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

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 EarlydiagnosisofHoFHandpromptinitiationofdietandlipid-loweringtherapyarecritical.Genetictestingmayprovidea 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 thatpatients with suspected HoFH arepromptly referred to specialistcentres foracomprehensiveACVDevaluationandclinicalmanagement.Lifestyleinterventionandmaximalstatintherapyarethemainstaysof treatment, ideally started in the first year of life or at an initial diagnosis, often with ezetimibe and other lipid-modifying