Homozygous Familial Hypercholesterolemia: Luck Meets Opportunity Meets Knowledge.
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ABSTRACT:
SUBMITTER: Young L
PROVIDER: S-EPMC9730161 | biostudies-literature | 2022 Dec
REPOSITORIES: biostudies-literature
Publications
Homozygous Familial Hypercholesterolemia: Luck Meets Opportunity Meets Knowledge.
Young Lisa L Brown Emily E EE Martin Seth S SS
JACC. Case reports 20221108 23
This case report describes a 67-year-old African-American woman with homozygous familial hypercholesterolemia caused by 2 pathogenic variants in the <i>LDLR</i> 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. (<b>Level of Difficulty: Advanced.</b>). ...[more]
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