Eur Heart J. 2014 Jul 22. pii: ehu274. [Epub ahead of print]
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.
Cuchel M1, Bruckert E2, Ginsberg HN2, Raal FJ2, Santos RD2, Hegele RA2, Kuivenhoven JA2, Nordestgaard BG2, Descamps OS2, Steinhagen-Thiessen E2,Tybjærg-Hansen A2, Watts GF2, Averna M2, Boileau C2, Borén J2, Catapano AL2, Defesche JC2, Hovingh GK2, Humphries SE2, Kovanen PT2, Masana L2,Pajukanta P2, Parhofer KG2, Ray KK2, Stalenhoef AF2, Stroes E2, Taskinen MR2, Wiegman A2, Wiklund O2, Chapman MJ2; for the European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia.
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.
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. Published by Oxford University Press on behalf of the European Society of Cardiology.
Diagnosis; Ezetimibe; Genetics; Homozygous familial hypercholesterolaemia; Lipoprotein apheresis; Lomitapide; Mipomersen; Phenotypic heterogeneity; Statins
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