McLean Anna G, Petersons Carolyn J, Hooper Amanda J, Burnett John R, Burt Morton G, Doogue Matthew P
Southern Adelaide Diabetes and Endocrine Services, Southern Adelaide Health Services, Adelaide, Australia.
Clin Chim Acta. 2009 Aug;406(1-2):167-9. doi: 10.1016/j.cca.2009.05.003. Epub 2009 May 15.
Diabetic lipaemia, severe hypertriglyceridaemia associated with diabetic ketoacidosis, is a well recognised, but rare condition. Why this occurs in some patients and not others is unknown. We report a case of extreme lipaemia in a 20-year-old woman with type 1 diabetes who presented to hospital with diabetic ketoacidosis (DKA). At admission the patient's blood was grossly lipaemic and plasma lipid analyses showed triglyceride and cholesterol concentrations of 379 mmol/L and 52 mmol/L, respectively. She had no peripheral stigmata of chronic hyperlipidaemia and 1 year previously her plasma triglyceride and total cholesterol concentrations were 2.5 mmol/L and 4.4 mmol/L respectively. She was treated with insulin and the hypertriglyceridaemia resolved over several days. Because of the marked hypertriglyceridaemia, lipoprotein lipase (LPL) genetic testing was performed. Sequencing of the LPL gene revealed that she was heterozygous for the common S447X LPL variant and heterozygous for a novel missense mutation in exon five (I225N). Ile(225) is highly conserved among species and this mutation is predicted to impair function of the mature LPL protein. We conclude that heterozygosity for LPL mutations may predispose to transient severe hypertriglyceridaemia, when combined with insulin deficiency.
糖尿病性脂血症是一种与糖尿病酮症酸中毒相关的严重高甘油三酯血症，是一种已被充分认识但罕见的病症。为何在某些患者中出现而在其他患者中不出现尚不清楚。我们报告了一例1型糖尿病20岁女性患者出现极度脂血症并因糖尿病酮症酸中毒（DKA）入院的病例。入院时患者血液严重脂血，血浆脂质分析显示甘油三酯和胆固醇浓度分别为379 mmol/L和52 mmol/L。她没有慢性高脂血症的外周体征，1年前其血浆甘油三酯和总胆固醇浓度分别为2.5 mmol/L和4.4 mmol/L。她接受了胰岛素治疗，高甘油三酯血症在数天内得到缓解。由于显著的高甘油三酯血症，进行了脂蛋白脂肪酶（LPL）基因检测。LPL基因测序显示，她对于常见的S447X LPL变异是杂合子，对于外显子5中的一个新的错义突变（I225N）也是杂合子。Ile(225)在物种间高度保守，预计该突变会损害成熟LPL蛋白的功能。我们得出结论，当与胰岛素缺乏相结合时，LPL突变的杂合性可能易导致短暂性严重高甘油三酯血症。
