Experimental Therapeutics for Challenging Clinical Care of a Patient with an Extremely Rare Homozygous APOC2 Mutation

Autor: Masako Ueda, Anna Wolska, Frances M. Burke, Maria Escobar, Laura Walters, Dusanka Lalic, Robert A. Hegele, Alan T. Remaley, Daniel J. Rader, Richard L. Dunbar
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Case Reports in Endocrinology, Vol 2020 (2020)
Druh dokumentu: article
ISSN: 2090-6501
2090-651X
DOI: 10.1155/2020/1865489
Popis: Background. Among many causes of hypertriglyceridemia (HTG), familial chylomicronemia syndrome (FCS) is a rare monogenic disorder that manifests as severe HTG and acute pancreatitis. Among the known causal genes for FCS, mutations in APOC2 only account for 90% post-sessions and appeared to reduce pancreatitis episodes. Experimental ANGPTL3 and APOC3 inhibitors each lowered TG by >50%. Conclusions. Our case demonstrates the importance of delineating and defining the underlying etiology of a rare disorder to optimize therapy and to minimize unfavorable outcomes.
Databáze: Directory of Open Access Journals
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