• Hiroki Tanaka, Yuki Watanabe, Shuji Hirano, Hayato Tada, Akihiro Nomura, Masa-Aki Kawashiri, and Makoto Takenaga.
• Department of Cardiovascular Medicine, Fujimoto Central Hospital, Japan.
• Intern. Med. 2020 Dec 1; 59 (23): 3033-3037.

AbstractWe 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 heterozygous mutations in the adenosine triphosphate binding cassette subfamily G5 (ABCG5) gene. A comprehensive genetic analysis can be particularly useful for diagnosing cases with severe phenotypes, leading to appropriate and medical therapies. Our patient was refractory to statins, whereas ezetimibe and PCSK9 inhibitor with a low-plant-sterol diet successfully reduced his serum levels of low-density lipoprotein cholesterol.

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