Kim Albert S, Hakeem Rashida, Abdullah Azaliya, Hooper Amanda J, Tchan Michel C, Alahakoon Thushari I, Girgis Christian M
Department of Diabetes and Endocrinology, Westmead Hospital, Westmead, New South Wales, Australia.
The University of Sydney, Faculty of Medicine and Health, Sydney, New South Wales, Australia.
Endocrinol Diabetes Metab Case Rep. 2020 Mar 13;2020. doi: 10.1530/EDM-19-0165.
A 19-year-old female presented at 25-weeks gestation with pancreatitis. She was found to have significant hypertriglyceridaemia in context of an unconfirmed history of familial hypertriglyceridaemia. This was initially managed with fasting and insulin infusion and she was commenced on conventional interventions to lower triglycerides, including a fat-restricted diet, heparin, marine oil and gemfibrozil. Despite these measures, the triglyceride levels continued to increase as she progressed through the pregnancy, and it was postulated that she had an underlying lipoprotein lipase defect. Therefore, a multidisciplinary decision was made to commence therapeutic plasma exchange to prevent further episodes of pancreatitis. She underwent a total of 13 sessions of plasma exchange, and labour was induced at 37-weeks gestation in which a healthy female infant was delivered. There was a rapid and significant reduction in triglycerides in the 48 h post-delivery. Subsequent genetic testing of hypertriglyceridaemia genes revealed a missense mutation of the LPL gene. Fenofibrate and rosuvastatin was commenced to manage her hypertriglyceridaemia postpartum and the importance of preconception counselling for future pregnancies was discussed. Hormonal changes in pregnancy lead to an overall increase in plasma lipids to ensure adequate nutrient delivery to the fetus. These physiological changes become problematic, where a genetic abnormality in lipid metabolism exists and severe complications such as pancreatitis can arise. Available therapies for gestational hypertriglyceridaemia rely on augmentation of LPL activity. Where there is an underlying LPL defect, these therapies are ineffective and removal of triglyceride-rich lipoproteins via plasma exchange should be considered.
Hormonal changes in pregnancy, mediated by progesterone,oestrogen and human placental lactogen, lead to a two- to three-fold increase in serum triglyceride levels. Pharmacological intervention for management of gestational hypertriglyceridaemia rely on the augmentation of lipoprotein lipase (LPL) activity to enhance catabolism of triglyceride-rich lipoproteins. Genetic mutations affecting the LPL gene can lead to severe hypertriglyceridaemia. Therapeutic plasma exchange (TPE) is an effective intervention for the management of severe gestational hypertriglyceridaemia and should be considered in cases where there is an underlying LPL defect. Preconception counselling and discussion regarding contraception is of paramount importance in women with familial hypertriglyceridaemia.
一名19岁女性在妊娠25周时出现胰腺炎。在家族性高甘油三酯血症病史未经证实的情况下，发现她有显著的高甘油三酯血症。最初通过禁食和胰岛素输注进行治疗，并开始采用常规干预措施降低甘油三酯，包括低脂饮食、肝素、鱼油和吉非贝齐。尽管采取了这些措施，但随着妊娠进展，甘油三酯水平持续升高，推测她存在潜在的脂蛋白脂肪酶缺陷。因此，做出了多学科决策，开始进行治疗性血浆置换以预防胰腺炎的进一步发作。她总共接受了13次血浆置换，并在妊娠37周时引产，产下一名健康女婴。产后48小时内甘油三酯迅速且显著降低。随后对高甘油三酯血症基因进行的基因检测发现脂蛋白脂肪酶（LPL）基因存在错义突变。产后开始使用非诺贝特和瑞舒伐他汀治疗她的高甘油三酯血症，并讨论了孕前咨询对未来妊娠的重要性。妊娠期间的激素变化导致血浆脂质总体增加，以确保向胎儿充分输送营养。当存在脂质代谢的遗传异常且可能出现胰腺炎等严重并发症时，这些生理变化就会成为问题。妊娠期高甘油三酯血症的现有治疗方法依赖于增强脂蛋白脂肪酶活性。如果存在潜在的脂蛋白脂肪酶缺陷，这些治疗方法无效，应考虑通过血浆置换去除富含甘油三酯的脂蛋白。
由孕酮、雌激素和人胎盘催乳素介导的妊娠激素变化导致血清甘油三酯水平升高两到三倍。妊娠期高甘油三酯血症的药物治疗依赖于增强脂蛋白脂肪酶（LPL）活性，以促进富含甘油三酯脂蛋白的分解代谢。影响脂蛋白脂肪酶基因的基因突变可导致严重的高甘油三酯血症。治疗性血浆置换（TPE）是治疗严重妊娠期高甘油三酯血症的有效干预措施，对于存在潜在脂蛋白脂肪酶缺陷的病例应予以考虑。对于患有家族性高甘油三酯血症的女性，孕前咨询和关于避孕的讨论至关重要。
