The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: a rare condition that mimics NAFLD

Lysosomal Acid Lipase Deficiency (LAL-D) is an autosomal recessive disorder caused by mutations in LIPA that manifests as a spectrum of liver disease and dyslipidaemia[1,2]. It is regarded as a rare disorder however recognition of more mild forms of the condition have led to the suggestions that it may represent a significant proportion of patients presenting with non-alcoholic fatty liver disease (NAFLD)[3,4]. Emerging data have also reported reduced lysosomal acid lipase (LAL) activity in association with more advanced NAFLD[5 –8].

Source: Journal of Hepatology - October 10, 2018 Category: Gastroenterology Authors: Anna Carter, Simon Mark Brackley, Jiali Gao, Jake Peter Mann Source Type: research