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The Emerging Battle: Lysosomal Acid Lipase Deficiency vs Familial Hypercholesterolemia in Children

Lysosomal acid lipase is an under-recognized enzyme involved in the modulation and expression of genes that part-take in the synthesis and uptake of cholesterol. We describe the unusual course of a 2-year-old patient who presented with hypercholesterolemia and elevated liver enzymes, initially misdi...

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Detalles Bibliográficos
Autores principales: Saad, Michelle, Syed, Sabeen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7808463/
https://www.ncbi.nlm.nih.gov/pubmed/33457437
http://dx.doi.org/10.14309/crj.0000000000000516
Descripción
Sumario:Lysosomal acid lipase is an under-recognized enzyme involved in the modulation and expression of genes that part-take in the synthesis and uptake of cholesterol. We describe the unusual course of a 2-year-old patient who presented with hypercholesterolemia and elevated liver enzymes, initially misdiagnosed with familial hypercholesterolemia. The absence of a suggestive family history triggered further testing that revealed complete lysosomal acid lipase deficiency that typically presents in infancy as Wolman disease with failure to thrive, malabsorption, and liver failure. Interestingly, the patient's clinical picture suggested cholesteryl ester storage disease instead, a milder phenotype in older patients.