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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Detalles Bibliográficos
Autores principales: Tanaka, Hiroki, Watanabe, Yuki, Hirano, Shuji, Tada, Hayato, Nomura, Akihiro, Kawashiri, Masa-aki, Takenaga, Makoto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7759703/
https://www.ncbi.nlm.nih.gov/pubmed/32713907
http://dx.doi.org/10.2169/internalmedicine.3811-19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7759703/
https://www.ncbi.nlm.nih.gov/pubmed/32713907
http://dx.doi.org/10.2169/internalmedicine.3811-19

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