背景:自身免疫性疾病通常表现出相互关联性,尽管在单个患者中遇到多种自身免疫性疾病并不常见。多发性自身免疫综合征的特征在于个体中存在至少三种不同的自身免疫疾病。本报告概述了一名中年妇女被诊断患有自身免疫性甲状腺炎的病例,干燥综合征,硬皮病,自身免疫性肝炎,原发性胆汁性肝硬化,和抗合成酶综合征.此外,它包括一个文献综述,包括涉及5种或更多自身免疫性疾病的多种自身免疫综合征.
方法:一位57岁的女性,没有既往病史,出现发烧,广泛的肌肉无力,进行性劳力性呼吸困难,炎症性多关节痛,吞咽困难,口干。临床检查显示肩胛骨和骨盆带肌肉缺损,远端肌肉缺损,手腕滑膜炎,和“机械师的手”的特征。实验室检查显示细胞溶解,胆汁淤积,肌肉酶升高,高丙种球蛋白血症和甲状腺刺激激素升高。免疫测定显示抗核抗体阳性结果,抗组氨酸-t-RNA合成酶,抗干燥综合征相关抗原A,抗核糖核酸聚合酶-III-RP155,抗原纤维素,抗线粒体,抗肝/肾微粒体1型,抗糖蛋白210和抗甲状腺过氧化物酶抗体。进一步的研究导致诊断为涉及自身免疫性甲状腺炎的多重自身免疫综合征。干燥综合征,硬皮病,自身免疫性肝炎,原发性胆汁性肝硬化,和抗合成酶综合征.患者接受静脉注射免疫球蛋白治疗,皮质类固醇,硫唑嘌呤,和熊去氧胆酸,这导致了良好的临床和生物学结果。
结论:该患者同时出现6种明显的自身免疫性疾病,将此病例归类为2型多重自身免疫综合征。抗合成酶综合征的鉴定显着区分了这种情况。
BACKGROUND: Autoimmune disorders often exhibit interconnectedness, although encountering multiple autoimmune conditions in a single patient is uncommon. Multiple autoimmune syndrome is characterized by the presence of at least three distinct autoimmune diseases in an individual. This report outlines the
case of a middle-aged woman diagnosed with autoimmune thyroiditis, Sjögren\'s syndrome, scleroderma, autoimmune hepatitis, primary biliary cirrhosis, and antisynthetase syndrome. Additionally, it includes a literature review encompassing multiple autoimmune syndromes involving five or more autoimmune diseases.
METHODS: A 57-year-old woman, with no previous medical history, presented with fever, extensive muscle weakness, progressive exertional dyspnea, inflammatory polyarthralgia, dysphagia, and dry mouth. Clinical examination revealed muscular deficit in the scapular and pelvic girdles, distal muscular deficit, synovitis in the wrists, and features indicative of \"mechanic\'s hand\". Laboratory examinations showed cytolysis, cholestasis, elevated muscle enzymes, hypergammaglobulinemia and elevated thyroid stimulating hormone. Immunoassays showed positive results for antinuclear antibodies, anti-histidyl-t-RNA synthetase, anti-Sjögren\'s-syndrome-related antigen A, anti-ribonucleic-acid-polymerase-III-RP155, anti-fibrillarin, anti-mitochondrial, anti-liver/kidney microsomal type 1, anti-glycoprotein 210, and anti-thyroid peroxidase antibodies. Further investigations led to the diagnosis of a multiple autoimmune syndrome involving autoimmune thyroiditis, Sjögren\'s syndrome, scleroderma, autoimmune hepatitis, primary biliary cirrhosis, and antisynthetase syndrome. The patient received treatment with intravenous immunoglobulins, corticosteroids, azathioprine, and ursodeoxycholic acid, which resulted in favorable clinical and biological outcomes.
CONCLUSIONS: This patient presented with six concurrent distinct autoimmune disorders, categorizing this
case as a type two multiple autoimmune syndrome. The identification of antisynthetase syndrome notably distinguishes this
case.