Abstract
INTRODUCTION: Sarcoidosis is a multisystem inflammatory disease characterized by noncaseating granulomas. It affects approximately 34 in 100,000 African Americans. Hepatic involvement is rare and is typically subclinical with only 0.1% to 0.9% of patients with clinically significant GI symptoms. We present a case of previously undiagnosed sarcoidosis with initial presentation of nausea, vomiting, pruritus, and severe abdominal pain with a cholestatic pattern of liver injury. CASE PRESENTATION: A 42-year-old African American woman with prior cholecystectomy and a history of diabetes mellitus, type 2 was admitted with severe right upper quadrant pain, nausea, vomiting, pruritus and a 45 pound weight loss over the course of 3 months. Physical exam showed diffuse abdominal pain without peritoneal signs worse in the RUQ and epigastric region with positive Murphy's sign. Labs revealed cholestatictransaminitis with elevated direct bilirubin and dramatically elevated alkaline phosphatase. RUQ ultrasound and MRCP were normal. An infectious workup was negative and the patient was not taking any hepatotoxic drugs. Serum anti-mitochondrial antibody was negative and subsequent biopsy revealed a large number of noncaseating granulomas with notable autoimmune biliary pathology on initial pathology read. Although a chest x-ray was normal, a chest CT revealed mediastinal lymphadenopathy. A fine needle aspiration showed noncaseating granulomatous lymphadenitis. ACE level was elevated at 101 U/L. Diagnosis of multisystem sarcoidosis was made. Prednisone was started and the patient was discharged several days later with nearly complete resolution of her symptoms. DISCUSSION: Sarcoidosis is a rare inflammatory disease identified most commonly in African American patients. Hepatic involvement is typically subclinical and found on routine blood work in 10%–30% of patients with pulmonary sarcoidosis. In this atypical case the patient presented with a clinical picture mimicking acute biliary pathology and no symptoms or classic pulmonary findings of pulmonary sarcoidosis. A few rare cases of symptomatic GI sarcoidosis with a biliary obstructive picture are noted in the literature, however, these patients are exclusively males and also presented with fever and hepatosplenomegaly, so sarcoidosis was not high on the initial differential. Infectious etiologies of granulomatous hepatitis including HIV, TB and fungal infection were ruled out. She was not on any drugs reported to cause granulomatous hepatitis. Primary biliary cirrhosis became the initial working diagnosis. However, the patient's AMA negative status and a pathology addendum that noted only minimal biliary tree involvement prompted a reevaluation and workup for sarcoidosis. In this atypical case of hepatic sarcoidosis the patient presented with a clinical picture consistent with acute biliary pathology and no symptoms of sarcoidosis. However, demonstration of a granulomatous hepatitis without other apparent cause and negative AMA in a high-risk demographic patient led to a correct diagnosis.