A Case of Recurrent Pregnancy-Induced Adult Onset Familial Hemophagocytic Lymphohistiocytosis

Lan Y. Wang, John Hu, Giridharan Ramsingh, Bassam Theodory, Bassam Yaghmour, Maria Vergara-Lluri, George Yaghmour


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 UNC13D 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.

World J Oncol. 2018;9(4):123-127
doi: https://doi.org/10.14740/wjon1145w


Hemophagocytic lymphohistiocytosis; Pregnancy; Familial; Adult; Mutation; Chemotherapy; Genetic

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