title: The challenging diagnosis of haemophagocytic lymphohistiocytosis in an HIV-infected patient.
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.
authors.affiliation: Department of Internal Medicine, Centro Hospitalar Lisboa Central EPE, Lisboa, Portugal.
authors.forename: Luísa
authors.initials: L
authors.lastname: Azevedo
authors.affiliation: Department of Hematology, Centro Hospitalar Lisboa Central EPE, Lisboa, Portugal.
authors.forename: Rita
authors.initials: R
authors.lastname: Gerivaz
authors.affiliation: Department of Internal Medicine, Centro Hospitalar Lisboa Central EPE, Lisboa, Portugal.
authors.forename: Joana
authors.initials: J
authors.lastname: Simões
authors.affiliation: Department of Internal Medicine, Centro Hospitalar Lisboa Central EPE, Lisboa, Portugal.
authors.forename: Isabel
authors.initials: I
authors.lastname: Germano
mesh_terms: D000328:Adult; D044966:Anti-Retroviral Agents / Q000627:therapeutic use; D000970:Antineoplastic Agents / Q000627:therapeutic use; D003937:Diagnosis, Differential; D005334:Fever / Q000209:etiology; D015658:HIV Infections / Q000150:complications* / Q000188:drug therapy / Q000276:immunology; D006801:Humans; D016867:Immunocompromised Host; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000188:drug therapy; D008297:Male; D010198:Pancytopenia / Q000209:etiology; D010412:Penile Neoplasms / Q000175:diagnosis / Q000188:drug therapy; D012514:Sarcoma, Kaposi / Q000175:diagnosis
chemical_list: D044966:Anti-Retroviral Agents; D000970:Antineoplastic Agents