1992 Volume 35 Issue 9 Pages 779-785
A 25-year-old man who presented with eruptive xanthomas, hyperglycemia and hyperlipidemia was admitted to our hospital. Fasting plasma glucose, plasma total cholesterol (T-Ch) and plasma triglyceride (TG) were 286mg/dl, 420mg/dl and 1960mg/dl, respectively. Eruptive xanthomas were observed on his elbows, knees and hip. We diagnosed him as having insulin-dependent diabetes mellitus complicated with type V hyperlipoproteinemia; chylomicronemia syndrome. Following the reduction of plasma glucose level by conventional insulin therapy, T-Ch and TG were decreased and eruptive xanthomas diminished rapidly. Finally his plasma glucose level was normalized without insulin therapy. T-Ch decreased to normal range, but TG was still around 200mg/dl showing mild type IV hyperlipoproteinemia. His mother, who suffered from non-insulin-dependent diabetes mellitus, and his pregnant elder sister showed moderate hypertriglyceridemia. The Apo E isoform of the subject was E3/E3. His lipoprotein lipase (LPL) mass content was reduced to the level of heterozygous LPL deficiency even after normalization of plasma glucose. His parents' LPL mass contents were within normal range.
Although we could not definitely diagnose this subject as having heterozygous LPL deficiency, the insulin-dependent diabetic state seemed to have augmented the genetic hypertriglyceridemia.