956–3964.
   PubMed Web of Science ®Google Scholar
• Sjouke B, Kusters DM, Kindt I, et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J. 2015;36:560–565.
   PubMed Web of Science ®Google Scholar
• Wald DS, Bestwick JP, Morris JK, et al. Child-Parent Familial Hypercholesterolemia Screening in Primary Care. N Engl J Med. 2016;375:1628–1637.
   PubMed Web of Science ®Google Scholar
• Bouhairie VE, Goldberg AC. Familial hypercholesterolemia. Cardiol Clin. 2015;33:169–179.
   PubMed Web of Science ®Google Scholar
• National Institute for Health and Care Excellence. Alirocumab for treating primary hypercholesterolaemia and mixed dyslipidaemia: technology appraisal guidance [TA393] [Internet]. 2016 [cited 2017 May 22]. Available from: https://www.nice.org.uk/guidance/ta393/chapter/1-Recommendations.
   Google Scholar
• National Institute for Health and Care Excellence. Evolocumab for treating primary hypercholesterolaemia and mixed dyslipidaemia: technology appraisal guidance [TA394] [Internet]. 2016 [cited 2017 May 22]. Available from: https://www.nice.org.uk/guidance/ta394/chapter/1-Recommendations.
   Google Scholar
• Department of Health. Governance arrangements for research ethics committees: a harmonised edition [Internet] 2012 [cited 2018 Apr 6]. Available from: https://www.gov.uk/government/publications/health-research-ethics-committees-governance-arrangements.
   Google Scholar
• HEART UK. Advice sheet AS04: diagnostic criteria for familial hypercholesterolaemia using Simon Broome register [Internet]. [ cited 2017 May 2]. Available from: http://heartuk.org.uk/files/uploads/documents/HUK_AS04_Diagnostic.pdf.
   Google Scholar
• Brunham LR, Cermakova L, Lee T, et al. Contemporary trends in the management and outcomes of patients with familial hypercholesterolemia in Canada: a prospective observational study. Can J Cardiol. 2017;33:385–392.
   PubMed Web of Science ®Google Scholar
• deGoma EM, Ahmad ZS, O’Brien EC, et al. Treatment gaps in adults with heterozygous familial hypercholesterolemia in the United States: data from the CASCADE-FH registry. Circ Cardiovasc Genet. 2016;9:240–249.
   PubMed Web of Science ®Google Scholar
• Pérez de Isla L, Alonso R, Mata N, et al. Predicting cardiovascular events in familial hypercholesterolemia: the SAFEHEART registry (Spanish familial hypercholesterolemia cohort study). Circulation. 2017;135:2133–2144.
   PubMed Web of Science ®Google Scholar
• Hadfield SG, Horara S, Starr BJ, et al. Are patients with familial hypercholesterolaemia well managed in lipid clinics? An audit of eleven clinics from the Department of Health familial hypercholesterolaemia cascade testing project. Ann Clin Biochem. 2008;45:199–205.
   Web of Science ®Google Scholar
• Pijlman AH, Huijgen R, Verhagen SN, et al. Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands. Atherosclerosis. 2010;209:189–194.
   PubMed Web of Science ®Google Scholar
• Perez de Isla L, Alonso R, Watts GF, et al. Attainment of LDL-cholesterol treatment goals in patients with familial hypercholesterolemia: 5-year SAFEHEART registry follow-up. J Am Coll Cardiol. 2016;67:1278–1285.
   PubMed Web of Science ®Google Scholar
• Béliard S, Carreau V, Carrié A, et al. Improvement in LDL-cholesterol levels of patients with familial hypercholesterolemia: can we do better? Analysis of results obtained during the past two decades in 1669 French subjects. Atherosclerosis. 2014;234:136–141.
   Web of Science ®Google Scholar
• Rossebø AB, Pedersen TR, Boman K, et al. Intensive lipid lowering with simvastatin and ezetimibe in aortic stenosis. N Engl J Med. 2008;359:1343–1356.
