Wang Lan Y, Hu John, Ramsingh Giridharan, Theodory Bassam, Yaghmour Bassam, Vergara-Lluri Maria, Yaghmour George
Department of Medicine, University of Southern California, Keck School of Medicine of USC, Los Angeles, CA 90033, USA.
Jane Anne Nohl Division of Hematology and Center for the Study of Blood Diseases, University of Southern California, Keck School of Medicine of USC, USC Norris Comprehensive Cancer Center, Los Angeles, CA 90033, USA.
World J Oncol. 2018 Aug;9(4):123-127. doi: 10.14740/wjon1145w. Epub 2018 Sep 6.
Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal disease primarily of children, characterized by a severe hyperinflammatory state. We describe a case of adult onset familial HLH with a novel exon 19, c.1607G>T (p.Arg536Leu) heterozygous mutation of the gene in a 40-year-old woman who developed HLH during her first and second pregnancies, both episodes occurring during the first trimester. Our patient was treated successfully both times with HLH-94 protocol following spontaneous abortions and is currently in the process of getting a bone marrow transplant. We also discuss pregnancy as a potential trigger for late onset familial HLH.
噬血细胞性淋巴组织细胞增生症（HLH）是一种主要发生于儿童的罕见且可能致命的疾病，其特征为严重的高炎症状态。我们描述了一例成年起病的家族性HLH病例，一名40岁女性的 基因外显子19发生了新的杂合突变，即c.1607G>T（p.Arg536Leu），该女性在首次和第二次怀孕的前三个月均发生了HLH。我们的患者两次均在自然流产后采用HLH - 94方案成功治疗，目前正在接受骨髓移植。我们还讨论了妊娠作为晚发性家族性HLH潜在触发因素的情况。
