Abstract
Lysosomal Acid Lipase (LAL) is a key enzyme involved in lipid metabolism, responsible for hydrolysing the cholesteryl esters and triglycerides. Wolman Disease represents the early onset phenotype of LAL deficiency rapidly leading to death. Cholesterol Ester Storage Disease is a late onset phenotype that occurs with fatty liver, elevated aminotransferase levels, hepatomegaly and dyslipidaemia, the latter characterized by elevated LDL-C and low HDL-C. The natural history and the clinical manifestations of the LAL deficiency in adults are not well defined, and the diagnosis is often incidental. LAL deficiency has been suggested as an under-recognized cause of dyslipidaemia and fatty liver. Therefore, LAL activity may be reduced also in non-obese patients presenting non-alcoholic fatty liver disease (NAFLD), unexplained persistently elevated liver transaminases or with elevation in LDL cholesterol. In these patients, it could be indicated to test LAL activity. So far, very few studies have been performed to assess LAL activity in representative samples of normal subjects or patients with NAFLD. Moreover, no large study has been carried out in adult subjects with NAFLD or cryptogenic cirrhosis.
Highlights
Non-alcoholic fatty liver disease (NAFLD) is a spectrum of disorders characterized by excessive hepatic fat accumulation that occurs in individuals in the absence of significant alcohol consumption or chronic viral infection
The early stage of NAFLD is represented by simple steatosis, where the main histologic finding is the presence of fatty liver; in some cases simple steatosis my evolve in non-alcoholic steatohepatitis (NASH), where steatosis is associated with hepatocellular injury and inflammation with or without fibrosis
Cholesterol Ester Storage Disease (CESD) is a late onset phenotype that occurs with fatty liver, elevated aminotransferase levels, hepatomegaly and dyslipidaemia characterized by elevated low-density lipoprotein cholesterol (LDL-C) and low high-density lipoprotein cholesterol (HDL-C) with or without triglyceride elevation
Summary
Non-alcoholic fatty liver disease (NAFLD) is a spectrum of disorders characterized by excessive hepatic fat accumulation that occurs in individuals in the absence of significant alcohol consumption or chronic viral infection. The early stage of NAFLD is represented by simple steatosis, where the main histologic finding is the presence of fatty liver; in some cases simple steatosis my evolve in non-alcoholic steatohepatitis (NASH), where steatosis is associated with hepatocellular injury and inflammation with or without fibrosis. NAFLD is the result of many different pathogenic mechanisms which cause lipid accumulation into hepatocytes [3], increased oxidative stress, pro-inflammatory changes [4], and eventually fibrosis in a subset of individuals. NAFLD is a major cause of cryptogenic cirrhosis, whose prevalence has increased over the last years especially in patients with a history of obesity and type 2 diabetes. NAFLD is the third most common indication for liver transplantation in the United States and is projected to eventually overtake the hepatitis C virus and alcoholic liver disease and to become the main cause of liver transplants [5]
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