Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes

This case report describes a 50-year-old-woman from Southeast Asia with extensive atherosclerotic cardiovascular disease, found to have homozygous familial hypercholesterolemia caused by variants of uncertain significance in both the APOB and LDLR genes. Medications were insufficient, and thus LDL a...

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Autores principales: Derenbecker, Robert, Kapoor, Karan, Brown, Emily, Leucker, Thorsten, Jones, Steven R., Lokhandwala, Parvez M., Byrne, Kathleen H., Martin, Seth S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8289100/
https://www.ncbi.nlm.nih.gov/pubmed/34316823
http://dx.doi.org/10.1016/j.jaccas.2019.07.023
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author Derenbecker, Robert
Kapoor, Karan
Brown, Emily
Leucker, Thorsten
Jones, Steven R.
Lokhandwala, Parvez M.
Byrne, Kathleen H.
Martin, Seth S.
author_facet Derenbecker, Robert
Kapoor, Karan
Brown, Emily
Leucker, Thorsten
Jones, Steven R.
Lokhandwala, Parvez M.
Byrne, Kathleen H.
Martin, Seth S.
author_sort Derenbecker, Robert
collection PubMed
description This case report describes a 50-year-old-woman from Southeast Asia with extensive atherosclerotic cardiovascular disease, found to have homozygous familial hypercholesterolemia caused by variants of uncertain significance in both the APOB and LDLR genes. Medications were insufficient, and thus LDL apheresis was initiated to further decrease LDL-C. (Level of Difficulty: Beginner.)
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spelling pubmed-82891002021-07-26 Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes Derenbecker, Robert Kapoor, Karan Brown, Emily Leucker, Thorsten Jones, Steven R. Lokhandwala, Parvez M. Byrne, Kathleen H. Martin, Seth S. JACC Case Rep Case Report This case report describes a 50-year-old-woman from Southeast Asia with extensive atherosclerotic cardiovascular disease, found to have homozygous familial hypercholesterolemia caused by variants of uncertain significance in both the APOB and LDLR genes. Medications were insufficient, and thus LDL apheresis was initiated to further decrease LDL-C. (Level of Difficulty: Beginner.) Elsevier 2019-09-18 /pmc/articles/PMC8289100/ /pubmed/34316823 http://dx.doi.org/10.1016/j.jaccas.2019.07.023 Text en © 2019 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
Derenbecker, Robert
Kapoor, Karan
Brown, Emily
Leucker, Thorsten
Jones, Steven R.
Lokhandwala, Parvez M.
Byrne, Kathleen H.
Martin, Seth S.
Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes
title Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes
title_full Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes
title_fullStr Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes
title_full_unstemmed Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes
title_short Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes
title_sort novel presentation of homozygous familial hypercholesterolemia with homozygous variants in both ldlr and apob genes
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8289100/
https://www.ncbi.nlm.nih.gov/pubmed/34316823
http://dx.doi.org/10.1016/j.jaccas.2019.07.023
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