Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes

Abstract

Our data indicate that the genetic architecture and natural history of FCS and MCS are different. FCS expressed the most severe clinical phenotype as determined by resistance to triglyceride-lowering medications and higher incidence of acute pancreatitis episodes. The most common genetic abnormality underlying FCS was represented by biallelic mutations in <i>LPL</i> while <i>APOA5</i> variants, in combination with high rare polygenic burden, were the most frequent genotype of MCS.