Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia

Lysosomal acid lipase deficiency (LAL-D) is underrecognized because it manifests clinically with lipid and lipoprotein values similar to those observed in heterozygous familial hypercholesterolemia (FH). Although LAL-D is uncommon, understanding the differences between the 2 diseases has significant...

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Detalles Bibliográficos
Autores principales: Sheth, Sohum, Toth, Peter P., Baum, Seth J., Aggarwal, Monica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10589441/
https://www.ncbi.nlm.nih.gov/pubmed/37869222
http://dx.doi.org/10.1016/j.jaccas.2023.102023
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author Sheth, Sohum
Toth, Peter P.
Baum, Seth J.
Aggarwal, Monica
author_facet Sheth, Sohum
Toth, Peter P.
Baum, Seth J.
Aggarwal, Monica
author_sort Sheth, Sohum
collection PubMed
description Lysosomal acid lipase deficiency (LAL-D) is underrecognized because it manifests clinically with lipid and lipoprotein values similar to those observed in heterozygous familial hypercholesterolemia (FH). Although LAL-D is uncommon, understanding the differences between the 2 diseases has significant management implications. We present a case of LAL-D that masqueraded as FH. (Level of Difficulty: Advanced.)
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spelling pubmed-105894412023-10-22 Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia Sheth, Sohum Toth, Peter P. Baum, Seth J. Aggarwal, Monica JACC Case Rep Case Report Lysosomal acid lipase deficiency (LAL-D) is underrecognized because it manifests clinically with lipid and lipoprotein values similar to those observed in heterozygous familial hypercholesterolemia (FH). Although LAL-D is uncommon, understanding the differences between the 2 diseases has significant management implications. We present a case of LAL-D that masqueraded as FH. (Level of Difficulty: Advanced.) Elsevier 2023-09-16 /pmc/articles/PMC10589441/ /pubmed/37869222 http://dx.doi.org/10.1016/j.jaccas.2023.102023 Text en © 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Sheth, Sohum
Toth, Peter P.
Baum, Seth J.
Aggarwal, Monica
Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia
title Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia
title_full Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia
title_fullStr Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia
title_full_unstemmed Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia
title_short Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia
title_sort distinguishing lysosomal acid lipase deficiency from familial hypercholesterolemia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10589441/
https://www.ncbi.nlm.nih.gov/pubmed/37869222
http://dx.doi.org/10.1016/j.jaccas.2023.102023
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