Ueda Masako, Wolska Anna, Burke Frances M, Escobar Maria, Walters Laura, Lalic Dusanka, Hegele Robert A, Remaley Alan T, Rader Daniel J, Dunbar Richard L
Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Lipoprotein Metabolism Laboratory, NHLBI, National Institutes of Health, Bethesda, MD, USA.
Case Rep Endocrinol. 2020 Mar 27;2020:1865489. doi: 10.1155/2020/1865489. eCollection 2020.
Among many causes of hypertriglyceridemia (HTG), familial chylomicronemia syndrome (FCS) is a rare monogenic disorder that manifests as severe HTG and acute pancreatitis. Among the known causal genes for FCS, mutations in only account for <2% of cases. Medical nutrition therapy is critical for FCS because usual triglyceride- (TG-) lowering medications are ineffective. Therapeutic plasma exchange (TPE) with fresh frozen plasma (FFP) is an option to urgently reduce TG and pancreatitis episodes. Several novel biologics are under development to treat HTG and may provide therapeutic options for FCS in the future.
We present the challenging care of a 43-year-old man with FCS with apoC-II deficiency and the results of two types of TPE and of investigational TG-lowering biologic therapies.
The patient's lipid profile was consistent with FCS. A novel homozygous variant was identified in , and its pathogenicity was confirmed. Even on a fat-restricted diet, his care was tremendously complicated with unremitting bouts of pancreatitis. TPE with FFP replacement lowered TG >90% post-sessions and appeared to reduce pancreatitis episodes. Experimental ANGPTL3 and inhibitors each lowered TG by >50%.
Our case demonstrates the importance of delineating and defining the underlying etiology of a rare disorder to optimize therapy and to minimize unfavorable outcomes.
在高甘油三酯血症（HTG）的众多病因中，家族性乳糜微粒血症综合征（FCS）是一种罕见的单基因疾病，表现为严重的HTG和急性胰腺炎。在已知的FCS致病基因中，只有 中的突变占病例的比例不到2%。医学营养治疗对FCS至关重要，因为常用的降低甘油三酯（TG）的药物无效。用新鲜冷冻血浆（FFP）进行治疗性血浆置换（TPE）是紧急降低TG和减少胰腺炎发作的一种选择。几种新型生物制剂正在研发中，用于治疗HTG，未来可能为FCS提供治疗选择。
我们介绍了一名43岁apoC-II缺乏的FCS男性患者具有挑战性的治疗情况，以及两种TPE和研究性降低TG生物治疗的结果。
患者的血脂谱与FCS一致。在 中鉴定出一种新的纯合变异，并证实了其致病性。即使采用低脂饮食，他的治疗也因胰腺炎反复发作而极其复杂。用FFP替代进行TPE后，每次治疗后TG降低>90%，似乎减少了胰腺炎发作。实验性血管生成素样蛋白3（ANGPTL3）和 抑制剂各自使TG降低>50%。
我们的病例表明，明确罕见疾病的潜在病因对于优化治疗和尽量减少不良后果非常重要。
