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...

Descripción completa

Detalles Bibliográficos
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

Internet

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

Ejemplares similares