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Article

Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous ABCG5 Gene Mutations Treated with Ezetimibe and Alirocumab.

Internal medicine (Tokyo, Japan) - 1 Dec 2020

Tanaka Hiroki, Watanabe Yuki, Hirano Shuji, Tada Hayato, Nomura Akihiro, Kawashiri Masa-Aki, Takenaga Makoto

Abstract excerpt

We herein report a rare case presenting with severe hypercholesterolemia, massive Achilles tendon xanthomas, and multi-vessel coronary artery disease. Initially, the patient was misdiagnosed with familial hypercholesterolemia. However, a genetic analysis using our custom sequencing panel covering genes associated with Mendelian lipid disorders revealed him to have a genetic basis of sitosterolemia with compound...

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Identifiers

PMID: 32713907
DOI: 10.2169/internalmedicine.3811-19
PMCID: PMC7759703

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous ABCG5 Gene Mutations Treated with Ezetimibe and Alirocumab.PMID 32713907Read ↗

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