Gouni-Berthold Ioanna
Polyclinic for Endocrinology, Diabetes and Preventive Medicine, University of Cologne, Cologne, Germany.
J Endocr Soc. 2019 Dec 23;4(2):bvz035. doi: 10.1210/jendso/bvz035. eCollection 2020 Feb 1.
Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by severely high triglycerides (TGs). It is associated with a marked increase in risk of recurrent, potentially fatal acute pancreatitis (AP), and symptoms including abdominal pain, fatigue, and anxiety that may substantially reduce quality of life (QoL). A 46-year-old woman with FCS and severely high TGs initially presented with necrotizing pancreatitis with pseudocysts, having previously experienced recurrent AP. The patient reported constant abdominal pain and fatigue, which were evident in her demeanor. Initial management included maximum doses of omega-3 fatty acids and fibrates, plus an extremely restricted diet (reduced intake: calories, fats, simple sugars; no alcohol). Despite adherence to all management strategies, TGs remained at approximately 2800 mg/dL (31.6 mmol/L) and symptoms persisted. The patient was enrolled in COMPASS, a phase 3, placebo-controlled trial to evaluate the effect of an investigational drug, volanesorsen, on fasting TGs in patients with hypertriglyceridemia (fasting TGs ≥ 500 mg/dL [≥5.7 mmol/L]). The woman, a confirmed FCS patient, continued into the open-label extension study, during which fasting TGs decreased to 146 mg/dL (1.7 mmol/L) following 4 months of treatment. The restrictive diet was maintained throughout treatment and no serious adverse events were reported. Along with sustained TG reduction, the patient experienced progressive, perceived improvements in observable QoL measures and a marked reduction in symptom severity and frequency. In a patient with FCS, reduction in TGs following volanesorsen therapy appeared to be associated with marked improvement in clinical symptoms and observed QoL.
家族性乳糜微粒血症综合征（FCS）是一种罕见的遗传性疾病，其特征是甘油三酯（TG）严重升高。它与复发性、可能致命的急性胰腺炎（AP）风险显著增加相关，症状包括腹痛、疲劳和焦虑，这些症状可能会严重降低生活质量（QoL）。一名46岁患有FCS且TG严重升高的女性最初表现为坏死性胰腺炎伴假性囊肿，此前曾经历复发性AP。患者自述持续腹痛和疲劳，这在她的神态中很明显。初始治疗包括最大剂量的ω-3脂肪酸和贝特类药物，外加极度严格的饮食（减少摄入量：卡路里、脂肪、单糖；禁酒）。尽管坚持了所有治疗策略，TG仍维持在约2800mg/dL（31.6mmol/L），症状持续存在。该患者参加了COMPASS试验，这是一项3期、安慰剂对照试验，旨在评估一种研究药物volanesorsen对高甘油三酯血症患者（空腹TG≥500mg/dL[≥5.7mmol/L]）空腹TG的影响。这名确诊为FCS的女性继续参加开放标签扩展研究，在治疗4个月后，空腹TG降至146mg/dL（1.7mmol/L）。在整个治疗过程中维持严格饮食，未报告严重不良事件。随着TG持续降低，患者在可观察到的QoL指标方面有逐渐明显的改善，症状严重程度和频率显著降低。在一名FCS患者中，volanesorsen治疗后TG的降低似乎与临床症状和观察到的QoL的显著改善相关。
