Internal medicine department, Sahloul university hospital, Sousse, Tunisia. Faculty of medicine, University of Sousse, Tunisia.
Tunis Med. 2024 Feb 5;102(2):119-123. doi: 10.62438/tunismed.v102i2.4647.
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.
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.
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.
自身免疫性疾病常表现出相互关联，尽管在单个患者中同时出现多种自身免疫性疾病并不常见。多种自身免疫综合征的特征是个体中存在至少三种不同的自身免疫性疾病。本报告概述了一名中年女性的病例，该女性被诊断患有自身免疫性甲状腺炎、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氨酰基-tRNA 合成酶抗体相关综合征。此外，还包括了一份涵盖涉及五种或更多自身免疫性疾病的多种自身免疫综合征的文献综述。
一名 57 岁女性，无既往病史，出现发热、广泛肌肉无力、进行性劳累性呼吸困难、炎性多关节炎、吞咽困难和口干。临床检查显示肩胛带和骨盆带肌肉缺陷、远端肌肉缺陷、手腕关节炎和“技工手”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促甲状腺激素升高。免疫测定显示抗核抗体、抗组氨酰-tRNA 合成酶、抗干燥综合征相关抗原 A、抗 RNA 聚合酶 III-RP155、抗核仁纤维蛋白、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阳性。进一步的调查导致了多种自身免疫综合征的诊断，包括自身免疫性甲状腺炎、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氨酰基-tRNA 合成酶抗体相关综合征。患者接受了静脉注射免疫球蛋白、皮质类固醇、硫唑嘌呤和熊去氧胆酸治疗，取得了良好的临床和生物学结果。
该患者同时存在六种不同的自身免疫性疾病，将该病例归类为 2 型多种自身免疫综合征。氨酰基-tRNA 合成酶抗体相关综合征的识别显著区分了该病例。
