SESSION TITLE: ICU Cases
SESSION TYPE: Affiliate Case Report Slide
PRESENTED ON: Sunday, October 27, 2013 at 01:15 PM - 02:45 PM
INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder of cytokine dysfunction that is difficult to diagnose as it mimics a broad spectrum of illnesses. Here we describe a patient with fulminant liver failure who was ultimately diagnosed with HLH.
CASE PRESENTATION: A 66 year-old man was transferred to our intensive care unit for evaluation for liver transplantation. He presented to another institution with malaise and abdominal pain and was thought to have decompensated end-stage liver disease, though he had no history of cirrhosis. He was treated with broad-spectrum antibiotics and vasoactive pressors for presumed septic shock and continuous renal replacement therapy for renal failure. Blood, sputum, urine and ascites culture were negative. He had no history of alcohol or illicit drug use and worked as a marine biologist, but denied any infections or injuries preceding his illness. Physical examination revealed a jaundiced man with ascites and splenomegaly. Work-up for viral hepatitis and zoonotic infection was negative. Liver biopsy showed extensive hepatocyte dropout with no zonal distribution and lymphohistiocytic portal inflammation. There were no features of well-established cirrhosis or non-alcoholic steatohepatitis, the leading diagnosis at the other institution. Viral stains were negative and no fungal or acid-fast organisms were identified. Given the lymphohistiocytic inflammation and the presence of hypodense splenic lesions of unclear etiology, we pursued bone marrow biopsy to exclude a hematologic malignancy that would preclude liver transplantation. Biopsy showed a hypercellular marrow with trilineage hematopoiesis and no evidence of lymphoma on flow cytometry. It also showed frequent hemophagocytosis. In conjunction with the elevated ferritin, decreased fibrinogen and elevated soluble interleukin-2 receptor, a diagnosis of HLH was made. Unfortunately, he was not a candidate for the standard chemotherapeutic regimen given his comorbidities and was transitioned to comfort care.
DISCUSSION: HLH is typically familial in children and idiopathic or associated with viral infection or malignancy in adults. Diagnosis requires 5 or more of the following criteria: fever, splenomegaly, cytopenia involving 2 or more lines, hypertriglyceridemia or hypofibrinogenemia, hemophagocytosis on biopsy, hepatitis, low natural killer cell activity, hyperferritinemia, and elevated soluble IL-2 receptor (also known as soluble CD25) level. Treatment per the HLH-2004 protocol and ultimately hematopoietic stem cell transplantation provide the best chance at cure.
CONCLUSIONS: A high index of suspicion is required to diagnose HLH before the disease progresses beyond curability.
Reference #1: Henter JI et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2007;48:124-131.
Reference #2: Buyse S et al. Critical care management of patients with hemophagocytic lymphohistiocytosis. Intensive Care Med 2010;36:1695-1702.
DISCLOSURE: The following authors have nothing to disclose: Omar Mohamedaly
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