Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Consequences of treatment for hemophagocytic lymphohistiocytosis in a patient with undiagnosed Gaucher disease Type 1. 3298 97