Premature Atherosclerosis in a Japanese Diabetic Patient with Atypical Familial Partial Lipodystrophy and Hypertriglyceridemia

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Author(s)

    • Ebihara Ken
    • Department of Medicine and Clinical Science, Kyoto University Graduate School of Medicine, Japan
    • Kusakabe Toru
    • Department of Medicine and Clinical Science, Kyoto University Graduate School of Medicine, Japan
    • Harada Shinji
    • Diabetes and Endocrine Division, Kusatsu General Hospital, Japan
    • Tsuji Atsushi
    • Department of Neurosurgery, Kusatsu General Hospital, Japan
    • Hosoda Kiminori
    • Department of Medicine and Clinical Science, Kyoto University Graduate School of Medicine, Japan
    • Nakao Kazuwa
    • Department of Medicine and Clinical Science, Kyoto University Graduate School of Medicine, Japan

Abstract

We herein report a case of premature atherosclerosis in a patient with familial partial lipodystrophy (FPL), diabetes mellitus, hypertension and hypertriglyceridemia. Sequencing of the candidate genes <i>LMNA</i>, <i>PPARG</i> and <i>CAV1</i> associated with FPL revealed no genetic abnormalities, which indicated the activity of a novel gene in this patient. The patient's son showed milder fat loss and similar fat distribution compared to the proband; however, the son showed no signs of any atherosclerotic disease. Although a cluster of atherogenic risk factors is likely to be the primary causes of atherosclerosis in our patient, other factors, including an unknown gene associated with FPL, the severity of fat loss and gender, might affect the development of atherosclerosis.<br>

Journal

  • Internal Medicine

    Internal Medicine 51(18), 2573-2579, 2012

    The Japanese Society of Internal Medicine

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