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

CONCLUSIONS: 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 mutation in LPL while APOA5 variants, in combination with high rare polygenic burden, were the most frequent genotype of MCS. PMID: 31619059 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/31619059?dopt=Abstract

Source: Arteriosclerosis, Thrombosis and Vascular Biology - October 16, 2019 Category: Cardiology Authors: D'Erasmo L, Di Costanzo A, Cassandra F, Minicocci I, Polito L, Montali A, Ceci F, Arca M Tags: Arterioscler Thromb Vasc Biol Source Type: research