Zhou Jenny Y, Martinez Jordan A, Shen John Paul
Department of Medicine, University of California, San Diego, San Diego, CA, USA.
Department of Gastrointestinal Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
J Med Case Rep. 2019 Nov 26;13(1):345. doi: 10.1186/s13256-019-2295-1.
Hemophagocytic lymphohistiocytosis is a rare hematological syndrome characterized by excessive and uncontrolled activation of the immune system. The often nonspecific nature of early symptoms and the potential for progression to multiorgan failure and death if appropriate therapy is not started promptly, highlight the importance of heightened recognition for this uncommon disease. Although there are well-described associations of hemophagocytic lymphohistiocytosis with infectious, malignant, and autoimmune diseases and an established treatment protocol for these cases, the link between medications and hemophagocytic lymphohistiocytosis is less clearly established and the optimal treatment of these cases less well defined.
Here we describe the case of a 45-year-old caucasian woman presenting with signs and symptoms consistent with hemophagocytic lymphohistiocytosis, induced by recent exposure to lamotrigine. She had a rapidly progressive clinical course, complicated by multiorgan failure including stress-induced Takotsubo cardiomyopathy and cardiac arrest. With dexamethasone and etoposide therapy, she made a full and sustained recovery.
This case highlights that medication-induced hemophagocytic lymphohistiocytosis appears to respond similarly to the same dexamethasone and etoposide treatment regimen developed for other non-drug-induced forms of hemophagocytic lymphohistiocytosis. With the continued cessation of the offending agent there has not been need for maintenance therapy and no relapse to date. In addition, given the risk for cardiomyopathy, a clinical complication not classically associated with hemophagocytic lymphohistiocytosis, echocardiogram and telemetry monitoring should be considered in the initial workup of suspected hemophagocytic lymphohistiocytosis.
噬血细胞性淋巴组织细胞增生症是一种罕见的血液学综合征，其特征为免疫系统过度且不受控制的激活。早期症状通常不具有特异性，若不及时开始适当治疗，病情有可能进展为多器官功能衰竭并导致死亡，这凸显了提高对这种罕见疾病认识的重要性。尽管噬血细胞性淋巴组织细胞增生症与感染性、恶性和自身免疫性疾病之间的关联已有详尽描述，且针对这些病例也有既定的治疗方案，但药物与噬血细胞性淋巴组织细胞增生症之间的联系尚不太明确，此类病例的最佳治疗方法也不太明确。
在此，我们描述了一名45岁白种女性的病例，她出现了与噬血细胞性淋巴组织细胞增生症相符的体征和症状，病因是近期接触拉莫三嗪。她的临床病程进展迅速，并发多器官功能衰竭，包括应激性Takotsubo心肌病和心脏骤停。经地塞米松和依托泊苷治疗后，她实现了完全且持续的康复。
该病例表明，药物诱导的噬血细胞性淋巴组织细胞增生症似乎对为其他非药物诱导形式的噬血细胞性淋巴组织细胞增生症制定的相同地塞米松和依托泊苷治疗方案有类似反应。随着致病药物的持续停用，无需进行维持治疗，且迄今为止未出现复发情况。此外，鉴于存在心肌病风险（这是一种通常与噬血细胞性淋巴组织细胞增生症无关的临床并发症），在疑似噬血细胞性淋巴组织细胞增生症的初始检查中应考虑进行超声心动图和遥测监测。
