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

Fumio Terasaki; Hideaki Morita; Mariko Harada-Shiba; Naotaka Ohta; Kaoru Otsuka; Shinpei Nogi; Masatoshi Miyamura; Shuji Suzuki; Takahide Ito; Hiroaki Shimomura; Takahiro Katsumata; Yoshihiro Miyamoto; Nobukazu Ishizaka

doi:10.2169/internalmedicine.52.8522

CASE REPORTS

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

Fumio Terasaki, Hideaki Morita, Mariko Harada-Shiba, Naotaka Ohta, Kaoru Otsuka, Shinpei Nogi, Masatoshi Miyamura, Shuji Suzuki, Takahide Ito, Hiroaki Shimomura, Takahiro Katsumata, Yoshihiro Miyamoto, Nobukazu Ishizaka

Author information

Fumio Terasaki
Department of Cardiology, Osaka Medical College, Japan
Hideaki Morita
Department of Cardiology, Osaka Medical College, Japan
Mariko Harada-Shiba
Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Japan
Naotaka Ohta
Laboratory of Molecular Genetics, National Cerebral and Cardiovascular Center Research Institute, Japan
Kaoru Otsuka
Department of Cardiology, Osaka Medical College, Japan
Shinpei Nogi
Department of Cardiology, Osaka Medical College, Japan
Masatoshi Miyamura
Department of Cardiology, Osaka Medical College, Japan
Shuji Suzuki
Department of Cardiology, Osaka Medical College, Japan
Takahide Ito
Department of Cardiology, Osaka Medical College, Japan
Hiroaki Shimomura
Department of Internal Medicine, Arisawa General Hospital, Japan
Takahiro Katsumata
Department of Cardiovascular Surgery, Osaka Medical College, Japan
Yoshihiro Miyamoto
Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Japan
Nobukazu Ishizaka
Department of Cardiology, Osaka Medical College, Japan

Keywords: familial hypercholesterolemia, tendinous xanthomas, coronary artery disease

JOURNAL OPEN ACCESS
Supplementary material

2013 Volume 52 Issue 5 Pages 577-581

DOI https://doi.org/10.2169/internalmedicine.52.8522

Details

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.

Corresponding author

Register with J-STAGE for free!