Chylomicronemia Caused by Lipoprotein Lipase Gene Mutation Related to a Hyper-response of Insulin Secretion to Glucose

Shu TANAKA; Yoshihiro TANABE; Hideki TAMURA; Shinya ISHII; Yuji SHUTO; Jun KAMEGAI; Hitoshi SUGIHARA; Masafumi KOBAYASHI; Ichiji WAKABAYASHI; Takeyoshi MURANO; Koji SHIRAI; Shinichi OIKAWA

doi:10.2169/internalmedicine.41.300

Shu TANAKA, Yoshihiro TANABE, Hideki TAMURA, Shinya ISHII, Yuji SHUTO, Jun KAMEGAI, Hitoshi SUGIHARA, Masafumi KOBAYASHI, Ichiji WAKABAYASHI, Takeyoshi MURANO, Koji SHIRAI, Shinichi OIKAWA

Author information

Shu TANAKA
The Third Department of Internal Medicine, Nippon Medical School
Yoshihiro TANABE
The Department of Internal Medicine, Shimodate-Shimin Hospital
Hideki TAMURA
The Third Department of Internal Medicine, Nippon Medical School
Shinya ISHII
The Third Department of Internal Medicine, Nippon Medical School
Yuji SHUTO
The Third Department of Internal Medicine, Nippon Medical School
Jun KAMEGAI
The Third Department of Internal Medicine, Nippon Medical School
Hitoshi SUGIHARA
The Third Department of Internal Medicine, Nippon Medical School
Masafumi KOBAYASHI
The Third Department of Internal Medicine, Nippon Medical School
Ichiji WAKABAYASHI
The Third Department of Internal Medicine, Nippon Medical School
Takeyoshi MURANO
Clinical Laboratory Medicine, Sakura Hospital, School of Medicine, Toho University
Koji SHIRAI
Clinical Laboratory Medicine, Sakura Hospital, School of Medicine, Toho University
Shinichi OIKAWA
The Third Department of Internal Medicine, Nippon Medical School

Keywords: lipoprotein lipase (LPL) deficiency, chylomicron, hypertriglyceridemia, familial chylomicronemia

JOURNAL FREE ACCESS

2002 Volume 41 Issue 4 Pages 300-303

DOI https://doi.org/10.2169/internalmedicine.41.300

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Abstract

A 39-year-old man with lipoprotein lipase (LPL) deficiency (height 177.7 cm, body weight 67 kg, and body mass index 21.2 kg/m²) showed severe hypertriglyceridemia (2, 032 mg/dl). LPL activity and concentration were markedly low in postheparin plasma. LPL gene analysis revealed a homozygous mutation, Asp204 → Glu in exon 5. Fasting plasma glucose (81 mg/dl) and insulin (2.7 (μU/ml) levels were normal. Plasma glucose pattern during oral glucose (75 g) tolerance test was normal, however 30 minutes after glucose-loading the insulin secretion unexpectedly increased to 89.4 μU/ml. These data suggested that chylomicronemia might be related to a hyper-response of insulin secretion to glucose without obesity.
(Internal Medicine 41: 300-303, 2002)

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