Terasaki Fumio, Morita Hideaki, Harada-Shiba Mariko, Ohta Naotaka, Otsuka Kaoru, Nogi Shinpei, Miyamura Masatoshi, Suzuki Shuji, Ito Takahide, Shimomura Hiroaki, Katsumata Takahiro, Miyamoto Yoshihiro, Ishizaka Nobukazu
Department of Cardiology, Osaka Medical College, Japan.
Intern Med. 2013;52(5):577-81. doi: 10.2169/internalmedicine.52.8522. Epub 2013 Mar 1.
We herein report the case of a 53-year-old man with severe coronary ischemia who underwent successful coronary artery bypass surgery. Of note, he had hypercholesterolemia and presented with multiple large tendinous xanthomas and thickened Achilles tendons that had been present for more than two decades. Together with a family history of dyslipidemia, the patient was diagnosed as having familial hypercholesterolemia. Irrespective of an extensive search for possible mutations in the genes presumably involved in the patient's pathophysiology, including low-density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type 9 (PCSK9), autosomal recessive hypercholesterolemia (ARH) and apolipoprotein B (APOB), we were not able to identify the gene mutations responsible for the phenotype observed in the present case.
我们在此报告一例53岁患有严重冠状动脉缺血的男性患者，该患者成功接受了冠状动脉搭桥手术。值得注意的是，他患有高胆固醇血症，出现多个大的肌腱黄色瘤和增厚的跟腱，这些症状已存在二十多年。结合家族性血脂异常病史，该患者被诊断为家族性高胆固醇血症。尽管对可能与患者病理生理相关的基因进行了广泛搜索，包括低密度脂蛋白受体（LDLR）、前蛋白转化酶枯草溶菌素/kexin 9型（PCSK9）、常染色体隐性高胆固醇血症（ARH）和载脂蛋白B（APOB），但我们仍无法确定导致本例所观察到表型的基因突变。
