Gastroenterology Department, The First Hospital of China Medical University, Shenyang, Liaoning, China.
Department of Pathology, The First Hospital of China Medical University, Shenyang, Liaoning, China.
Front Immunol. 2023 May 9;14:1132072. doi: 10.3389/fimmu.2023.1132072. eCollection 2023.
Primary sclerosing cholangitis (PSC), autoimmune hepatitis (AIH), and ulcerative colitis (UC) are immune diseases of the digestive system. Some patients develop overlap syndrome, the presentation of two or more of the clinical, biochemical, immunological, and histological features of these conditions simultaneously or sequentially. The incidence of UC in PSC-AIH overlap syndrome is as high as 50%. In contrast, PSC-AIH overlap syndrome is rare in UC patients. However, because it has a low prevalence and has been studied in less detail, PSC is often misdiagnosed as primary biliary cholangitis (PBC) in its early stage. Herein, we reported a case of a 38-year-old male patient who presented to a clinician in 2014 with irregular bowel habits. A colonoscopy suggested UC. In 2016, the patient was found to have abnormal liver function and was diagnosed with PBC by pathology. He was treated with ursodeoxycholic acid (UDCA) but this had no effect on his liver function. Additional liver biopsies in 2018 indicated PBC-AIH overlap syndrome. The patient refused hormone therapy for personal reasons. Following UDCA monotherapy, his liver function remained abnormal. The patient was reexamined after repeated abnormal liver function tests and bowel symptoms. Systematic laboratory testing, imaging diagnosis, colonoscopy, liver biopsy, and various pathological examinations conducted in 2021 were used to diagnose the patient with PSC-AIH-UC overlap syndrome. He was treated with various drugs, including UDCA, methylprednisolone, mycophenolate mofetil, and mesalazine. His liver function improved significantly after treatment and follow-up is ongoing. Our case report highlights the need to raise awareness about rare and difficult-to-diagnose clinical disorders.
原发性硬化性胆管炎(PSC)、自身免疫性肝炎(AIH)和溃疡性结肠炎(UC)是消化系统的免疫性疾病。一些患者会出现重叠综合征,即同时或先后出现这些疾病的临床、生化、免疫和组织学特征中的两种或两种以上。PSC-AIH 重叠综合征中 UC 的发生率高达 50%。相比之下,UC 患者中 PSC-AIH 重叠综合征较为罕见。然而,由于其发病率低,且研究不够详细,PSC 在早期常被误诊为原发性胆汁性胆管炎(PBC)。在此,我们报告了一例 38 岁男性患者,他于 2014 年因不规则的肠道习惯就诊于临床医生。结肠镜检查提示 UC。2016 年,患者发现肝功能异常,经病理诊断为 PBC。他接受了熊去氧胆酸(UDCA)治疗,但对肝功能没有效果。2018 年的额外肝活检提示 PBC-AIH 重叠综合征。由于个人原因,患者拒绝激素治疗。在 UDCA 单药治疗后,其肝功能仍异常。由于肝功能反复异常和肠道症状,患者在重新检查后被诊断为 PSC-AIH-UC 重叠综合征。他接受了各种药物治疗,包括 UDCA、甲基强的松龙、霉酚酸酯和美沙拉嗪。在治疗和随访后,其肝功能显著改善。我们的病例报告强调了需要提高对罕见和难以诊断的临床疾病的认识。