Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".

doi:10.1016/j.atherosclerosis.2018.06.814

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Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".

Atherosclerosis - 1 Aug 2018

Moulin Philippe, Dufour Robert, Averna Maurizio, Arca Marcello, Cefalù Angelo B, Noto Davide, D'Erasmo Laura, Di Costanzo Alessia, Marçais Christophe, Alvarez-Sala Walther Luis Antonio, Banach Maciej, Borén Jan, Cramb Robert, Gouni-Berthold Ioanna, Hughes Elizabeth, Johnson Colin, Pintó Xavier, Reiner Željko, van Lennep Jeanine Roeters, Soran Handrean, Stefanutti Claudia, Stroes Erik, Bruckert Eric

Abstract excerpt

Familial chylomicronaemia syndrome (FCS) is a rare, inherited disorder characterised by impaired clearance of triglyceride (TG)-rich lipoproteins from plasma, leading to severe hypertriglyceridaemia (HTG) and a markedly increased risk of acute pancreatitis. It is due to the lack of lipoprotein lipase (LPL) function, resulting from recessive loss of function mutations in the genes coding LPL or its modulators. A...

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PMID: 29980054
DOI: 10.1016/j.atherosclerosis.2018.06.814

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