Summary of Presentations from the Aegerion Pharmaceuticals- Supported Symposium, held at the Annual ESC Congress, Barcelona, Spain, on 1st September 2014
*Lale Tokgözoğlu,1 Emilio Ros,2 John P. Kastelein,3 Dirk Blom,4 John Deanfield5
1. Hacettepe University, Ankara, Turkey
2. Hospital Clinic, Barcelona and CIBER Fisiopatología de la Obesidad y Nutrición (CIBERobn), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
3. University of Amsterdam, Amsterdam, the Netherlands
4. University of Cape Town, Cape Town, South Africa
5. University College Hospital, London, UK
*Correspondence to firstname.lastname@example.org
Disclosure: In the last 12 months, the authors have acted as consultants and/or received grants or honoraria from the following companies – Prof Tokgözoğlu: Abbott, Actelion, Aegerion, AstraZeneca, Bayer, Boehringer-Ingelheim, Daiichi-Sankyo, Kowa, MSD, Novartis, Pfizer, Roche, Sanofi, and Servier. Dr Ros: Amgen, California Walnut Commission, Danone, Ferrer, Progenika, Roche, Sanofi, Synageva, and Unilever. Prof Kastelein: Amgen, Aegerion, AstraZeneca, Boehringer Ingelheim, Catabasis, Cerenis, CSL Behring, Dezima Pharmaceuticals, Eli Lilly, Esperion, Genzyme, Isis, MSD, Novartis, Omthera, Pfizer, Regeneron, Sanofi, The Medicines Company, UniQure, and Vivus. Dr Blom: Aegerion, Amgen AstraZeneca, Merck, Pfizer, Sanofi-Aventis, Ranbaxy, Servier, and Unilever. Prof Deanfield: Aegerion, Amgen, Danone, GlaxoSmithKline, Merck, Pfizer, Sanofi, and Servier. Each of the authors spoke at the symposia and were paid an honorarium by Aegerion Pharmaceuticals to serve as a speaker. Acknowledgements: Medical writing services were supplied by Eastmond Medicomm Ltd.
Support: Medical writing assistance was funded by Aegerion, the manufacturer of lomitapide. The authors were responsible for the content of the review; Aegerion Pharmaceuticals reviewed it for scientific accuracy and compliance reasons. CIBERobn is an initiative of ISCIII, Spain.
Citation: EMJ Cardiol. 2014;2:46-53.
Homozygous familial hypercholesterolaemia (HoFH), a rare inherited lipid disorder usually caused by bi-allelic defects in the LDLR gene, is characterised by marked elevation in low-density lipoprotein -cholesterol (LDL-C). Aggressive, early intervention with lipid-lowering therapy is warranted in patients with HoFH, and the recent introduction of new drug treatments including lomitapide and mipomersen has enabled physicians and their patients to achieve lower LDL-C levels than previously possible in this hard- to-treat condition. Understanding the overall impact of new interventions in HoFH requires a correct assessment of the true prevalence of the disease. Although it is rare, emerging studies suggest that HoFH may be more common than previously thought. We have reviewed data on the epidemiology and management of HoFH, with a focus on raising awareness on this condition so that clinicians can be made aware of the potential for genetic causes for presentation with premature cardiovascular disease. As classic clinical characteristics may be absent in HoFH patients, genetic status and/or family history should be part of the assessment of patients with significantly elevated LDL-C and premature atherosclerosis with a premature heart attack or clinical complications. As direct outcomes data for new treatments for HoFH are not yet available, intermediate phenotypes of arterial structure and function are being studied as endpoints in clinical trials. Novel therapies which enable lowering of LDL-C to levels that were, until recently, unachievable, have the potential to alter cardiovascular morbidity and mortality in this high-risk group of patients.
Keywords: Homozygous familial hypercholesterolaemia, prevalence, incidence, myocardial infarction, cardiovascular outcomes, premature mortality, lipid-lowering therapy, lomitapide, mipomersen.