Author, as appears in the article.: Cuchel M; Bruckert E; Ginsberg HN; Raal FJ; Santos RD; Hegele RA; Kuivenhoven JA; Nordestgaard BG; Descamps OS; Steinhagen-Thiessen E; Tybjærg-Hansen A; Watts GF; Averna M; Boileau C; Borén J; Catapano AL; Defesche JC; Hovingh GK; Humphries SE; Kovanen PT; Masana L; Pajukanta P; Parhofer KG; Ray KK; Stalenhoef AFH; Stroes E; Taskinen M-R; Wiegman A; Wiklund O; Chapman MJ
Department: Medicina i Cirurgia
URV's Author/s: Masana Marín, Luis
Keywords: Xanthomatosis Xanthoma Triglyceride transfer protein Tendon xanthoma Surgical approach Statins Sitosterolemia Review Procedures Priority journal Practice guidelines as topic Practice guideline Plasma-cholesterol Phenotypic variation Phenotypic heterogeneity Phenotype Pedigree Mutation Monoclonal-antibody Mipomersen Low density lipoprotein cholesterol Lomitapide Liver-transplantation Liver transplantation Lipoprotein apheresis Lipid metabolism Lifestyle modification Ldl-apheresis In vivo study In vitro study Hypocholesterolemic agent Hyperlipoproteinemia type ii Hydroxymethylglutaryl coenzyme a reductase inhibitor Humans Human Homozygous familial hypercholesterolemia Homozygous familial hypercholesterolaemia Homozygote High risk patient Heart Health care facility Genetics Genetic variability Genetic screening Genetic heterogeneity Gene frequency Follow up Family history Familial hypercholesterolemia Ezetimibe Exercise test Early diagnosis Doppler echocardiography Disease severity Differential diagnosis Diet Diagnosis, differential Diagnosis Density-lipoprotein cholesterol Cutaneous xanthoma Coronary-heart-disease Cornea curvature Controlled-trial Consensus development Computer assisted tomography Computed tomographic angiography Cholesterol, ldl Cholesterol blood level Cardiovascular magnetic resonance Cardiovascular diseases Cardiovascular disease Blood component removal Atherosclerotic cardiovascular disease Atherosclerosis Arcus senilis Apolipoprotein-b Apheresis Aortic-stenosis Aorta Antilipemic agent Anticholesteremic agents phenotypic heterogeneity mipomersen lomitapide lipoprotein apheresis homozygous familial hypercholesterolaemia genetics ezetimibe diagnosis
Abstract: Aims: Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). Given recent insights into the heterogeneity of genetic defects and clinical phenotype of HoFH, and the availability of new therapeutic options, this Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) critically reviewed available data with the aim of providing clinical guidance for the recognition and management of HoFH. Methods and results: Early diagnosis ofHoFHand prompt initiation of diet and lipid-lowering therapy are critical. Genetic testing may provide a definitive diagnosis, but if unavailable, markedly elevated LDL-C levels together with cutaneous or tendon xanthomas before 10 years, or untreated elevated LDL-C levels consistent with heterozygous FH in both parents, are suggestive of HoFH.We recommend that patients with suspected HoFH are promptly referred to specialist centres for a comprehensiveACVDevaluation and clinical management. Lifestyle intervention and maximal statin therapy are the mainstays of treatment, ideally started in the first year of life or at an initial diagnosis, often with ezetimibe and other lipid-modifying therapy. As patients rarely achieve LDL-C targets, adjunctive lipoprotein apheresis is recommended where available, preferably started by age 5 and no later than 8 years. The number of therapeutic approaches has increased following approval of lomitapide and mipomersen for HoFH. Given the severity of ACVD, we recommend regular follow-up, including Doppler echocardiographic evaluation of the heart and aorta annually, stress testing and, if available, computed tomography coronary angiography every 5 years, or less if deemed necessary. Conclusion: This EAS Consensus Panel highlights the need for early identification of HoFH patients, prompt referral to specialized centres, and early initiation of appropriate treatment. These recommendations offer guidance for a wide spectrum of clinicians who are often the first to identify patients with suspected HoFH. © The Author 2014.
Thematic Areas: Saúde coletiva Nutrição Medicina iii Medicina ii Medicina i Interdisciplinar General medicine Farmacia Educação física Direito Ciências biológicas ii Ciências biológicas i Cardiology and cardiovascular medicine Cardiac & cardiovascular systems
licence for use: https://creativecommons.org/licenses/by/3.0/es/
Author's mail: luis.masana@urv.cat
Author identifier: 0000-0002-0789-4954
Record's date: 2024-09-07
Papper version: info:eu-repo/semantics/publishedVersion
Licence document URL: https://repositori.urv.cat/ca/proteccio-de-dades/
Papper original source: European Heart Journal. 35 (32): 2146-2157
APA: Cuchel M; Bruckert E; Ginsberg HN; Raal FJ; Santos RD; Hegele RA; Kuivenhoven JA; Nordestgaard BG; Descamps OS; Steinhagen-Thiessen E; Tybjærg-Hansen (2015). Homozygous familial hypercholesterolaemia: New insights and guidance for clinicians to improve detection and clinical management. A position paper fromthe Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. European Heart Journal, 35(32), 2146-2157. DOI: 10.1093/eurheartj/ehu274
Entity: Universitat Rovira i Virgili
Journal publication year: 2015
Publication Type: Journal Publications
Repositori URV