Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

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ID: 299415
2014
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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 of HoFH and 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 comprehensive ACVD evaluation 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.
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Authors Marina Cuchel, Éric Bruckert, Henry N. Ginsberg, Frederick J. Raal, Raúl D. Santos, Robert A. Hegele, Jan Albert Kuivenhoven, Børge G. Nordestgaard, Olivier Descamps, Elisabeth Steinhagen‐Thiessen, Anne Tybjærg‐Hansen, Gerald F. Watts, Maurizio Averna, Cathérine Boileau, Jan Borén, Alberico L. Catapano, Joep C. Defesche, G. Kees Hovingh, Steve E. Humphries, Petri T. Kovanen, L. Masana, P. Pajukanta, Klaus G. Parhofer, Kausik K. Ray, Anton F. H. Stalenhoef, Erik S.G. Stroes, Marja‐Riitta Taskinen, Albert Wiegman, Olov Wiklund, M. John Chapman, Marina Cuchel, Éric Bruckert, M. John Chapman, Olivier Descamps, Henry N. Ginsberg, Robert A. Hegele, Jan Albert Kuivenhoven, Børge G. Nordestgaard, Frederick J. Raal, Raúl D. Santos, Elisabeth Steinhagen‐Thiessen, Anne Tybjærg‐Hansen, Gerald F. Watts, M. John Chapman, Henry N. Ginsberg, Maurizio Averna, Cathérine Boileau, Jan Borén, Alberico L. Catapano, Joep C. Defesche, G. Kees Hovingh, Steve E. Humphries, Petri T. Kovanen, L. Masana, P. Pajukanta, Klaus G. Parhofer, Kausik K. Ray, Anton F. H. Stalenhoef, Erik S.G. Stroes, Marja‐Riitta Taskinen, Albert Wiegman, Olov Wiklund
Journal european heart journal
Year 2014
DOI
10.1093/eurheartj/ehu274
URL
https://doi.org/10.1093/eurheartj/ehu274
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