title: [Homozygous familial hypercholesterolaemia: Spanish adaptation of the position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Consensus document of the Spanish Society of Arteriosclerosis (SEA) and Familial Hypercholesterolaemia Foundation (FHF)].
abstract: Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening disease characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). The Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) has recently published a clinical guide to diagnose and manage HoFH (Eur Heart J. 2014;35:2146-57). Both the Spanish Society of Atherosclerosis (SEA) and Familial Hypercholesterolaemia Foundation (FHF) consider this European Consensus document of great value and utility. However, there are particularities in our country which advise to have a Spanish adaptation of the European HoFH document in order to approximate this clinical guide to our environment. In Spain, chronic treatment with statins, ezetimibe and resins (colesevelam) has a reduced contribution in the National Health System (NHS) and is one of the few European countries where LDL apheresis is included in the Basic Service Portfolio coverage. This Spanish document also includes clinical experience in the management of these patients in our country. The Drafting Committee emphasizes the need for early identification of HoFH patients, prompt referral to specialized units, and an early and appropriate treatment. These recommendations will provide a guidance for HoFH patient management in Spain.
authors.affiliation: Sociedad Española de Arteriosclerosis. Servicio de Endocrinología y Nutrición, Hospital Clínico Universitario de Valencia, INCLIVA, Universitat de València, Valencia, España.
authors.forename: Juan F
authors.initials: JF
authors.lastname: Ascaso
authors.affiliation: Fundación Hipercolesterolemia Familiar, Madrid, España.
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata
authors.affiliation: Unidad de Aféresis, Servicio de Hematología y Oncología, Hospital Clínico Universitario de Valencia, INCLIVA, Valencia, España.
authors.forename: Cristina
authors.initials: C
authors.lastname: Arbona
authors.affiliation: Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Servicio de Medicina Interna, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria de Aragón, Zaragoza, España.
authors.forename: Fernando
authors.initials: F
authors.lastname: Civeira
authors.affiliation: Unidad de Lípidos, Servicio de Medicina Interna, Hospital Universitario Virgen de la Victoria, Universidad de Málaga, Málaga, España.
authors.forename: Pedro
authors.initials: P
authors.lastname: Valdivielso
authors.affiliation: Unitat de Recerca de Lipids i Arteriosclerosi, Hospital Universitari Sant Joan, Universitat Rovira i Virgili, IISPV, Reus, Tarragona, España. Electronic address: luis.masana@urv.cat.
authors.forename: Luis
authors.initials: L
authors.lastname: Masana
mesh_terms: D000924:Anticholesteremic Agents / Q000627:therapeutic use*; D001781:Blood Component Removal / Q000379:methods; D008078:Cholesterol, LDL / Q000097:blood*; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy*; D012017:Referral and Consultation; D013030:Spain
chemical_list: D000924:Anticholesteremic Agents; D008078:Cholesterol, LDL
keywords: Aféresis; Apheresis; Diagnosis; Diagnóstico; Estatinas; Ezetimiba; Ezetimibe; Hipercolesterolemia familiar homocigota; Homozygous familial hypercholesterolaemia; Lomitapida; Lomitapide; Statins