Homozygous Familial Hypercholesterolemia: Luck Meets Opportunity Meets Knowledge

This case report describes a 67-year-old African-American woman with homozygous familial hypercholesterolemia caused by 2 pathogenic variants in the LDLR gene. Initial surgical, pharmacological, and low-density lipoprotein apheresis interventions were insufficient; the addition of proprotein convert...

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Detalles Bibliográficos
Autores principales: Young, Lisa, Brown, Emily E., Martin, Seth S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9730161/
https://www.ncbi.nlm.nih.gov/pubmed/36507290
http://dx.doi.org/10.1016/j.jaccas.2022.10.005
Descripción
Sumario:This case report describes a 67-year-old African-American woman with homozygous familial hypercholesterolemia caused by 2 pathogenic variants in the LDLR gene. Initial surgical, pharmacological, and low-density lipoprotein apheresis interventions were insufficient; the addition of proprotein convertase subtilisin-kexin type 9 and angiopoietin-like 3 inhibitors lowered her low-density lipoprotein cholesterol to <70 mg/dL. (Level of Difficulty: Advanced.)

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