UO di Pneumologia e Terapia Semi-Intensiva Respiratoria - Servizio di Fisiopatologia Respiratoria ed Emodinamica Polmonare, MultiMedica IRCCS, Via San Vittore 12, 20123 Milan, Italy.
UO di Pneumologia e Terapia Semi-Intensiva Respiratoria - Servizio di Fisiopatologia Respiratoria ed Emodinamica Polmonare, MultiMedica IRCCS, Via San Vittore 12, 20123 Milan, Italy; Department of Clinical Sciences and Community Health, - Università degli Studi di Milano, 20123 Milan, Italy.
Presse Med. 2023 Sep;52(3):104173. doi: 10.1016/j.lpm.2023.104173. Epub 2023 Sep 9.
Lymphangioleiomyomatosis (LAM) is an ultra-rare, slowly progressive neoplastic cystic disease, belonging to the group of PEComas. It can occur sporadically or associated to tuberous sclerosis complex disease and affects mainly women in child-birth age. Dyspnoea is the most frequent symptom referred to the time of diagnosis, however spontaneous pneumothorax may be a typical presentation associated to extrathoracic manifestations, such as renal angiomyolipomas. In the last decade, important advances in understanding molecular mechanisms underlying the LAM pathogenesis have been reached. It has allowed to obtain improvements in the research of novel biomarkers, treatment and a better management of the disease.
淋巴管平滑肌瘤病（LAM）是一种超罕见的、缓慢进展的肿瘤性囊性疾病，属于错构瘤群。它可以散发性发生，也可以与结节性硬化症相关，主要影响育龄妇女。呼吸困难是诊断时最常见的症状，但自发性气胸可能是一种与肾血管平滑肌脂肪瘤等胸外表现相关的典型表现。在过去十年中，人们对 LAM 发病机制的分子机制有了更深入的了解，这使得在新型生物标志物的研究、治疗和疾病管理方面取得了进展。
