The Role of Sebelipase Alfa in Treating Lysosomal Acid Lipase Deficiency (LAL-D) - European Medical Journal

The Role of Sebelipase Alfa in Treating Lysosomal Acid Lipase Deficiency (LAL-D)

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Florian Abel,1 Barbara K. Burton,2 Brett Billmeyer3

Dr Abel is a full-time employee of Alexion Pharmaceuticals. In the past 3 years, he has also been employed by Synageva BioPharma and Daiichi Sankyo Europe. Prof Burton has received funding for clinical trials from Biomarin, Shire, Alexion, Ultragenyx, Genzyme, and Cytonet and consulting fees and/or honoraria for speaking from Biomarin, Shire, Alexion, and Genzyme. Brett Billmeyer declares no potential conflicts of interest.


Writing assistance was provided by Laura Maguire, MChem, and Ashfield Healthcare Communications Ltd.


The publication of this article was funded by Alexion. The views and opinions expressed are those of the speakers and not necessarily of Alexion.

EMJ Hepatol. ;4[Suppl 3]:2-9. DOI/10.33590/emjhepatol/10314367.

Each article is made available under the terms of the Creative Commons Attribution-Non Commercial 4.0 License.

Meeting Summary

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.

Click here to view the full prescribing information for Sebelipase alfa.

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