Lysosomal acid lipase deficiency in pediatric patients: a scoping review

• Published in: Jornal de pediatria 2022-01, Vol.98 (1), p.4-14
• Main Authors: Witeck, Camila da Rosa, Schmitz, Anne Calbusch, de Oliveira, Júlia Meller Dias, Porporatti, André Luís, De Luca Canto, Graziela, Pires, Maria Marlene de Souza
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Child; Cholesterol Ester Storage Disease - diagnosis; Cholesterol Ester Storage Disease - drug therapy; Cholesterol Ester Storage Disease - genetics; Cholesteryl ester storage disease; Hepatomegaly; Humans; Infant; Lysosomal acid lipase deficiency; PEDIATRICS; Review; Sterol Esterase - genetics; Sterol Esterase - therapeutic use; Wolman disease; Wolman Disease - diagnosis; Wolman Disease - genetics
• ISSN: 0021-7557; 1678-4782; 1678-4782
• DOI: 10.1016/j.jped.2021.03.003

Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival. The objective of this article is to recognize warning signs among the clinical and laboratory characteristics of LAL-D in pediatric patients through a scope review. Electronic searches in the Embase, PubMed, Livivo, LILACS, Web of Science, Scopus, Google Scholar, Open Gray, and ProQuest Dissertations and Theses databases. The dataset included observational studies with clinical and laboratory characteristics of infants, children and adolescents diagnosed with lysosomal acid lipase deficiency by enzyme activity testing or analysis of mutations in the lysosomal acid lipase gene (LIPA). The reference selection process was performed in two stages. The references were selected by two authors, and the data were extracted in June 2020. The initial search returned 1593 studies, and the final selection included 108 studies from 30 countries encompassing 206 patients, including individuals with Wolman disease and cholesteryl ester storage disease (CESD). The most prevalent manifestations in both spectra of the disease were hepatomegaly, splenomegaly, anemia, dyslipidemia, and elevated transaminases. Vomiting, diarrhea, jaundice, and splenomegaly may be correlated, and may serve as a starting point for investigating LAL-D. Familial lymphohistiocytosis should be part of the differential diagnosis with LAL-D, and all patients undergoing upper gastrointestinal endoscopy should be submitted to intestinal biopsy.