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

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 ge...

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Detalhes bibliográficos
Publicado no:Intern Med
Main Authors: Tanaka, Hiroki, Watanabe, Yuki, Hirano, Shuji, Tada, Hayato, Nomura, Akihiro, Kawashiri, Masa-aki, Takenaga, Makoto
Formato: Artigo
Idioma:Inglês
Publicado em: The Japanese Society of Internal Medicine 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7759703/
https://ncbi.nlm.nih.gov/pubmed/32713907
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.3811-19
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