Center for Interstitial and Rare Lung Diseases, Pneumology and Critical Care Medicine, Thoraxklinik, University of Heidelberg, Heidelberg, Germany.
Translational Lung Research Center Heidelberg, Member of the German Center for Lung Research DZL, Heidelberg, Germany.
Respir Res. 2024 Nov 26;25(1):416. doi: 10.1186/s12931-024-03040-5.
Pulmonary lymphangiomatosis (PL) is an ultrarare disease characterized by diffuse infiltration of the lung, pleura and/or mediastinum by abnormal lymphatic proliferation. Consented diagnostic or treatment approaches are not established. We therefore aimed to collect data on diagnostics and treatments in a cohort of patients with PL from a tertiary center for rare lung diseases.
Clinical, radiological and outcome data from PL patients were collected retrospectively.
12 patients were diagnosed between 1996 and 2022 in our center. PL was diagnosed more commonly in female (58%), never smokers (75%) and younger patients (mean age 42 years). Main clinical symptoms comprised haem- and chyloptysis (58%) and dyspnea on exertion (83%). Pulmonary function was mostly restrictive (mean VC 59%) with impaired DLCO (mean 65%). Radiological assessment mainly showed mediastinal involvement (83%), and pleural effusion (67%), pleural thickening (67%) and bronchial wall thickening (67%) while interstitial changes were rare. Diagnosis was confirmed by surgical or transbronchial cryobiopsy. 8 patients were treated with sirolimus, 3 of these combined with a surgical intervention and in one case surgical intervention was necessary 9 months after initiation of sirolimus. Clinical and radiological improvement was demonstrated for all patients treated with sirolimus. 1 patient received a lung transplant due disease progression. Survival rates were 90% after a mean follow up of at least 3 months.
This case series illustrates the variability of the clinical presentation of PL. Among our patients, those treated with sirolimus showed significant clinical, functional and radiological improvement. However, further investigation is needed to understand the pathogenesis of lymphangiomatosis in order to establish therapeutic approaches.
肺淋巴管肌瘤病（PL）是一种极为罕见的疾病，其特征为肺部、胸膜和/或纵隔被异常淋巴样增殖弥漫浸润。目前尚无明确的诊断或治疗方法。因此，我们旨在从一家三级罕见肺病中心收集 PL 患者的诊断和治疗数据。
回顾性收集 PL 患者的临床、影像学和结局数据。
在我们中心，1996 年至 2022 年间共诊断出 12 例 PL 患者。PL 更常见于女性（58%）、从不吸烟（75%）和年轻患者（平均年龄 42 岁）。主要临床症状包括咯血和乳糜胸（58%）以及运动性呼吸困难（83%）。肺功能多为限制性（平均 VC 59%），DLCO 降低（平均 65%）。影像学评估主要显示纵隔受累（83%），胸腔积液（67%）、胸膜增厚（67%）和支气管壁增厚（67%），而间质性改变罕见。诊断通过手术或经支气管冷冻活检证实。8 例患者接受了西罗莫司治疗，其中 3 例联合了手术干预，1 例在开始使用西罗莫司 9 个月后需要手术干预。所有接受西罗莫司治疗的患者均显示出临床和影像学改善。1 例患者因疾病进展而行肺移植。在至少 3 个月的随访后，生存率为 90%。
本病例系列说明了 PL 的临床表现具有多样性。在我们的患者中，接受西罗莫司治疗的患者显示出显著的临床、功能和影像学改善。然而，为了确定治疗方法，还需要进一步研究以了解淋巴管肌瘤病的发病机制。
