Yan Ruo-Nan, Zhang Yi, Yang Shu-Guang, Yu Xue-Qing
Department of Respiratory Medicine, The First Affiliated Hospital of Henan University of Chinese Medicine, Zhengzhou, CHN.
The First College for Clinical Medicine, Henan University of Chinese Medicine, Zhengzhou, CHN.
Cureus. 2025 Aug 13;17(8):e89956. doi: 10.7759/cureus.89956. eCollection 2025 Aug.
Primary Sjögren's syndrome (pSS) is a chronic autoimmune disorder that can involve the lungs, leading to interstitial lung disease (ILD) and lymphoproliferative disorders. Lymphangioleiomyomatosis (LAM) is a rare neoplastic disorder in ILD. Co-occurrence of these diseases is exceptionally rare. We report the case of a 47-year-old woman who presented with a persistent cough, initially misdiagnosed as a nonspecific respiratory condition. Empirical therapy proved ineffective. As her cough worsened and was accompanied by xerostomia and xerophthalmia, a comprehensive examination prompted a diagnosis of pSS. Although glucocorticoids and immunomodulatory therapy alleviated her sicca symptoms, the cough persisted. High-resolution computed tomography revealed cystic cavities, which were initially mistaken for bullous emphysema. The refractory cough prompted further investigation, and lung biopsy and elevated serum vascular endothelial growth factor-D confirmed LAM. Sirolimus significantly ameliorated the cough severity, while corticosteroid combined with immunosuppressive agents was continued for pSS management. Follow-up found that the patient's symptoms remained stable. This rare case underscores the diagnostic challenges of overlapping rare diseases and highlights the critical role of multidisciplinary assessment, pulmonary imaging, and histopathological examination in achieving an accurate diagnosis.
原发性干燥综合征(pSS)是一种慢性自身免疫性疾病,可累及肺部,导致间质性肺疾病(ILD)和淋巴增殖性疾病。淋巴管平滑肌瘤病(LAM)是ILD中的一种罕见肿瘤性疾病。这些疾病同时出现极为罕见。我们报告一例47岁女性病例,该患者持续咳嗽,最初被误诊为非特异性呼吸道疾病。经验性治疗证明无效。随着咳嗽加重并伴有口干和眼干,全面检查后诊断为pSS。尽管糖皮质激素和免疫调节治疗缓解了她的干燥症状,但咳嗽仍持续存在。高分辨率计算机断层扫描显示有囊性空洞,最初被误诊为大疱性肺气肿。难治性咳嗽促使进一步检查,肺活检和血清血管内皮生长因子-D升高证实为LAM。西罗莫司显著改善了咳嗽严重程度,同时继续使用皮质类固醇联合免疫抑制剂治疗pSS。随访发现患者症状保持稳定。这个罕见病例强调了重叠罕见病的诊断挑战,并突出了多学科评估、肺部影像学和组织病理学检查在准确诊断中的关键作用。