Allergic immune-mediated hypersensitivity reactions are known potential complications of enzyme replacement therapy. Sebelipase alfa, recombinant lysosomal acid lipase (LAL), is a potentially life-altering treatment for patients with LAL deficiency. There is very little information on the diagnosis and management of immediate hypersensitivity reactions to this drug. Here we present three unique cases of hypersensitivity reactions to sebelipase alfa, spanning a broad age spectrum from infancy to adulthood, each managed with successful rapid desensitization.
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| http://dx.doi.org/10.1002/jmd2.12066 | DOI Listing |
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Lysosomal Acid Lipase Deficiency: A Report of Two Cases and a Review of the Literature.
Cureus
November 2024
Pediatrics, "Carol Davila" University of Medicine and Pharmacy, Bucharest, ROU.
Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive genetic disease arising from mutations in the lipase A, lysosomal acid type (LIPA) gene, characterised by the formation of cholesterol esters and triglyceride storages, primarily in the liver and spleen. By analysing the level of lysosomal acid lipase (LAL), two forms were described in the literature: Wolman disease and cholesteryl-ester storage disease (CESD). Wolman disease usually manifests with rapidly progressive symptoms within the first year of life, while CESD is a latent condition, with significant features appearing later in life.
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August 2024
Unidade de Genética, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Sao Paulo 05403-000, SP, Brazil.
Lysosomal acid lipase deficiency (LALD) varies from a severe infantile-onset form (Wolman disease) to a late-onset form known as cholesteryl ester storage disease (CESD), both of which are autosomal recessive disorders caused by biallelic pathogenic variants. We evaluated seventy-three patients enlisted for liver transplant (LT) at Instituto da Criança (HCFMUSP-Brazil) who were subjected to LAL activity measurement and Sanger sequencing analysis, resulting in a positive LALD diagnosis for only one of these individuals. This LALD patient presented recurrent diarrhea, failure to thrive, hepatomegaly, and dyslipidemia at the age of 4 months and liver failure by the age of 13 years.
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Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK.
Background: Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3-5 mg/kg once weekly. Survival rates in the second of two clinical trials was greater, despite recruiting more severely ill patients, probably related to higher initial and maximal doses. We aimed to evaluate the effective pharmacokinetics and pharmacodynamics of Sebelipase alfa when administered to patients with severe WD at 5 mg/kg twice weekly, an intensive regimen which was not assessed in the trials.
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