PDF(Pubmed)
Abstract：
Autoimmune hepatitis (AIH) is a condition resulting in chronic, inflammatory changes to the liver. Primary biliary cholangitis (PBC) is an autoimmune condition that destroys intrahepatic bile ducts. Overlap syndrome with concomitant AIH and PBC comprises a rare subgroup of patients with immune-mediated liver disease, with incidence rates of male patients being exceedingly uncommon in a predominantly female patient population. Our case report investigates a rare case of a 41-year-old male patient diagnosed with overlapping AIH and PBC. He initially presented with symptoms of fatigue, pruritus, and episodes of Raynaud\'s phenomenon, in addition to findings of persistently elevated liver enzymes despite lifestyle modifications. He had no past medical history, no history of alcohol use disorder, and no family medical history of chronic liver disease. Imaging did not reveal evidence of cirrhosis. Further diagnostic workup was significant for elevated immunologic markers for antinuclear antibodies (ANA) with positive centromere and cytoplasmic patterns, antimitochondrial antibodies (AMA) with F-actin antibodies, anti-smooth muscle antibodies (ASMA), and cytoplasmic antinuclear cytoplasmic antibodies (ANCA C). Liver biopsy showed prominent plasma cells and rare granulomas, consistent with the diagnosis of AIH with a component of PBC, respectively. He was started on ursodeoxycholic acid (UDCA), demonstrating a near-complete clinical response with resolution of symptoms and normalization of liver enzymes. Studies investigating the low incidence of male patients with overlap syndrome are limited, as current research is overwhelmingly based on studies with predominantly female subjects. However, most studies generally recommend treatment with both UDCA and corticosteroids to reduce symptoms and biochemical markers. Our case report highlights a rare case of a male patient documenting excellent biochemical and clinical responses to monotherapy with UDCA. A possible theory is that our patient\'s early treatment (prior to advanced disease progression) is associated with his near-complete biochemical response and symptomatic resolution on UDCA alone. Further research is needed to fully understand the clinical course and long-term prognosis of male patients with overlap syndrome. Our patient remains in life-long follow-up to monitor if or when he requires treatment with corticosteroids in addition to current monotherapy with UDCA..
摘要：
自身免疫性肝炎（AIH）是一种导致慢性，肝脏的炎症变化。原发性胆汁性胆管炎（PBC）是一种自身免疫性疾病，可破坏肝内胆管。合并AIH和PBC的重叠综合征包括一个罕见的免疫介导性肝病患者亚组，男性患者的发病率在以女性为主的人群中极为罕见。我们的病例报告调查了一名41岁男性患者的罕见病例，该患者被诊断为AIH和PBC重叠。他最初表现为疲劳症状，瘙痒,和雷诺现象的情节，除了发现持续升高的肝酶，尽管改变了生活方式。他没有既往病史,没有饮酒史,无慢性肝病家族史。影像学没有发现肝硬化的证据。对于着丝粒和细胞质模式阳性的抗核抗体（ANA）的免疫标志物升高，进一步的诊断检查具有重要意义。抗线粒体抗体（AMA）与F-肌动蛋白抗体，抗平滑肌抗体（ASMA），和细胞质抗核细胞质抗体（ANCAC）。肝活检显示突出的浆细胞和罕见的肉芽肿，与带有PBC成分的AIH的诊断一致，分别。他开始服用熊去氧胆酸(UDCA)，表现出接近完全的临床反应，症状消退和肝酶正常化。关于男性重叠综合征发病率低的研究是有限的，因为目前的研究绝大多数是基于主要是女性受试者的研究。然而,大多数研究通常推荐使用UDCA和皮质类固醇治疗,以减轻症状和生化指标.我们的病例报告重点介绍了一例罕见的男性患者，该患者记录了对UDCA单一疗法的出色生化和临床反应。一种可能的理论是，我们的患者的早期治疗（在晚期疾病进展之前）与他的接近完全的生化反应和仅在UDCA上的症状缓解有关。需要进一步的研究来充分了解男性重叠综合征患者的临床过程和长期预后。我们的患者仍在终身随访中，以监测他是否或何时需要使用皮质类固醇治疗，以及目前使用UDCA的单一疗法。.
