Bruno Guedes Baldi1, Paulo Henrique Ramos Feitosa2, Adalberto Sperb Rubin3, Alexandre Franco Amaral1, Carolina Salim Gonçalves Freitas4, Cláudia Henrique da Costa5a, Eliane Viana Mancuzo6a, Ellen Caroline Toledo do Nascimento7a, Mariana Sponholz Araujo8a, Marcelo Jorge Jacó Rocha9, Martina Rodrigues de Oliveira1, Tatiana Senna Galvão10, Pedro Paulo Teixeira e Silva Torres11, Carlos Roberto Ribeiro Carvalho1
J Bras Pneumol.2025;51(1):e20240378
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.
Keywords: Lymphangioleiomyomatosis/diagnosis; Lymphangioleiomyomatosis/prevention & control; Lymphangioleiomyomatosis/pathophysiology; Lymphangioleiomyomatosis/drug treatment; Lymphangioleiomyomatosis/therapy; Clinical practice guide.
