S2555 Longstanding Hepatosplenomegaly in an Undiagnosed Sarcoidosis Patient

Abstract

INTRODUCTION: Sarcoidosis, a multisystem granulomatous disease, typically affects the lungs and lymph nodes. Although there is hepatic involvement in approximately 66% of cases, the liver is rarely the cause of symptoms.We present a case of longstanding sarcoidosis in a young patient whose delayed diagnosis likely resulted in worsened portal hypertension and severe pancytopenia. CASE DESCRIPTION/METHODS: In 2015, a 25 year-old Panamanian woman was referred to Hepatology for elevated liver tests. Initial workup ruled out autoimmune hepatitis and viral hepatitis. She was lost to follow-up until 2017 when she saw a different hepatologist for elevated liver tests. As noted in Table 1, she developed significant cholestasis during that interval. Serologic studies for primary cholestatic liver disease were negative. Imaging showed hepatosplenomegaly but she was again lost to follow-up. In 2019, she presented to the Emergency Department with severe abdominal pain. Labs showed pancytopenia and computed tomography (CT) of the abdomen/pelvis showed hepatosplenomegaly. She was referred to Hematology/Oncology. Bone marrow biopsy was negative. She was again referred to Hepatology. She reported a chronic rash on her lower extremities, but was otherwise asymptomatic. Skin biopsy suggested erythema nodosum. Physical exam was notable for massive splenomegaly, confirmed by CT (Figure 1). Labs revealed pancytopenia and persistent cholestasis. An extensive workup for granulomatous diseases and systemic fungal, viral and mycobacterial infections was completed. Angiotensin converting enzyme (ACE) was markedly elevated (Table 1). Ultimately, liver biopsy was performed. Results confirmed granulomatous hepatitis. (Figure 2). After referral to the Sarcoidosis team, she was noted to have significantly elevated interleukin-2 (IL-2) level, consistent with the diagnosis. DISCUSSION: This case nicely illustrates the natural history of hepatic sarcoidosis. Our patient presented with a normal hematologic profile and mildly elevated liver tests, however she progressed to develop significant cholestasis, portal hypertension and pancytopenia. Earlier recognition and treatment may have hindered progression of portal hypertension. Sarcoidosis should be strongly considered in the diagnostic workup of elevated liver tests, especially in young patients who are at highest risk . In addition to ACE, absolute lymphocyte count and IL-2 level are highly sensitive for sarcoidosis and were also abnormal in our patient.Table 1.: Lab values from 2015-2020. Abbreviations: VCA: Viral Capsid Antigen; EBNA: Epstein-Barr Nuclear AntiigenFigure 1.: CT abdomen and Pelvis showing hepatosplenomegaly.Figure 2.: Liver biopsy pathology showing granulomatous hepatitis.