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HAEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS PRESENTING WITH LIVER FAILURE
M Chaklader1, W Wong2 1University of Alberta; 2University of Alberta, Edmonton, Alberta
AIMS: Haemophagocytic lymphohistiocytosis (HLH) is a rare and fatal disease. It is mostly seen in children and young adults. Most affected are immunocompetent. HLH may be inherited or acquired due to infections, collagen vascular diseases and malignancies. The pathological feature is aggressive proliferation of macrophages and histiocytes. The most common infection associated is Epstein-Barr virus. EBV-infected T cells or natural killer cells are responsible for macrophage activation and for producing massive amounts of cytokines which leads to a cytokine storm. This results in cell damage, organ failure and associated symptoms. Patients typically present with fever, anemia and splenomegaly. As HLH can mimic many conditions including septic shock, the diagnosis may easily be missed. Mortality can be as high as 50% if not treated early. The aim of this report is to increase awareness for early detection for patients with atypical presentation such as liver failure.
METHODS: We describe two cases of HLH secondary to EBV and a review of the literature. The first patient is a 24 year old man with autoimmune hepatitis and Crohn's disease treated with Imuran. He presented with fever, jaundice and flu-like symptoms. He was discharged from the ER, only to return after 1 day and was admitted to the ICU. The diagnosis was delayed as his symptoms were initially attributed to influenza. Although he was eventually diagnosed with HLH, he died from multi-organ failure before treatment for HLH was instituted. The second patient is a 17 year old previously healthy woman who had typical symptoms of infectious mononucleosis a few weeks prior. She had persistent high fevers up to 40C and developed liver dysfunction, jaundice and pancytopenia. She was referred to the Hepatology service for possible liver failure. As she presented just a few months after the initial case, she was promptly diagnosed with HLH due to increased awareness. She was started on HLH 2004 protocol. HLH-2004 is a chemotherapy regimen that includes etoposide, dexamethasone, cyclosporine A followed by intrathecal methotrexate and corticosteroids. She is currently doing well as an outpatient.
RESULTS: It is unclear if her improved outcome was attributed to early diagnosis or the fact that she is immunocompetent. The delay in diagnosis in the 24 year old man delayed treatment and subsequently contributed to his death.
CONCLUSIONS: Patients with underlying liver or GI diseases who are immunosuppressed as well as healthy adults can be at risk of HLH. Its presentation can mimic liver failure or septic shock. This condition should be suspected in a young adult who presents with persistent fevers and pancytopenia after a viral illness. Increased awareness, early detection and treatment are key to survival.