Homozygous Familial Hypercholesterolemia : Luck Meets Opportunity Meets Knowledge

ABSTRACT: 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.) Central Illustration

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PROVIDER: S-EPMC9730161 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature