Vomiting, diarrhea, jaundice, and splenomegaly may serve as a starting point to investigate lysosomal acid lipase deficiency (LAL-D), according to a new study by Brazilian researchers.

LAL-D is a rare autosomal recessive disease that is underdiagnosed. It may develop at any time from infancy to adulthood. Because the start of treatment can have a big impact on patients’ quality of life in the long term, it is important to recognize the signs and symptoms of the disease early.

“The diagnosis of LAL-D in children and adolescents must be made early,” wrote Camila da Rosa Witeck and the co-authors of the study that was published in Jornal de Pediatria. They added that familial lymphohistiocytosis should be part of the differential diagnosis of LAL-D and that all patients undergoing upper gastrointestinal endoscopy should be submitted to intestinal biopsy.

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In order to recognize warning signs of LAL-D in children with the disease, the team conducted electronic searches of published articles, dissertations, and theses of observational studies about infants, children, and adolescents diagnosed with LAL-D. The diagnostic mean could be either enzyme activity tests or mutations in the lysosomal acid lipase gene.

In this way, they identified a total of 1593 studies, of which they selected 108 for further analysis. The articles were published between 1970 and 2020 and included 206 patients from 30 different countries.

Hepatomegaly, splenomegaly, anemia, dyslipidemia, and elevated transaminases were the most prevalent manifestations of the disease. According to the authors, simple symptoms such as vomiting, diarrhea, jaundice, and splenomegaly may, therefore, be correlated with the disease and could serve as a starting point to further investigate patients displaying them.

One limitation of the review is that it data about older patients for whom disease onset may have occurred in childhood may have been missed.


Witeck CDR, Schmitz AC, de Oliveira JMD, Porporatti AL, De Luca Canto G, Pires MMS. Lysosomal acid lipase deficiency in pediatric patients: a scoping review. J Pediatr (Rio J). 2021;6:S0021-7557(21)00056-5. doi:10.1016/j.jped.2021.03.003