Baldi Bruno Guedes, Feitosa Paulo Henrique Ramos, Rubin Adalberto Sperb, Amaral Alexandre Franco, Freitas Carolina Salim Gonçalves, Costa Cláudia Henrique da, Mancuzo Eliane Viana, Nascimento Ellen Caroline Toledo do, Araujo Mariana Sponholz, Rocha Marcelo Jorge Jacó, Oliveira Martina Rodrigues de, Galvão Tatiana Senna, Torres Pedro Paulo Teixeira E Silva, Carvalho Carlos Roberto Ribeiro
. Divisao de Pneumologia, Instituto do Coracao - InCor - Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo - HCFMUSP - São Paulo (SP) Brasil.
. Hospital da Asa Norte, Brasília (DF) Brasil.
J Bras Pneumol. 2025 Feb 10;51(1):e20240378. doi: 10.36416/1806-3756/e20240378. eCollection 2025.
Lymphangioleiomyomatosis (LAM) is a rare disease, characterized as a low-grade neoplasm with metastatic potential that mainly affects women of reproductive age, in which there is proliferation of atypical smooth muscle cells (LAM cells) and formation of diffuse pulmonary cysts. It can occur in a sporadic form or in combination with tuberous sclerosis complex. In recent decades, a number of advances have been made in the understanding of the pathophysiology and management of LAM, leading to improvements in its prognosis: identification of the main genetic aspects and the role of the mechanistic target of rapamycin (mTOR) pathway; relationship with hormonal factors, mainly estrogen; characterization of pulmonary and extrapulmonary manifestations in imaging studies; identification and importance in the diagnosis of VEGF-D; a systematic diagnostic approach, often without the need for lung biopsy; use of and indications for the use of mTOR inhibitors, mainly sirolimus, for pulmonary and extrapulmonary manifestations; pulmonary rehabilitation and the management of complications such as pneumothorax and chylothorax; and the role of and indications for lung transplantation. To date, no Brazilian recommendations for a comprehensive approach to the disease have been published. This document is the result of a non-systematic review of the literature, carried out by 12 pulmonologists, a radiologist, and a pathologist, which aims to provide an update of the most important topics related to LAM, mainly to its diagnosis, treatment, and follow-up, including practical and multidisciplinary aspects of its management.
淋巴管平滑肌瘤病（LAM）是一种罕见疾病，其特征为具有转移潜能的低度肿瘤，主要影响育龄女性，表现为非典型平滑肌细胞（LAM细胞）增殖和弥漫性肺囊肿形成。它可散发出现，或与结节性硬化症综合征合并出现。近几十年来，在LAM的病理生理学理解和管理方面取得了多项进展，从而改善了其预后：确定了主要遗传因素以及雷帕霉素靶蛋白（mTOR）通路的作用；与激素因素（主要是雌激素）的关系；影像学研究中肺内和肺外表现的特征；血管内皮生长因子D（VEGF-D）在诊断中的识别及其重要性；一种系统的诊断方法，通常无需肺活检；mTOR抑制剂（主要是西罗莫司）用于肺内和肺外表现的使用方法及适应证；肺康复以及气胸和乳糜胸等并发症的管理；以及肺移植的作用和适应证。迄今为止，巴西尚未发布针对该疾病综合治疗方法的建议。本文献是由12名肺科医生、1名放射科医生和1名病理科医生对文献进行非系统综述的结果，旨在提供与LAM相关的最重要主题的最新信息，主要涉及其诊断、治疗和随访，包括其实践和多学科管理方面。
