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Published 17 August 2009
Cite this as: BMJ Case Reports 2009 [doi:10.1136/bcr.05.2009.1858]
Copyright © 2009 by the BMJ Publishing Group Ltd.

Rare disease

Hemophagocytic lymphohistiocytosis—late diagnosis in an adult patient

Dawn Ng1, Nina Ghosh2, Lisa K Hicks3

1 University of Toronto, Medicine, 2nd floor, 500 University Ave, Toronto, Ontario, M5G 1V7, Canada
2 University of Ottawa, Medicine, 451 Smyth Road, Ottawa, Ontario, K1H 8M5, Canada
3 St. Michael’s Hospital, Medicine, Rm 2-046 Bond Wing, 30 Bond St, Toronto, Ontario, M5B 1W8, Canada

Correspondence to:
Lisa K Hicks, hicksl{at}smh.toronto.on.ca

SUMMARY

We present a case of hemophagocytic lymphohistiocytosis (HLH) in a previously healthy 30-year-old woman. The patient presented with features consistent with HLH: persistent fever, neurological abnormalities, lymphadenopathy, anaemia, leucopoenia and markedly elevated serum lactate dehydrogenase and ferritin levels. Diagnosis was delayed for approximately 1 month beyond presentation. Once initiated on treatment, the patient rapidly improved and was discharged from the intensive care unit and subsequently sent home. Unfortunately, she succumbed to progressive HLH 5 months after her initial presentation. This case highlights key clinical features associated with HLH to help prevent late diagnosis as delayed treatment may lead to irreversible multi-organ failure and/or death.


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