淋巴管肌瘤病生物标志物研究新进展

New research progress in biomarkers of lymphangioleiomyomatosis

淋巴管肌瘤病(LAM)是一种罕见的多系统疾病,好发于育龄期女性,其特征是弥漫性肺部囊性病变,临床通常表现为进行性加重的呼吸困难和反复发作性气胸或乳糜胸。美国胸科协会联合日本呼吸学会发布的LAM诊断和管理临床指南提出具有多发薄壁囊腔弥漫分布的特征性胸部高分辨CT改变,同时血清血管内皮生长因子-D异常升高,可以不必进行肺活检即可诊断。尽管在诊断程序方面取得了进展,但LAM的漏诊、误诊仍不少见,迫切需要新的非侵入性生物标志物用于疾病早期诊断、鉴别诊断、预后和疗效评价。该文总结了近年来新兴的LAM非侵入性生物标志物,通过多种标志物的组合可以帮助临床医师更全面评价疾病,提高肺部罕见病的诊治能力。

Lymphangioleiomyomatosis(LAM)is a rare multisystem disease that occurs most frequently in women of childbearing age and is characterised by diffuse cystic lung lesions that usually present clinically as progressively worsening dyspnoea and recurrent episodes of pneumothorax or chylothorax.The clinical guidelines for the diagnosis and management of LAM published by the American Thoracic Society in association with the Japanese Respiratory Society suggest that patients with characteristic high-resolution computed tomography(HRCT)changes in the chest with diffuse distribution of multiple thin-walled cystic cavities and abnormally elevated serum vascular endothelial growth factor-D can be diagnosed as LAM without lung biopsy.Despite advances in diagnostic procedures,missed diagnosis and misdiagnosis of LAM are still not uncommon and new non-invasive biomarkers are urgently needed for early diagnosis,differential diagnosis,prognostic evaluation and therapeutic response evaluation of the disease.In this review,we summarise the emerging non-invasive biomarkers of LAM in recent years,hoping that the combination of multiple markers can help clinicians evaluated the disease more comprehensively and improve their ability to diagnose and treat rare diseases of the lungs.