Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa

Ermelinda Santos Silva; Maja Klaudel-Dreszler; Agnieska Bakuła; Teresa Oliva; Tereza Sousa; Paula Cristina Fernandes; Anna Tylki-Szymańska; Elena Kamenets; Esmeralda Martins; Piotr Socha

doi:10.1016/j.clinre.2018.03.012

Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa

Clin Res Hepatol Gastroenterol. 2018 Oct;42(5):e77-e82. doi: 10.1016/j.clinre.2018.03.012. Epub 2018 Apr 26.

Affiliations

¹ Gastroenterology unit, Pediatrics Division, Child and Adolescent Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto, Largo da Maternidade, 4050-651 Porto, Portugal; Instituto de Ciências Biomédicas Abel Salazar, Porto, Portugal. Electronic address: [email protected].
² Department of Gastroenterology, Hepatology, Nutritional Disorders and Paediatrics, Children's Memorial Health Institute, Warsaw, Poland. Electronic address: [email protected].
³ Department of Gastroenterology, Hepatology, Nutritional Disorders and Paediatrics, Children's Memorial Health Institute, Warsaw, Poland. Electronic address: [email protected].
⁴ Pediatrics Division, Instituto Português de Oncologia do Porto, Portugal. Electronic address: [email protected].
⁵ Laboratorial Hematology Division, Instituto Português de Oncologia, Porto, Portugal. Electronic address: [email protected].
⁶ Pediatric Intensive Care Division, Child and Adolescent Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto, Portugal. Electronic address: [email protected].
⁷ Department of Paediatrics, Nutrition and Metabolic Disorders, Children's Memorial Health Institute, Warsaw, Poland. Electronic address: [email protected].
⁸ Research Centre for Medical Genetics, Moscow, Russia. Electronic address: [email protected].
⁹ Instituto de Ciências Biomédicas Abel Salazar, Porto, Portugal; Metabolic Diseases Unit, Pediatrics Division, Child and Adolescent Department, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto, Portugal. Electronic address: [email protected].
¹⁰ Department of Gastroenterology, Hepatology, Nutritional Disorders and Paediatrics, Children's Memorial Health Institute, Warsaw, Poland. Electronic address: [email protected].

PMID: 29705274
DOI: 10.1016/j.clinre.2018.03.012

Abstract

Two unrelated infants were diagnosed with and initially treated for hemophagocytic lymphohistiocytosis (HLH), but progressed to cholestasis and liver failure. Early onset lysosomal acid lipase deficiency (EO-LAL-D) was suspected due to lymphocytes with cytoplasmic vacuolation and/or adrenal calcifications and confirmed by enzymatic and genetic analysis. Enzyme replacement therapy with sebelipase alfa was implemented, but both children died, despite initial improvement. Since this inborn error of metabolism progresses rapidly in infants, early diagnosis is crucial, and appropriate treatment should be started as soon as possible. The authors suggest that the diagnosis of EO-LAL-D should be considered in infants with symptoms of HLH.

Keywords: Early onset lysosomal acid lipase deficiency; Hemophagocytic lymphohistiocytosis; Hepatosplenomegaly; Neonatal cholestasis; Sebelipase alfa; Wolman disease.

Publication types

Case Reports

MeSH terms

Age of Onset
Female
Humans
Infant, Newborn
Lymphohistiocytosis, Hemophagocytic / etiology
Male
Sterol Esterase / therapeutic use*
Wolman Disease / complications
Wolman Disease / drug therapy*

Substances

Sterol Esterase
Sebelipase alfa