Navigating Challenges in a Case of Unusual Hepatic and Pulmonar Sarcoidosis: A Comprehensive Clinical Journey.

IF 0.8 Q4 GASTROENTEROLOGY & HEPATOLOGY GE Portuguese Journal of Gastroenterology Pub Date : 2024-06-18 eCollection Date: 2025-02-01 DOI:10.1159/000539226
André Gonçalves, Diogo Simas, Plácido Gomes, Carinal Leal, Catarina Atalaia-Martins, Helena Vasconcelos
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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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导航挑战在一个不寻常的肝和肺结节病病例:一个全面的临床旅程。
结节病是一种病因不明的系统性肉芽肿性疾病,通常累及肺部,少量累及肝脏。病例介绍:一名健康的35岁刚果女性入院,有7个月的黄疸、瘙痒和体重减轻史。尽管肝损伤伴有明显的胆汁淤积型混合肝炎,但入院实验室检查肝功能仍正常。扩大的病理学研究未发现感染、自身免疫、重金属中毒和代谢性疾病。影像学检查与组织活检相一致,诊断为肝和肺结节病伴胆管消失综合征。尽管最初使用熊去氧胆酸和皮质类固醇治疗,但患者表现出意想不到的肝酶恶化,促使仔细考虑二线干预。在与三级中心讨论并全面回顾文献后,由于反应不足,决定不加强治疗。认识到管理晚期病例的持续挑战和疾病的潜在进展过程,患者被转介到三级移植中心。目前在门诊随访,临床及分析稳定,无靶向治疗。结论:本病例报告详细介绍了一种罕见的肝结节病的实验室模式,强调了诊断和治疗在识别肝结节病的非典型表现方面的挑战。管理晚期病例的复杂性需要多学科的方法,关于这一主题的有限文献强调了更全面了解结节病以提高诊断准确性和改进治疗方法的紧迫性。
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来源期刊
GE Portuguese Journal of Gastroenterology
GE Portuguese Journal of Gastroenterology GASTROENTEROLOGY & HEPATOLOGY-
CiteScore
1.60
自引率
11.10%
发文量
62
审稿时长
21 weeks
期刊介绍: The ''GE Portuguese Journal of Gastroenterology'' (formerly Jornal Português de Gastrenterologia), founded in 1994, is the official publication of Sociedade Portuguesa de Gastrenterologia (Portuguese Society of Gastroenterology), Sociedade Portuguesa de Endoscopia Digestiva (Portuguese Society of Digestive Endoscopy) and Associação Portuguesa para o Estudo do Fígado (Portuguese Association for the Study of the Liver). The journal publishes clinical and basic research articles on Gastroenterology, Digestive Endoscopy, Hepatology and related topics. Review articles, clinical case studies, images, letters to the editor and other articles such as recommendations or papers on gastroenterology clinical practice are also considered. Only articles written in English are accepted.
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