Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia.

ABSTRACT:

Background and aims

Hypertriglyceridemia is a common feature of metabolic syndrome (MetS), as well as of non-alcoholic fatty liver disease (NAFLD), which is considered the hepatic manifestation of MetS. Fat accumulation in hepatocytes may alter mitochondrial homeostasis predisposing to advanced liver disease. Here, we report a case of a 40-year-old woman with early aggressive NAFLD due to severe hypertriglyceridemia that ensued from a combination of genetic variants and additional metabolic risk factors.

Methods

Genetic screening was performed by using whole-exome sequencing (WES), and mitochondrial structures were evaluated by TEM.

Results

At presentation, the patient is reported to have hepatomegaly, hypertriglyceridemia, and raised transaminases. Genetic analysis r

SUBMITTER: Meroni M 

PROVIDER: S-EPMC9521372 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature