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Lysosomal acid lipase deficiency disease (LALD; MIM#278000) is an ultrarare lysosomal storage disease with a wide range of phenotypic variability. It is caused by the deficient activity of lysosomal acid lipase (LAL) enzyme, encoded by  LIPA . Consequently, it leads to the buildup of cholesterol esters and triglycerides within the lysosomes, in the liver, spleen, adrenal glands, intestinal wall, and vascular tree. Early diagnosis is important to avoid progressive impaired liver function and an elevated risk of cardiovascular complications. A systematic review has been carried out in accordance with the Preferred Reporting Items for Systematic Review and Meta Analyses (PRISMA) guidelines. All original articles and review articles published up to December 2021 about the diagnosis and follow-up of lysosomal acid lipase deficiency, Wolman disease, acid cholesterol ester hydrolase deficiency, and cholesterol ester hydrolase deficiency storage disease were reviewed by three independent researchers. A total of 169 articles were included. The identification of LALD by activity determination techniques using a dry blood spot has facilitated rapid and accurate diagnosis in screening programs. It is important to reduce the mortality associated with severe phenotypes and morbi-mortality in mild phenotypes, since safe and effective enzyme replacement therapy is available.

Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency