INTRODUCTION: We report a rare presentation of hepatic sarcoidosis in a young male.
CASE PRESENTATION: A 21-year-old African American male presented with 2 months of fatigue, scleral icterus, and itching. Review of systems revealed fevers, night sweats, tachycardia, and weight loss. Physical examination showed scleral icterus, and hepatosplenomegaly. Laboratory analysis showed significant transaminitis, hyperbilirubinemia, hypoalbuminemia, hypercalcemia, normocytic anemia, and renal insufficiency with normal thyroid function, phosphorus, 1,25-OH Vitamin D, and complements. Autoantibody, viral, syphilis, and tuberculosis skin testing were negative. Urine revealed hypercalciuria and proteinuria. Angiotensin-1-converting enzyme (ACE) level was elevated. Computed tomography of chest revealed no parenchymal changes or adenopathy except for possible adenopathy near the porta-hepatis and gastrohepatic ligament. Magnetic resonance imaging showed hepatosplenomegaly. Magnetic Retrograde Cholangiopancreatography showed normal bile duct without choledocolithiasis and lymph nodes with enlarged porta-hepatis. Renal ultrasound was normal. Liver biopsy showed granuloma formation predominantly peri-portal, negative for acid-fast bacilli (AFB) and fungi (GMS) (Figure 1). Bile ductules were reduced with diffuse lobular activity. Bronchoalveolar lavage (BAL) showed lymphocytic alveolitis and giant cells. Transbronchial biopsies (TBB) revealed non-necrotizing granulomata (Figure 2) consistent with sarcoidosis. Treatment with ursodeoxycholic acid and hydroxyzine were ineffective. Two weeks of prednisone improved liver function, calcium, and ACE levels.
DISCUSSIONS: This case illustrates that hepatic manifestation can be the first sign of systemic sarcoidosis. The notable feature is that while liver sarcoidosis is usually asymptomatic with minimal abnormalities of liver function, our patient presented with evidence of liver disease, hypercalcemia, and renal insufficiency. If symptomatic, abdominal pain and pruritus are most common. Weight loss, jaundice, and fever are in less than 5%. Hepatomegaly is present in 5 to 15% . Intrahepatic cholestasis, liver failure, or encephalopathy are rare. The most common abnormal liver function test is an elevated alkaline phosphatase, found in only 15% of patients with histologic evidence of sarcoidosis. Hyperbilirubinemia occurs rarely. Systemic sarcoidosis consists of noncaseating granulomas involving at least two organ systems. Granulomatous disease and giant cells in the TBB and BAL of our patient indicated lung involvement although no radiographic evidence. Kennedy et al found 74% with liver sarcoidosis demonstrated histologic evidence of pulmonary disease, with 26% having negative clinical or radiological signs of pulmonary sarcoid . Granulomas are the main histological feature of sarcoidosis, consisting of aggregated epithelioid histiocytes and multinucleated giant cells. Lymphocytes and fibrin deposit are present in the periphery. Granulomatous lesions in portal and periportal areas of hepatic sinuses may cause progressive interlobular bile duct injury. Cholestasis symptoms require treatment with corticosteroids which have been shown to induce disease regression. However, often the cholestatic syndrome does not resolve but instead progresses . Ursodeoxycholic acid has been used for relief of cholestatic symptoms by inhibiting intestinal absorption and increases biliary secretion of cholic and chenodeoxycholic acids.
CONCLUSION: Although the liver is commonly involved in extrapulmonary sarcoidosis, it is usually asymptomatic. Our young patient presented with elevated liver function tests as well as jaundice, scleral icterus, pruritus, weight loss, malaise, hepatosplenomegaly, hypercalcemia, elevated ACE level, and renal insufficiency. This case emphasizes that hepatic sarcoidosis can present with symptoms, particularly those of a cholestatic picture, and may histologically involve the liver and lung even with radiographic stage 0 pulmonary sarcoidosis. It also suggests that when determining the extent of systemic sarcoidosis a TBB may be considered even in cases of stage 0 sarcoidosis to exclude other causes of hepatic granuloma.
DISCLOSURE: Ruby Varghese, No Financial Disclosure Information; No Product/Research Disclosure Information