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

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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Bibliographic Details
Main Authors: Robert Derenbecker, MD, Karan Kapoor, MD, Emily Brown, MGC, CGC, Thorsten Leucker, MD, PhD, Steven R. Jones, MD, Parvez M. Lokhandwala, MD, PhD, Kathleen H. Byrne, CRNP, Seth S. Martin, MD, MHS
Format: Article
Language:English
Published: Elsevier 2019-10-01
Series:JACC: Case Reports
Subjects:
cascade screening
cholesterol
coronary artery disease
Dutch Lipid Clinic
genetics
low-density lipoprotein cholesterol
Online Access:http://www.sciencedirect.com/science/article/pii/S2666084919302608

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http://www.sciencedirect.com/science/article/pii/S2666084919302608

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