P3C375: From Swollen Feet to Liver Defeat? A Case of Autoimmune Hepatitis in an Adolescent

Introduction: Sjögren's syndrome is an autoimmune disorder characterized by dry mucous membranes and exocrine gland inflammation. In rare cases, it may present as fulminant liver failure due to autoimmune hepatitis.

Case Description: The patient presented with eight months of fatigue and non-pitting ankle edema. In the ED, she was afebrile and hemodynamically stable with mild scleral icterus and bilateral non-pitting edema, which had progressed to the level of her knees. Initial workup was notable for pancytopenia (WBC 4.21 10^3/uL, hemoglobin 8.8 g/dL, platelets 65,000 10^3/uL), transaminitis (ALT 111, ALT 195, total bilirubin 2.6), and coagulopathy (INR 1.8). Hematology/oncology as well as Gastroenterology/hepatology were consulted, and she received FFP and Vitamin K for coagulopathy, rifaximin, famotidine, and ursodiol. Transaminitis improved, and liver biopsy confirmed autoimmune hepatitis with periportal hepatonecrosis and presence of plasma cells. Rheumatology was subsequently consulted. Given her significantly elevated IgG (5,191 mg/dL) and lower extremity swelling, RS3PE (remitting seronegative symmetrical synovitis with pitting edema) was suspected, and broad autoimmune workup was initiated. ANA returned positive (1:640) with positive Anti-SSA and SSB antibodies, confirming her diagnosis of Sjögren’s syndrome. Hyperammonemia was unremitting (peak value of 194 umol/L) despite the addition of methylprednisolone and lactulose, and the patient progressed to Stage 1 hepatic encephalopathy. Given this complication, the patient qualified for status 1A placement for liver transplant, which occurred after several days of CRRT in the pediatric ICU. Following orthotopic liver transplant, immunosuppressives were initiated with 2-dose Basiliximab infusion, steroids, tacrolimus, and mycophenolate. Prophylactic valacylovir and bactrim were added. Post-operative course was uncomplicated, and she was discharged after eighteen hospital days. She continues to follow with Pediatric Gastroenterology and Transplant Medicine.

Discussion: This case highlights the potential complications of Sjögren’s syndrome, including the rare presentation of edema (RS3PE) due to autoimmune hepatitis, ultimately requiring liver transplantation. Pediatric acute liver failure is rare, with only several hundred cases in the United States annually; when present, it is less frequently caused by Sjögren’s syndrome compared to other autoimmune diseases, infections, and intoxication. Despite a relatively benign exam and no significant medical history, the patient decompensated within hours despite supportive medications, which highlights the need for frequent monitoring and cautions against provider reassurance from improving liver markers alone.

Conclusion: Sjögren’s syndrome can rarely present as acute liver failure, leading to emergent liver transplantation in otherwise-healthy adolescents. Gathering a complete and accurate family medical history is critical for early diagnosis. Frequent laboratory and clinical monitoring and aggressive treatment with immunosuppressive therapy may prevent or delay the progression of liver disease. Expedited care via a multidisciplinary team and early referral for transplant is essential for patient survival.