系统性硬化病合并原发性胆汁性肝硬化的临床分析及文献复习

Clinical features of primary biliary cirrhosis associated with systemic sclerosis

目的 探讨系统性硬化病（SSc）合并原发性胆汁性肝硬化（PBC）患者的临床特征,提高对此重叠综合征的认识.方法 收集北京协和医院2005年4月至20l0年4月确诊为SSc合并PBC的病例资料,对符合条件的9例患者的临床表现、实验室检查和组织病理检查进行分析.同时进行文献复习,与国外资料进行比较.结果 ①9例患者中男性1例,女性8例,平均年龄（54±8）岁;以SSc起病者7例,以PBC起病者2例,二病发生间隔1～8年、平均（4.3±2.3）年.②弥漫型SSc（dcSSc）仅1例,而局限型SSc（lcSSc）8例（完全型CREST综合征2例,不完全型5例）,8例有雷诺现象和食管运动功能障碍,并均以雷诺现象起病.有PBC临床表现者5例,亚临床型4例,胆管酶升高8例,2例行肝穿刺病理检查为PBC的Ⅰ和Ⅱ期.③抗核抗体均阳性,抗着丝点抗体（ACA）阳性8例,抗线粒体抗体（AMA）阳性9例,AMAM2阳性8例.④早期给予糖皮质激素和熊去氧胆酸治疗有效,3例因肺间质纤维化、肺动脉高压和肝硬化疗效欠佳.结论 SSc可以合并PBC,以lcSSc、尤其是CREST综合征多见,筛查ACA、AMA、AMA-M2可早期识别SSc合并PBC,早期干预有助改善预后.

Objective To assess the clinical features of primary biliary cirrhosis（PBC）associated with systemic sclerosis（SSc）in order to facilitate recognition of this overlap syndrome（SSc-PBC）. Methods The clinical data of 9 patients with SSc-PBC in Peking Union Medical College Hospital were retrospectively studied with literature review. Results ① Nine patients including 8 female were at a mean age of（54±8）years. Sevene patients initially presented with SSc and developed PBC over（4.3±2.3）years. ② Eight patients were diagnosed limited cutaneous SSc（leSSc）, which included 7 patients with CREST syndrome. The most frequent manifestations were Raynaud＇s phenomenon（8/9）and esophageal dysfunction（8/9）. Four patients with PBC manifested subclinically, but laboratory results revealed increased ALP/GGT in most patients（8/9）.Two patients received liver biopsies, which confirmed the diagnosis of PBC. ③ Antinuclear antibodies（ANA）and anti-mitochondrial antibody（AMA）were detected in all the patients, among them, 8 with positive anticentromere antibody（ACA）and 8 with positive AMA-M2. ④ UDCA and glucocorticosteroid might help early stage patients with SSc-PBC, but lack efficacy in patients complicated with interstitial lung disease, pulmonary hypertension or cirrhosis. Conclusion PBC might be overlapped with SSc, especially lcSSc（CREST syndrome）. Screening of autoantibodies, such as ACA, AMA and AMA-M2, could help rheumatologists early recognition of SSc-PBC and improve the prognosis of this overlap syndrome by early intervention.