title: Familial hypercholesterolemia with multiple large tendinous xanthomas and advanced coronary artery atherosclerosis.
abstract: 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.
authors: Department of Cardiology, Osaka Medical College, Japan. in3012@poh.osaka-med.ac.jp
authors: Fumio
authors: F
authors: Terasaki
authors: Hideaki
authors: H
authors: Morita
authors: Mariko
authors: M
authors: Harada-Shiba
authors: Naotaka
authors: N
authors: Ohta
authors: Kaoru
authors: K
authors: Otsuka
authors: Shinpei
authors: S
authors: Nogi
authors: Masatoshi
authors: M
authors: Miyamura
authors: Shuji
authors: S
authors: Suzuki
authors: Takahide
authors: T
authors: Ito
authors: Hiroaki
authors: H
authors: Shimomura
authors: Takahiro
authors: T
authors: Katsumata
authors: Yoshihiro
authors: Y
authors: Miyamoto
authors: Nobukazu
authors: N
authors: Ishizaka
mesh_terms: D000125:Achilles Tendon / Q000473:pathology; D000328:Adult; D050197:Atherosclerosis / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D001026:Coronary Artery Bypass; D003324:Coronary Artery Disease / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D008297:Male; D014973:Xanthomatosis / Q000150:complications / Q000175:diagnosis* / Q000601:surgery