Abstracts From: 14th Annual International Congress on Hematologic Malignancies
Case Reports Abstract 10 Clinical Lymphoma, Myeloma & Leukemia, Vol. 10, No. 3, E36, 2010; DOI: 10.3816/CLML.2010.n.045
Diagnostic Dilemma: Unrelenting Fever, Cytopenia, and Systemic Inflammation in a 20-Year-Old Patient Neeraj Agnihotri, Thandavababu Chelliah Division of Hematology and Oncology, Maimonides Medical Center, Brooklyn, NY; Division of Hematology and Oncology, Coney Island Hospital, Brooklyn, NY
Abstract Vignette: A 20-year-old female presented with a 1-week history of generalized lethargy and high-grade fever. Fever was continuous without chills or rigors. She denied cough, sore throat, runny nose, dysuria, diarrhea, rash, headache, changes in weight or appetite, night sweats, recent travel, or sick contacts. Temperature was 103°F orally, and the rest of the vital signs were normal. Physical examination failed to provide any localizing signs with normal oropharyngeal, respiratory, cardiovascular, abdominal, and neurologic symptoms. Laboratory and radiologic studies were normal. Blood, urine, and respiratory cultures were drawn. She continued to be febrile and clinically worsened with increasing respiratory distress. Laboratory analyses showed development of progressive leukopenia, anemia, and thrombocytopenia, elevation of bilirubin and transaminases, prolongation of PT and PTT, and low fibrinogen levels without schistocytes on peripheral smear. Ferritin was elevated at 16,000. Empiric broad-spectrum antibiotics showed no response. Extensive testing for source of fever, including blood, respiratory and urine cultures, H1N1 testing, influenza A and B antigen, serological studies for hepatitis A, B, D, and E, antinuclear antibody profile, rheumatoid factor, lupus anticoagulant, Quantiferon blood test for tuberculosis, blood smears for malarial parasite, leptospira antibody, urine legionella antigen EBV DNA and EBV antibody, parvovirus antibody were done and were negative. Bone marrow aspiration and biopsy were performed, which showed marked increase in histiocytes with phagocytosis of erythroid and myeloid precursors and megakaryocyte fragments. Soluble IL-2 receptor alpha level was increased, confirming the diagnosis of hemophagocytic lymphohistiocytosis (HLH). Natural killer cell activity was normal. Following the diagnosis of HLH, the patient was started on chemotherapy using the HLH2004 protocol and subsequently transferred to a tertiary care center, where she continued treatment. Discussion: HLH is characterized by multi-system inflammation resulting from excessive activation of antigen-presenting cells and CD8+ T cells. Hemophagocytosis in the bone marrow is the hallmark. HLH can be genetic with a mutation in perforin or MUNC 13-4 gene, or acquired, usually secondary to infection, malignancy, or autoimmune diseases. Prolonged fever, hepatosplenomegaly neurologic symptoms, rash, and lymphadenopathy are seen. Course is rapidly fatal without specific treatment. Treatment should be started when there is high clinical suspicion and consists of chemotherapy (HLH-2004 protocol). Definitive curative treatment is a hematopoietic stem cell transplantation. Such a typical case of HLH is extremely rare. Clinicians should maintain a high degree of suspicion to rule out HLH. Our case adds to the literature on this rare disease and will help in understanding the disease better.
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Clinical Lymphoma, Myeloma & Leukemia June 2010