ArticleACG case reports journal2021
The Emerging Battle: Lysosomal Acid Lipase Deficiency vs Familial Hypercholesterolemia in Children.
Article in ACG case reports journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
2 authors.
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Abstract
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.
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