Autor segons l'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
Departament: Medicina i Cirurgia
Autor/s de la URV: Masana Marín, Luis
Paraules clau: 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
Resum: 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.
Àrees temàtiques: 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
Accès a la llicència d'ús: https://creativecommons.org/licenses/by/3.0/es/
Adreça de correu electrònic de l'autor: luis.masana@urv.cat
Data d'alta del registre: 2024-09-07
Versió de l'article dipositat: info:eu-repo/semantics/publishedVersion
Enllaç font original: https://academic.oup.com/eurheartj/article/35/32/2146/2481389?login=false
URL Document de llicència: https://repositori.urv.cat/ca/proteccio-de-dades/
Referència a l'article segons font original: European Heart Journal. 35 (32): 2146-2157
Referència de l'ítem segons les normes 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
DOI de l'article: 10.1093/eurheartj/ehu274
Entitat: Universitat Rovira i Virgili
Any de publicació de la revista: 2015
Tipus de publicació: Journal Publications
Repositori URV