S5629 Silent Lungs, Symptomatic Gut: Atypical Sarcoidosis Presenting With Gastrointestinal and Hepatic Manifestations

Introduction: Sarcoidosis is a chronic, multisystem granulomatous disease that rarely involves the gastrointestinal (GI) tract and liver. Gastric sarcoidosis is typically asymptomatic, with only 0.1%–0.9% of patients exhibiting symptoms. Hepatic involvement is more common, occurring in approximately 11.5% of cases, although only 5%–15% are symptomatic. We present a rare case of sarcoidosis initially manifesting with GI symptoms and weight loss, without pulmonary involvement. Case Description/Methods: A 42-year-old man with a history of hyperlipidemia and vitamin D deficiency presented with abdominal pain, alternating bowel habits, 20-pound weight loss, and imaging revealing lymphadenopathy. Physical examination showed enlarged cervical and axillary lymph nodes. Laboratory evaluation revealed elevated alkaline phosphatase (alkaline phosphatase [ALP] 159 U/L) with normal aspartate aminotransferase, ALT, and bilirubin. Computed tomography (CT) imaging demonstrated extensive mediastinal and abdominal lymphadenopathy, along with terminal ileum and cecal wall thickening. Stool studies and celiac panel were unremarkable. Esophagogastroduodenoscopy (EGD) revealed mild gastric erythema; biopsies showed mild chronic inflammation and focal non-caseating granulomas. Colonoscopy revealed benign polyps with no granulomas or mucosal abnormalities. A comprehensive workup for chronic liver disease, including viral, autoimmune, and metabolic causes, was negative except for a positive ANA (1:80), elevated IgG (2129 mg/dL), and an elevated ACE level (99 U/L). ALP isoenzyme analysis confirmed hepatic origin. Vitamin D was severely deficient. Based on serologic, histologic and imaging findings, a diagnosis of sarcoidosis with gastric and hepatic involvement was made. The patient was started on prednisone 20 mg daily and pantoprazole. Close outpatient follow-up was arranged to monitor symptoms and liver function. Discussion: This case highlights the diagnostic challenge of extrapulmonary sarcoidosis presenting with isolated GI and hepatic involvement. Early recognition is essential for appropriate management. Due to the absence of standardized guidelines, treatment remains individualized, with corticosteroids serving as the cornerstone for symptomatic disease.

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Publication Details

Journal
The American Journal of Gastroenterology
Published
2025-10-01
DOI
https://doi.org/10.14309/01.ajg.0001149976.51914.f5
Primary Topic
Sarcoidosis and Beryllium Toxicity Research
Type
article
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article

S5629 Silent Lungs, Symptomatic Gut: Atypical Sarcoidosis Presenting With Gastrointestinal and Hepatic Manifestations

Camelia Ciobanu, Arnold Forlemu, Manasa Ginjupalli, Amr Dokmak et al.
The American Journal of Gastroenterology
Sarcoidosis and Beryllium Toxicity Research
article

S5629 Silent Lungs, Symptomatic Gut: Atypical Sarcoidosis Presenting With Gastrointestinal and Hepatic Manifestations

Camelia Ciobanu, Arnold Forlemu, Manasa Ginjupalli, Amr Dokmak, Madhavi Reddy
article en

Abstract

Introduction: Sarcoidosis is a chronic, multisystem granulomatous disease that rarely involves the gastrointestinal (GI) tract and liver. Gastric sarcoidosis is typically asymptomatic, with only 0.1%–0.9% of patients exhibiting symptoms. Hepatic involvement is more common, occurring in approximately 11.5% of cases, although only 5%–15% are symptomatic. We present a rare case of sarcoidosis initially manifesting with GI symptoms and weight loss, without pulmonary involvement. Case Description/Methods: A 42-year-old man with a history of hyperlipidemia and vitamin D deficiency presented with abdominal pain, alternating bowel habits, 20-pound weight loss, and imaging revealing lymphadenopathy. Physical examination showed enlarged cervical and axillary lymph nodes. Laboratory evaluation revealed elevated alkaline phosphatase (alkaline phosphatase [ALP] 159 U/L) with normal aspartate aminotransferase, ALT, and bilirubin. Computed tomography (CT) imaging demonstrated extensive mediastinal and abdominal lymphadenopathy, along with terminal ileum and cecal wall thickening. Stool studies and celiac panel were unremarkable. Esophagogastroduodenoscopy (EGD) revealed mild gastric erythema; biopsies showed mild chronic inflammation and focal non-caseating granulomas. Colonoscopy revealed benign polyps with no granulomas or mucosal abnormalities. A comprehensive workup for chronic liver disease, including viral, autoimmune, and metabolic causes, was negative except for a positive ANA (1:80), elevated IgG (2129 mg/dL), and an elevated ACE level (99 U/L). ALP isoenzyme analysis confirmed hepatic origin. Vitamin D was severely deficient. Based on serologic, histologic and imaging findings, a diagnosis of sarcoidosis with gastric and hepatic involvement was made. The patient was started on prednisone 20 mg daily and pantoprazole. Close outpatient follow-up was arranged to monitor symptoms and liver function. Discussion: This case highlights the diagnostic challenge of extrapulmonary sarcoidosis presenting with isolated GI and hepatic involvement. Early recognition is essential for appropriate management. Due to the absence of standardized guidelines, treatment remains individualized, with corticosteroids serving as the cornerstone for symptomatic disease.

The American Journal of GastroenterologyVol. 120(10S2)
Openalex Percentile: Top 51%
Sarcoidosis and Beryllium Toxicity Research
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