P3058 - Hemophagocytic Lymphohistiocytosis Associated With Chronic Active Epstein-Barr Virus Infection Presenting With Acute Liver Injury

Abdullah Javed, MBBS¹, Nihal I. Khan, MD², Sana Shahid, MD², Ruiyang Huang, MD³, Muhammad Zaeem, MD², Hamza T. Akram, MBBS⁴, Waseh Ahsan, MBBS¹, Ahsan Safdar, MBBS⁵, Jie Ouyang, MD^6
1Jinnah Hospital, Lahore, Punjab, Pakistan; ²AdventHealth Medical Group, AdventHealth, Orlando, FL; ³University of Miami Miller School of Medicine, Orlando, FL; ⁴District Headquarter Teaching Hospital, Sargodha, Punjab, Pakistan; ⁵Services Institute of Medical Sciences, Lahore, Punjab, Pakistan; ⁶AdventHealth, Orlando, FL

Introduction: Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening condition marked by immune dysregulation, systemic inflammation, and multi-organ failure. Herein we present a young patient with acute gastrointestinal symptoms found to have Epstein-Barr virus (EBV) associated HLH on liver biopsy.

Case Description/Methods: An 18-year-old male presented to the emergency department with worsening abdominal distension and pain for three days. Initial workup showed significantly elevated transaminases, thrombocytopenia, hyponatremia, and elevated ferritin (1496 ng/mL). CT abdomen/pelvis revealed hepatosplenomegaly with massive ascites. Ascitic fluid analysis revealed predominant lymphocytosis with low SAAG, consistent with non-portal etiology. Chronic liver disease and biliary system workup was negative. Serological workup was negative except for positive EBV IgG and EBV PCR (6.5x10⁵IU/ml) with negative EBV IgM, raising suspicion for chronic active EBV infection. Liver biopsy revealed marked mononuclear cell-mediated inflammation and hemophagocytosis. CXCL9 (16942 pg/mL) and sIL-R (8347 U/mL) were also markedly elevated. Considering HLH, dexamethasone and etoposide were initiated as per protocol. He was also started on acyclovir for EBV treatment, micafungin for antifungal coverage and a prophylaxis against pneumocystis jiroveci. Bone marrow biopsy confirmed the diagnosis of HLH. The patient has significantly improved with ongoing chemotherapy.

Discussion: Patients with HLH initially present with vague symptoms resembling sepsis and are categorized into familial and acquired types. Acquired HLH is triggered by immunologic activation linked to infection, malignancy, or immunosuppression. Due to its varying etiology and non-specific clinical features, high clinical suspicion is required for diagnosis. Our case had a recent history of viral prodrome, and a positive Epstein-Barr encoding region in-situ hybridization (EBER-ish) with hemophagocytosis on liver biopsy, indicating EBV as the likely underlying trigger. The Modified (2009) HLH-2004 criteria for diagnosis has limitations in adults, primarily due to its design based on pediatric population, limited availability of certain tests and highly variable clinical cues. Fardet et al. introduced a H-score scoring system to predict the probability of HLH, enabling timely administration of therapy. This case illustrates the importance of early tissue biopsy and appropriate investigations for underlying causes of HLH once clinical suspicion is raised.



Disclosures:


Abdullah Javed, MBBS¹, Nihal I. Khan, MD², Sana Shahid, MD², Ruiyang Huang, MD³, Muhammad Zaeem, MD², Hamza T. Akram, MBBS⁴, Waseh Ahsan, MBBS¹, Ahsan Safdar, MBBS⁵, Jie Ouyang, MD⁶. P3058 - Hemophagocytic Lymphohistiocytosis Associated With Chronic Active Epstein-Barr Virus Infection Presenting With Acute Liver Injury, ACG 2024 Annual Scientific Meeting Abstracts. Philadelphia, PA: American College of Gastroenterology.