Medicine, Temple University Hospital, Philadelphia, Pennsylvania, USA
Medicine, Temple University Hospital, Philadelphia, Pennsylvania, USA.
BMJ Case Rep. 2023 Jun 5;16(6):e255130. doi: 10.1136/bcr-2023-255130.
Anti-synthetase syndrome (ASS) is a rare inflammatory myopathy with a wide variety of clinical presentations. ASS-related interstitial lung disease (ASS-ILD) presents with rapid onset and progression, which could often be confused with other more common acute processes such as pneumonia, especially when ILD can be the sole manifestation. A woman in her 50s presented with recurrent dyspnoea for 2 months requiring multiple hospital admissions, and each time, she was diagnosed with multifocal pneumonia and treated with antibiotics. On admission, the evaluation revealed a markedly elevated creatine kinase level at 3258 U/L and a CT scan of the chest revealed worsening scattered ground-glass opacities. Given the concern for ILD as the cause of antibiotic failure, she underwent bronchoscopy with bronchoalveolar lavage which revealed non-specific interstitial pneumonia. A subsequent myositis panel revealed a positive anti-Jo-1 antibody, and she was diagnosed with ASS-ILD. She completed a course of intravenous immunoglobulin and methylprednisolone and experienced significant clinical improvement with the resolution of hypoxaemia and improved polyarthralgia.ASS could often be misdiagnosed as other more common acute lung processes, as a clinically subtle course can escape detection given its rarity, as well as its non-specific and highly variable presentations. This case highlights the importance of early suspicion and consideration of performing specific autoantibody testing when evaluating patients with a suspicion of undifferentiated autoimmune condition.
抗合成酶综合征(ASS)是一种罕见的炎性肌病,临床表现多种多样。ASS 相关的间质性肺病(ASS-ILD)起病急、进展快,常与其他更常见的急性过程混淆,如肺炎,尤其是当ILD 是唯一表现时。一位 50 多岁的女性因反复发作性呼吸困难 2 个月而多次住院,每次都被诊断为多灶性肺炎,并接受抗生素治疗。入院时,评估显示肌酸激酶水平显著升高,达 3258U/L,胸部 CT 扫描显示弥漫性磨玻璃影加重。由于担心 ILD 是抗生素治疗失败的原因,她接受了支气管镜检查和肺泡灌洗,结果显示为非特异性间质性肺炎。随后的肌炎检测小组显示抗 Jo-1 抗体阳性,她被诊断为 ASS-ILD。她接受了静脉注射免疫球蛋白和甲基强的松龙治疗,临床症状显著改善,低氧血症得到纠正,多发性关节炎也得到缓解。ASS 常被误诊为其他更常见的急性肺部疾病,因为其罕见性、非特异性和高度多变的表现,使隐匿性病程难以被发现。这个病例强调了在评估疑似未分化自身免疫性疾病的患者时,早期怀疑和考虑进行特定自身抗体检测的重要性。