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

ABSTRACT:

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 <2% of cases. Medical nutrition therapy is critical for FCS because usual triglyceride- (TG-) lowering medications are ineffective. Therapeutic plasma exchange (TPE) with fresh frozen plasma (FFP) is an option to urgently reduce TG and pancreatitis episodes. Several novel biologics are under development to treat HTG and may provide therapeutic options for FCS in the future.

Objective

We present the challenging care of a 43-year-old man with FCS with apoC-II deficiency and the results of two types of TPE and of invest

SUBMITTER: Ueda M 

PROVIDER: S-EPMC7149354 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature