Lysosomal acid lipase deficiency can lead to liver failure and early death. A recently published placebo-controlled trial shows that enzyme-replacement therapy improves plasma levels of lipids and aminotransferases, and reduces liver fat content. However, the effect on clinical end points and an appropriate indication for treatment remain to be established.
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References
Winchester, B. in Lysosomal Storage Disorders: A Practical Guide Ch. 5 (eds Mehta, A. & Winchester, B.) 37–48 (Wiley-Blackwell, 2012).
[No authors listed] Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. JAMA 275, 548–553 (1996).
Weinreb, N. J. et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin. Hematol. 41 (4 Suppl. 5), 15–22 (2004).
Cox, T. M. Innovative treatments for lysosomal diseases. Best Pract. Res. Clin. Endocrinol. Metab. 29, 275–311 (2015).
Burton, B. K. et al. A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency. N. Engl. J. Med. 373, 1010–1020 (2015).
Bernstein, D. L., Hülkova, H., Bialer, M. G. & Desnick, R. J. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J. Hepatol. 58, 1230–1243 (2013).
Hulková, H. & Elleder, M. Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens. Histopathology 60, 1107–1113 (2012).
Hollak, C. E., Aerts, J. M., Aymé, S. & Manuel, J. Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders. Orphanet J. Rare Dis. 6, 16 (2011).
Stitziel, N. O. et al. Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. Arterioscler. Thromb. Vasc. Biol. 33, 2909–2914 (2013).
Rader, D. J. Lysosomal acid lipase deficiency—a new therapy for a genetic lipid disease. N. Engl. J. Med. 373, 1071–1073 (2015).
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C.E.M.H. declares that the Academic Medical Center (AMC), Amsterdam, Netherlands, has received educational and research grants from Genzyme and Shire, and that she is an advisor for the Dutch Medicines Evaluation Board (CBG–MEB). G.K.H. declares that the Academic Medical Center (AMC), Amsterdam, Netherlands, has received grant support for clinical trials and consulting fees and/or honoraria from Amgen, Pfizer, Sanofi and Synageva.
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Hollak, C., Hovingh, G. Lysosomal acid lipase deficiency—a cautious leap forward. Nat Rev Endocrinol 11, 696–697 (2015). https://doi.org/10.1038/nrendo.2015.182
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DOI: https://doi.org/10.1038/nrendo.2015.182