GE: Portuguese Journal of Gastroenterology (Jun 2024)
Navigating Challenges in a Case of Unusual Hepatic and Pulmonar Sarcoidosis: A Comprehensive Clinical Journey
Abstract
Introduction: Sarcoidosis, a systemic granulomatous disorder with uncertain etiology, commonly involves the lungs and, to a lesser extent, the liver. Case Presentation: A previously healthy 35-year-old Congolese female was admitted with a 7-month history of jaundice, itching, and weight loss. Despite markedly mixed hepatitis of a cholestatic pattern of liver injury, liver function tests remained normal in admission laboratory work. Enlarged ethiological study was negative for infections, autoimmunity, heavy metal poisoning, and metabolic diseases. Imaging aligned with compatible biopsy histology led to the diagnosis of hepatic and pulmonary sarcoidosis with vanishing bile duct syndrome. Despite initial treatment with ursodeoxycholic acid and corticosteroid therapy, the patient exhibited an unexpected exacerbation of liver enzymes, prompting a careful consideration of second-line interventions. Following discussion with a tertiary center and a comprehensive review of the literature, it was determined not to intensify therapy due to an inadequate response. Recognizing the persistent challenge of managing advanced cases and the potential progressive course of the disease, the patient was referred to a tertiary transplant center. Currently, she is under outpatient follow-up, clinical and analytically stable with no targeted therapy. Conclusion: This case report details a rare presentation of hepatic sarcoidosis with an unusual laboratory pattern, emphasizing diagnostic and management challenges in recognizing atypical presentations of hepatic sarcoidosis. The complexity of managing advanced cases warrants a multidisciplinary approach and the limited literature on this subject emphasizes the urgency for a more comprehensive understanding of sarcoidosis to improve diagnostic accuracy and refine therapeutic approaches.
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