Isolated Extrapulmonary Hepatic and Splenic Sarcoidosis With Hepatomegaly and Symptomatic Massive Splenomegaly

Abstract

A 28-year-old white male with a history of chronic abdominal pain, GERD and IV drug abuse presented to the Emergency Department complaining of fatigue, abdominal pain, nausea and vomiting for 3-4 months, and rapid weight loss of 90 lbs. CT scan of his abdomen revealed hepatosplenomegaly, portal hypertension and portacaval lymphadenopathy. Initial labs were remarkable for pancytopenia, elevated serum creatinine of 2.9, elevated serum calcium of 12.7, elevated AST of 69 and ALT of 65, and alkaline phosphatase of 506. Hepatitis C antibody was positive with a negative viral load. Due to the concern for underlying malignant process, he underwent endoscopic ultrasound with periportal lymph node biopsy which was nondiagnostic. SPEP was unremarkable, alpha-1 antitrypsin was normal, ferritin was mildly elevated, ceruloplasmin was elevated, ANA was negative, antimitochondrial antibodies weakly positive, ANCA negative, anti-smooth muscle antibody moderately to strongly positive, light chains elevated, the CMV and EBV viral load were negative, HIV was negative, and ACE level was elevated. Pt then underwent bone marrow biopsy, no evidence of a lymphoproliferative disorder was found. Subsequently, a liver biopsy and splenectomy was performed. Pathology revealed diffuse non-necrotizing granulomatous inflammation consistent with sarcoidosis of both the liver and spleen, and a diagnosis of extrapulmonary sarcoidosis was made. Resected spleen weighed 2,022 g easily meeting criteria for massive splenomegaly by weight. Pathology also revealed stage 2-3 fibrosis of the liver, iron staining and AFB staining was negative for mycobacteria in both organs. Pt never had any pulmonary symptoms and multiple chest x-rays failed to demonstrate the hallmark hilar lymphadenopathy and reticular opacities of pulmonary sarcoidosis. Sarcoidosis is a disease of unknown origin, characterized by noncaseating granulomas in involved organs with pulmonary involvement in 90% of cases. Isolated extrapulmonary disease is rare, occuring in only 10% of cases. This patient's presentation with symptomatic massive splenomegaly and pancytopenia in the setting of isolated hepatic and splenic sarcoidosis is very rare. After nearly a month long hospitalization, he was discharged on ursodiol. On follow up, he was then transitioned to prednisone and later to methotrexate with the discontinuation of prednisone due to an elevation in his LFTs. As a result of his treatment, the patient gained back some weight, his liver enzymes decreased to AST of 97 and ALT of 89, alkaline phosphatase decreased to 305, and his pancytopenia completely resolved.Figure 1