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Consequences of treatment for hemophagocytic lymphohistiocytosis in a patient with undiagnosed Gaucher disease Type 1
Author(s) -
Anderson Hans E.,
Taylor Matthew R. G.
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61880
Subject(s) - hemophagocytic lymphohistiocytosis , medicine , disease , etoposide , pediatrics , immunosuppression , alemtuzumab , immunology , chemotherapy , surgery , transplantation
Gaucher disease, a lysosomal storage disorder and hemophagocytic lymphohistiocytosis (HLH), a disorder of the immune system, have several overlapping clinical features including cytopenias, elevated serum ferritin, and splenomegaly. Prior reports of acute infantile neuronopathic, Type 2 Gaucher disease manifesting with signs of HLH have been published. Here we describe an adult patient who was initially suspected of having HLH, and was treated with a 10‐day course of etoposide and a 5‐day course alemtuzumab for presumptive HLH, only to later to have his presentation be determined to be due to Type 1 Gaucher disease. HLH chemotherapy treatment appeared to trigger a severe Gaucher acute pain crisis and extensive bony disease including avascular necrosis. Prolonged immunosuppression, and recurrent infections further complicated a lengthy hospitalization. We discuss the clinical overlap between Gaucher and HLH and the iatrogenic consequences of HLH‐directed therapy on underlying Type 1 Gaucher disease.