Article
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.
European heart journal - 21 Aug 2014
Cuchel Marina, Bruckert Eric, Ginsberg Henry N, Raal Frederick J, Santos Raul D, Hegele Robert A, Kuivenhoven Jan Albert, Nordestgaard Børge G, Descamps Olivier S, Steinhagen-Thiessen Elisabeth, Tybjærg-Hansen Anne, Watts Gerald F, Averna Maurizio, Boileau Catherine, Borén Jan, Catapano Alberico L, Defesche Joep C, Hovingh G Kees, Humphries Steve E, Kovanen Petri T, Masana Luis, Pajukanta Päivi, Parhofer Klaus G, Ray Kausik K, Stalenhoef Anton F H, Stroes Erik, Taskinen Marja-Riitta, Wiegman Albert, Wiklund Olov, Chapman M John
Abstract excerpt
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...
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