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

By M. Cuchel, E. Bruckert, H. Ginsberg, F. Raal, R. Santos, R. Hegele, J. Kuivenhoven, Børge G. Nordestgaard, O. Descamps, E. Steinhagen-Thiessen and 20 more. European Heart Journal, 2014

765 citations recorded by the source corpus.

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.

Subfields: Cardiology and Cardiovascular Medicine, Surgery

View Paper: https://www.semanticscholar.org/paper/64cc9dc7f57f36ab847b105191b66012b7a60eac

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Citations in the corpus

Interpretation of the evidence for the efficacy and safety of statin therapy. (2016, background): “elevations of LDL cholesterol concentrations (in particular, LDL receptor mutations) are associated with substantially elevated rates of atherosclerotic disease.(167,168) Moreover, these disorders (i.”
2016 ESC/EAS Guidelines for the Management of Dyslipidaemias. (2016, background): “For a more detailed discussion of HoFH, including the role of PCSK9 inhibitors and the microsomal triglyceride transfer protein (MTP) inhibitor lomitapide, see the EAS consensus paper on HoFH.(302)”
Familial hypercholesterolemia (2011, neutral): “Adapted from the NCEP expert panel on cholesterol levels in children (14)”
Fasting is not routinely required for determination of a lipid profile: clinical and laboratory implications including flagging at desirable concentration cut-points—a joint consensus statement from the European Atherosclerosis Society and European Federation of Clinical Chemistry and Laboratory Med (2016, background): “LDL cholesterol >13 mmol/L Homozygous familial hypercholesterolemia with extremely high cardiovascular risk (44)”