Lysosomal acid lipase deficiency (LAL-D), historically known as Wolman’s disease or cholesteryl ester storage disease, is a severe, underdiagnosed, and rare disease associated with significant morbidity and premature mortality. LAL is involved in lipid hydrolysis, and deficiency induces lipid metabolism abnormalities, which affect multiple organ systems including the liver, cardiovascular system, spleen, and gastrointestinal (GI) system.
The most rapidly progressive cases of LAL-D are apparent during infancy. In these cases, the disease progresses very rapidly and is likely to be fatal within the first 6 months of life. At the same time, LAL-D can also progress less rapidly, in which case clinically severe manifestations may not be observed until later in childhood or adulthood. Low awareness of the disease contributes to under and misdiagnosis of LAL-D.
LAL-D can be difficult to distinguish from other conditions as the signs and symptoms are non-specific and overlap with more commonly occurring liver or lipid abnormalities such as heterozygous familial hypercholesterolaemia and non-alcoholic fatty liver disease (NAFLD). When LAL-D is suspected, it can be rapidly diagnosed using a dry blood spot enzymatic test.
Sebelipase alfa is a LAL enzyme replacement. It is the first drug therapy for the treatment of LAL-D and was recently approved in the European Union and the USA. Sebelipase alfa has been shown to both improve survival and slow disease-progression markers in patients with LAL-D.
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