Hematophagocytic Lymphohistiocytosis Presenting as Acute Liver Failure

Abstract

INTRODUCTION: Hematophagocytic lymphohistiocytosis (HLH) is an exceedingly rare autoimmune disorder seen more within the pediatric population and only a handful of cases reported in adults. HLH is characterized by massive inflammation and tissue destruction secondary to the unregulated activity of macrophages and cytotoxic T lymphocytes. Herein we present a rare case of HLH in an adult. CASE PRESENTATION: A 25-year-old African American female with no significant past medical or social history presented with fevers, night sweats, and chills. Physical exam revealed a temperature of 103.1 F and diffuse non-tender generalized lymphadenopathy. Laboratory data revealed leukopenia (WBC 1.43 X 103), neutropenia (0.29/mcL), thrombocytopenia (78 X 103), and abnormal liver function studies with AST 3629 U/L, ALT 1647 U/L, total bilirubin 21, normal alkaline phosphatase, INR 2.0, platelet count 45 X 103, and INR 2.0. The ferritin level resulted >40,000 ng/mL. Ceruloplasmin, ammonia, ethanol, acetaminophen levels, and hepatitis serology were normal. ANA was noted to be 1:160 in a speckled pattern and her subsequent extractable nuclear antigen panel was positive for smooth muscle ribonucleprotein antigens. Liver biopsy showed hepatic parenchyma with Kupffer cell hyperplasia with hemophagocytosis. Ultimately the patient was diagnosed with secondary HLH due to rheumatological process and was started on high dose steroids which resulted in near resolution of her liver chemistries.Figure 1Figure 2DISCUSSION: HLH is associated with a very poor prognosis and life span of only few months if left untreated. Mortality is due to rapidly progressive multi-organ failure. Since it is such a rare disorder patients typically undergo lengthy work up before the correct diagnosis can be reached at which point their prognosis is dismal. To allow for rapid detection, a low index of suspicion for HLH should exist in a patient who meets a majority of the clinical criteria set forth by the histiocyte society in 2004, which include hyperferritinemia, hepatosplenomegaly, cytopenia, and hypertriglyceridemia or hypofibrinogenemia, decreased NK activity, and high IL-2 levels. In the case of high suspicion, treatment should be initiated promptly, as these patients deteriorate rapidly. Treatment should focus on suppressing the immune system and targeting the underlying trigger.