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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Intern Med
Hlavní autoři: Tanaka, Hiroki, Watanabe, Yuki, Hirano, Shuji, Tada, Hayato, Nomura, Akihiro, Kawashiri, Masa-aki, Takenaga, Makoto
Médium: Artigo
Jazyk:Inglês
Vydáno: The Japanese Society of Internal Medicine 2020
Témata:
Case Report
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky