Nadler Johannes, Hermanns-Clausen Maren, Dilger Karin
Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg Freiburg Germany.
JIMD Rep. 2022 Oct 4;64(1):23-26. doi: 10.1002/jmd2.12341. eCollection 2023 Jan.
Eliglustat is an orphan medicine used for long-term treatment of Gaucher disease type 1 (GD1) in adults. GD1 is a genetic condition, in which glucosylceramide builds up in the body, typically in liver, spleen, and bone. Clinical signs and symptoms of the disease are anemia, tiredness, easy bruising, hepatosplenomegaly, bone pain, and fractures. Eliglustat works by blocking glucosylceramide synthase (substrate reduction therapy). This medicine is subject to additional safety monitoring by regulatory authorities in the European Union. Scientific literature on eliglustat overdose is not available. We herein describe successful treatment of a suicidal attempt with massive eliglustat overdose. A 29-year-old female with GD1, a poor metabolizer of cytochrome P450 2D6 on a recommended daily dose of 84 mg of eliglustat, had taken 94 capsules of eliglustat (84 mg per capsule). One hour after ingestion of almost 8 g of eliglustat, the patient suffered from somnolence, severe bradycardia (37 bpm), and hypotension (systolic blood pressure of 70 mm Hg). After intravenous administration of atropine (1 mg) and cafedrine/theoadrenaline (100 mg/5 mg) by the called emergency physician, the patient resolved gradually. She remained 24 h with stable hemodynamics at a nearby intensive care unit. During continuous ECG monitoring, increased frequency of supraventricular ectopic activity and a first-degree atrioventricular block were observed. To our knowledge, this is the first case report on a suicidal attempt with eliglustat.
eliglustat是一种用于成人1型戈谢病(GD1)长期治疗的孤儿药。GD1是一种遗传性疾病,其中葡糖神经酰胺在体内蓄积,通常在肝脏、脾脏和骨骼中。该疾病的临床体征和症状包括贫血、疲劳、易瘀伤、肝脾肿大、骨痛和骨折。 eliglustat通过阻断葡糖神经酰胺合酶发挥作用(底物减少疗法)。这种药物在欧盟受到监管机构的额外安全监测。目前尚无关于eliglustat过量的科学文献。我们在此描述了一例因大量服用eliglustat自杀未遂的成功治疗案例。一名29岁患有GD1的女性,细胞色素P450 2D6代谢不良,正在服用推荐日剂量84毫克的eliglustat,她服用了94粒eliglustat胶囊(每粒84毫克)。在摄入近8克eliglustat一小时后,患者出现嗜睡、严重心动过缓(37次/分钟)和低血压(收缩压70毫米汞柱)。在出诊的急诊医生静脉注射阿托品(1毫克)和卡非君/去氧肾上腺素(100毫克/5毫克)后,患者逐渐好转。她在附近的重症监护病房血流动力学稳定地待了24小时。在持续心电图监测期间,观察到室上性异位活动频率增加和一度房室传导阻滞。据我们所知,这是首例关于eliglustat自杀未遂的病例报告。