Author, as appears in the article.: Luis Masana; Marina Cuchel; Eric Bruckert; Henry N. Ginsberg; Frederick J. Raal; Raul D. Santos; Robert A. Hegele; Jan Albert Kuivenhoven; Børge G. Nordestgaard; Olivier S. Descamps; Elisabeth Steinhagen-Thiessen; Anne Tybjærg-Hansen; Gerald F. Watts; Maurizio Averna; Catherine Boileau; Jan Borén; Alberico L. Catapano; Joep C. Defesche; G. Kees Hovingh; Steve E. Humphries; Petri T. Kovanen; Païivi Pajukanta; Klaus G. Parhofer; Kausik K. Ray; Anton F. H. Stalenhoef; Erik Stroes; Marja-Riitta Taskinen; Albert Wiegman; Olov Wiklund; M. John Chapman
Department: Medicina i Cirurgia
URV's Author/s: MASANA MARÍN, LUIS; Marina Cuchel; Eric Bruckert; Henry N. Ginsberg; Frederick J. Raal; Raul D. Santos; Robert A. Hegele; Jan Albert Kuivenhoven; Børge G. Nordestgaard; Olivier S. Descamps; Elisabeth Steinhagen-Thiessen; Anne Tybjærg-Hansen; Gerald F. Watts; Maurizio Averna; Catherine Boileau; Jan Borén; Alberico L. Catapano; Joep C. Defesche; G. Kees Hovingh; Steve E. Humphries; Petri T. Kovanen; Païivi Pajukanta; Klaus G. Parhofer; Kausik K. Ray; Anton F. H. Stalenhoef; Erik Stroes; Marja-Riitta Taskinen; Albert Wiegman; Olov Wiklund; M. John Chapman
Keywords: Homozygous familial hypercholesterolaemia Diagnosis Statins
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.
Research group: Unitat de Recerca de Lípids i Arteriosclerosi
Thematic Areas: Ciències de la salut Ciencias de la salud Health sciences
licence for use: https://creativecommons.org/licenses/by/3.0/es/
ISSN: 1016-5169
Author identifier: N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D; N/D
Record's date: 2016-06-20
Last page: 14
Journal volume: 43
Papper version: info:eu-repo/semantics/publishedVersion
Licence document URL: https://repositori.urv.cat/ca/proteccio-de-dades/
Entity: Universitat Rovira i Virgili
Journal publication year: 2015
First page: 1
Publication Type: Article Artículo Article
Repositori URV