   PubMed Web of Science ®Google Scholar
• Gupta A, Thompson D, Whitehouse A, et al. Adverse events associated with unblinded, but not with blinded, statin therapy in the Anglo-Scandinavian Cardiac Outcomes Trial—lipid-Lowering Arm (ASCOT-LLA): a randomised double-blind placebo-controlled trial and its non-randomised non-blind extension phase. Lancet [Internet]. 2017 [cited 2017 May 31]; Available from: http://linkinghub.elsevier.com/retrieve/pii/S0140673617310759.
   Google Scholar
• Collins R, Reith C, Emberson J, et al. Interpretation of the evidence for the efficacy and safety of statin therapy. Lancet. 2016;388:2532–2561.
   PubMed Web of Science ®Google Scholar
• Stroes ES, Thompson PD, Corsini A, et al. Statin-associated muscle symptoms: impact on statin therapy-European atherosclerosis society consensus panel statement on assessment, aetiology and management. Eur Heart J. 2015;36:1012–1022.
   PubMed Web of Science ®Google Scholar
• Amgen Ltd. Repatha SureClick: summary of product characteristics [Internet]. 2017 [cited 2017 May 22]. Available from: https://www.medicines.org.uk/emc/medicine/30628.
   Google Scholar
• Sanofi. Praluent solution for injection in pre-filled pen: summary of product characteristics [Internet]. 2016 [cited 2017 May 22]. Available from: https://www.medicines.org.uk/emc/medicine/30956.
   Google Scholar
• Schmidt AF, Pearce LS, Wilkins JT, et al. PCSK9 monoclonal antibodies for the primary and secondary prevention of cardiovascular disease. The Cochrane Collaboration, editor. Cochrane database systematic review [Internet]. Chichester, UK: John Wiley & Sons, Ltd; 2017 [cited 2017 Apr 28; 4]. DOI: 10.1002/14651858.CD011748.pub2.
   Google Scholar
• Kastelein JJP, Hovingh GK, Langslet G, et al. Efficacy and safety of the proprotein convertase subtilisin/kexin type 9 monoclonal antibody alirocumab vs placebo in patients with heterozygous familial hypercholesterolemia. J Clin Lipidol. 2017;11:195–203.e4.
   PubMed Web of Science ®Google Scholar
• Gouni-Berthold I, Descamps OS, Fraass U, et al. Systematic review of published phase 3 data on anti-PCSK9 monoclonal antibodies in patients with hypercholesterolaemia: systematic review of anti-PCSK9 antibodies for hypercholesterolaemia. Br. J. Clin. Pharmacol. 2016;82:1412–1443.
   PubMed Web of Science ®Google Scholar
• Dufour R, Bergeron J, Gaudet D, et al. Open-label therapy with alirocumab in patients with heterozygous familial hypercholesterolemia: results from three years of treatment. Int J Cardiol. 2017;228:754–760.
   PubMed Web of Science ®Google Scholar
• Kastelein JJP, Ginsberg HN, Langslet G, et al. ODYSSEY FH I and FH II: 78 week results with alirocumab treatment in 735 patients with heterozygous familial hypercholesterolaemia. Eur Heart J. 2015;36:2996–3003.
   PubMed Web of Science ®Google Scholar
• Wang A, Richhariya A, Gandra SR, et al. Systematic review of low‐density lipoprotein cholesterol apheresis for the treatment of familial hypercholesterolemia. J Am Heart Assoc. 2016;5:e003294.
   Web of Science ®Google Scholar
• Hohenstein B, Tselmin S, Bornstein SR, et al. How effectively will PCSK9 inhibitors allow retrieval of freedom from apheresis in cardiovascular high risk patients? - estimates form a large single center. Atheroscler Suppl. 2017;30:28–32.
   Web of Science ®Google Scholar
• Nordestgaard BG, Chapman MJ, Ray K, et al. Lipoprotein(a) as a cardiovascular risk factor: current status. Eur Heart J. 2010;31:2844–2853.
   PubMed Web of Science ®Google Scholar
• Langsted A, Kamstrup PR, Benn M, et al. High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia: a prospective cohort study. Lancet Diabetes Endocrinol. 2016;4:577–587.
   PubMed Web of Science ®Google Scholar
• Di Angelantonio E, Gao P, Pennells L, et al.; Emerging Risk Factors Collaboration. Lipid-related markers and cardiovascular disease prediction. JAMA. 2012;307:2499–2506.
   PubMed Web of Science ®Google Scholar