Division of Endocrinology, Department of Internal Medicine, Hallym University College of Medicine, Hwaseong, Korea.
Korean J Intern Med. 2013 Sep;28(5):609-13. doi: 10.3904/kjim.2013.28.5.609. Epub 2013 Aug 14.
We report the case of a patient who experienced extreme recurrent gestational hyperlipidemia. She was diagnosed with partial lipoprotein lipase (LPL) deficiency but without an associated LPL gene mutation in the presence of the apolipoprotein E3/2 genotype. This is the first reported case of extreme gestational hyperlipidemia with a partial LPL deficiency in the absence of an LPL gene mutation and the apolipoprotein E 3/2 genotype. She was managed with strict dietary control and medicated with omega-3 acid ethyl esters. A patient with extreme hyperlipidemia that is limited to the gestational period should be considered partially LPL-deficient. Extreme instances of hyperlipidemia increase the risk of acute pancreatitis, and the effect of parturition on declining plasma lipid levels can be immediate and dramatic. Therefore, decisions regarding the timing and route of delivery with extreme gestational hyperlipidemia are critical and should be made carefully.
我们报告了一例极端复发性妊娠高脂血症患者。她被诊断为部分脂蛋白脂肪酶(LPL)缺乏症,但在载脂蛋白 E3/2 基因型存在的情况下没有相关的 LPL 基因突变。这是首例报道的极端妊娠高脂血症与部分 LPL 缺乏症、无 LPL 基因突变和载脂蛋白 E3/2 基因型相关的病例。她通过严格的饮食控制和服用ω-3 酸乙酯进行治疗。对于仅局限于妊娠期的严重高脂血症患者,应考虑部分 LPL 缺乏症。严重的高脂血症会增加急性胰腺炎的风险,分娩对降低血浆脂质水平的影响可能是即时和显著的。因此,对于严重妊娠高脂血症患者的分娩时机和方式的决策至关重要,应慎重考虑。