Centre de Référence Coordinateur des maladies pulmonaires rares (OrphaLung), Hôpital Louis Pradel, Hospices Civils de Lyon, 28 avenue Doyen Lepine, ERN-LUNG, 69677 Lyon, France; UMR 754, INRAE, Université Claude Bernard Lyon 1, 8 avenue Rockefeller, 69008 Lyon, France.
Centre de Compétence des maladies pulmonaires rares (OrphaLung), GH Sud Haut-Lévêque, Avenue Magellan, 33600 Pessac, France.
Respir Med Res. 2023 Jun;83:101010. doi: 10.1016/j.resmer.2023.101010. Epub 2023 Mar 24.
The present article is an English-language version of the French National Diagnostic and Care Protocol, a pragmatic tool to optimize and harmonize the diagnosis, care pathway, management and follow-up of lymphangioleiomyomatosis in France.
Practical recommendations were developed in accordance with the method for developing a National Diagnosis and Care Protocol for rare diseases of the Haute Autorité de Santé and following international guidelines and literature on lymphangioleiomyomatosis. It was developed by a multidisciplinary group, with the help of patient representatives and of RespiFIL, the rare disease network on respiratory diseases.
Lymphangioleiomyomatosis is a rare lung disease characterised by a proliferation of smooth muscle cells that leads to the formation of multiple lung cysts. It occurs sporadically or as part of a genetic disease called tuberous sclerosis complex (TSC). The document addresses multiple aspects of the disease, to guide the clinicians regarding when to suspect a diagnosis of lymphangioleiomyomatosis, what to do in case of recurrent pneumothorax or angiomyolipomas, what investigations are needed to make the diagnosis of lymphangioleiomyomatosis, what the diagnostic criteria are for lymphangioleiomyomatosis, what the principles of management are, and how follow-up can be organised. Recommendations are made regarding the use of pharmaceutical specialties and treatment other than medications.
These recommendations are intended to guide the diagnosis and practical management of pulmonary lymphangioleiomyomatosis.
本文是法国国家诊断和护理方案的英文版本，这是一种实用工具，旨在优化和协调法国淋巴管平滑肌瘤病的诊断、护理途径、管理和随访。
根据法国卫生署高级管理局制定的罕见病国家诊断和护理方案的方法，以及关于淋巴管平滑肌瘤病的国际指南和文献，制定了实用建议。该方案由一个多学科小组制定，在患者代表和呼吸道罕见病网络 RespiFIL 的帮助下完成。
淋巴管平滑肌瘤病是一种罕见的肺部疾病，其特征是平滑肌细胞的增殖，导致多个肺囊肿的形成。它可以是散发性的，也可以是作为一种叫做结节性硬化症复合征（TSC）的遗传性疾病的一部分。该文件涉及该疾病的多个方面，旨在指导临床医生何时怀疑淋巴管平滑肌瘤病的诊断，在出现复发性气胸或血管平滑肌脂肪瘤时该怎么办，做出淋巴管平滑肌瘤病诊断需要哪些检查，淋巴管平滑肌瘤病的诊断标准是什么，管理原则是什么，以及如何组织随访。还针对药物治疗以外的药物和治疗方法提出了建议。
这些建议旨在指导肺部淋巴管平滑肌瘤病的诊断和实际管理。
