Familial Hypercholesterolemia with Multiple Large Tendinous Xanthomas and Advanced Coronary Artery Atherosclerosis

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概要

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• 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.

著者

• Miyamoto Yoshihiro

  Department of Arthelosclerosis and Diabetes Melitus, National Cardiovacular Center Research Institut

• Harada-shiba Mariko

  Department Of Bioscience National Cardiovascular Center Research Institute

• Ohta Naotaka

  Laboratory Of Clinical Genetics National Cardiovascular Center

• Shimomura Hiroaki

  Department Of Chemical Engineering Kyoto University

• Suzuki Shuji

  Department Of Gastroenterology Hachioji Digestive Disease Hospital

• Morita Hideaki

  Department Of Allergy And Immunology National Research Institute For Child Health And Development Ju

• Katsumata Takahiro

  Department Of Cardiothoracic Surgery Osaka Medical College Hospital

• Miyamura Masatoshi

  Department Of Cardiology Osaka Medical College

• Terasaki Fumio

  Department Of Cardiology Osaka Medical College

• Ishizaka Nobukazu

  Department Of Cardiology Osaka Medical College

• Otsuka Kaoru

  Department of Cardiology, Osaka Medical College, Japan

• Nogi Shinpei

  Department of Cardiology, Osaka Medical College, Japan

• Ito Takahide

  Department of Cardiology, Osaka Medical College, Japan

• Harada-Shiba Mariko

  Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Japan

• Ohta Naotaka

  Laboratory of Molecular Genetics, National Cerebral and Cardiovascular Center Research Institute, Japan

• Suzuki Shuji

  Department of Cardiology, Osaka Medical College, Japan

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