High-dose ERT, rituximab, and early HSCT in an infant with Wolman’s disease
Publication date
2024-02-15
Authors
Eskandari, Siawosh K.
Revenich, Elisabeth G.M.
Pot, Dirk J.
de Boer, Foekje
Bierings, MB
van Spronsen, Francjan J.
van Hasselt, Peter
Lindemans, Caroline
Lubout, Charlotte M.A.
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Document Type
Article
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taverne
Abstract
Wolman’s disease, a severe form of lysosomal acid lipase deficiency, leads to pathologic lipid accumulation in the liver and gut that, without treatment, is fatal in infancy. Although continued enzyme-replacement therapy (ERT) in combination with dietary fat restriction prolongs life, its therapeutic effect may wane over time. Allogeneic hematopoietic stem-cell transplantation (HSCT) offers a more definitive solution but carries a high risk of death. Here we describe an infant with Wolman’s disease who received high-dose ERT, together with dietary fat restriction and rituximab-based B-cell depletion, as a bridge to early HSCT. At 32 months, the infant was independent of ERT and disease-free, with 100% donor chimerism in the peripheral blood.
Keywords
Taverne, General Medicine
Citation
Eskandari, S K, Revenich, E G M, Pot, D J, de Boer, F, Bierings, M, van Spronsen, F J, van Hasselt, P M, Lindemans, C A & Lubout, C M A 2024, 'High-dose ERT, rituximab, and early HSCT in an infant with Wolman’s disease', New England Journal of Medicine, vol. 390, no. 7, pp. 623-629. https://doi.org/10.1056/NEJMoa2313398