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  • Title: The challenging diagnosis of haemophagocytic lymphohistiocytosis in an HIV-infected patient.
    Author: Azevedo L, Gerivaz R, Simões J, Germano I.
    Journal: BMJ Case Rep; 2015 Oct 28; 2015():. PubMed ID: 26511991.
    Abstract:
    The differential diagnosis of febrile pancytopenia in the setting of HIV infection can be challenging. The authors report a case of a 34-year-old man with advanced HIV infection (TCD4=8 cells/mm(3)) and a 2-month history of fever, weight loss and asthaenia. On observation, he was emaciated, hyperthermic and pale, with a haemorrhagic oropharyngeal lesion, penile violaceous lesions and palpable hepatosplenomegaly. Blood tests showed pancytopenia, hyperferritinaemia and hypertriglyceridaemia; imaging confirmed hepatosplenomegaly and a bone marrow biopsy revealed HIV-associated dyshematopoiesis. Biopsy of the aforementioned lesions displayed Kaposi sarcoma; extensive investigation was negative for other opportunistic infections or lymphoproliferative disease. Despite only a posteriori histological documentation, haemophagocytic lymphohistiocytosis (HLH) was considered; chemotherapy and antiretrovirals were started, with excellent response. There was, however, disease relapse requiring an intensification course, with sustained remission at 18-month follow-up. HLH is a rare disease, with non-specific presentation, requiring a high index of suspicion since treatment delay can be fatal.
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