The Hemophagocytic Syndrome in an Immunocompromised Patient: A Diagnostic Challenge

1Department of Internal Medicine, Clinica Montpellier; 2Haematology consultant, Clinica Montpellier; 3Laboratorio Jose Maria Grasa Biel, Sociedad Anonima; 4Department of Neurology, Clinica Montpellier, Zaragoza, Spain Correspondence: Dr Isabel Fiteni, Andador Luis Puntes 4, 3a B, 50008 Zaragoza, Spain. Telephone 0034-9-76-590412, e-mail ifiteni@saludalia.com CASE PRESENTATION A 23-year-old woman was admitted to hospital because of intermittent fever up to 40°C accompanied by significant arthralgia and myalgia for the previous seven days. She had been receiving azathioprine 100 mg per day and prednisone 60 mg per day for Harada’s disease with frequent bouts of recurrent uveitis for the past two years. She had been complaining of diffuse muscle and joint pain, stiffness and general weakness for the previous seven months, which prevented her from walking. Steroids had been tapered during the previous several weeks for suspected iatrogenic myopathy, although there had been no improvement. She denied cough, chest pain, headache or other symptoms. She had no pets, except contact with a friend’s dog, and had not travelled recently. Physical examination revealed a cushingoid woman in no distress with no adenopathy. Chest, cardiovascular, skin and abdominal exams were normal, and no hepatosplenomegaly was noted. Blood analysis revealed pancytopenia (hemoglobin 5.4 mmol/L; leukocytes 2×109/L [0.4×109/L lymphocytes]; platelets 38×109/L), elevated liver enzymes (aspartate aminotransferase 561 U/L; alanine aminotransferase 451 U/L; lactate dehydrogenase 2300 U/L) and an increased prothrombin time by 56%. The erythrocyte sedimentation rate was 120 mm/h. Total gamma globulins were decreased (10 g/L) with low immunoglobulin G (6.53 g/L) and normal albumin (45 g/L). Triglycerides and fibrinogen were normal. Urine analysis, other routine biochemical markers and renal function were normal, as were the assays for rheumatoid factor, total complement activity, reticulocyte count and vitamin B12 levels. Autoimmmune studies (ie, antinuclear antibody, anti-DNA) and a Coomb’s test were negative, as was serology for common endemic infectious diseases (ie, Brucella species; Cytomegalovirus; Epstein-Barr virus; hepatitis A, B and C viruses; leishmania). Blood and urine cultures for bacteria were negative. A radiograph of the chest was normal, although echocardiography revealed a mild pericardial effusion. A computed tomography scan of the chest did not reveal any abnormalities. A diagnostic procedure was performed. What is the diagnosis?