Lymphangioleiomyomatosis (LAM) is a rare, progressive, and poor-prognosis systemic disorder that primarily affects women of reproductive age, with a higher prevalence among individuals of Caucasian origin. However, there are limited reliable data on the prevalence of LAM during pregnancy. The fulminant respiratory clinical presentation that often includes progressive dyspnea on exertion, cough, or hemoptysis, frequently complicated by pneumothorax, and the increased risk of spontaneous abortion due to increased estrogen and progesterone production during gestation, are arguments that most often make the diagnosed woman avoid pregnancy. Elevated levels of vascular endothelial growth factor D (VEGF-D), decline in respiratory function, and radiological findings are sufficient arguments in favor of the diagnosis in the pregnant woman. Sirolimus, an mTOR inhibitor, has demonstrated effectiveness in slowing the decline of lung function. Although sirolimus treatment is often recommended to be discontinued before conception due to the increased risk of fetal growth restriction, maintaining a dose level of <5 pcg/mL, with serum drug levels of 3–5 pcg/L, has been considered safe. Given the potential risks, individualized decisions about pregnancy are advised for patients with LAM. For those who choose to proceed, close monitoring by a multidisciplinary team is essential to manage complications effectively. Ongoing research aims to provide clearer guidance to optimize outcomes for both mother and child.
淋巴管平滑肌瘤病（LAM）是一种罕见、进行性且预后不良的系统性疾病，主要影响育龄期女性，在白种人群中发病率较高。然而，关于妊娠期LAM患病率的可靠数据十分有限。该病常表现为暴发性呼吸系统症状，包括进行性劳力性呼吸困难、咳嗽或咯血，并常并发气胸；同时妊娠期雌激素和孕激素水平升高会增加自然流产风险，这些因素常使确诊女性避免妊娠。血管内皮生长因子D（VEGF-D）水平升高、呼吸功能下降及影像学发现，足以支持妊娠期女性的诊断。mTOR抑制剂西罗莫司已被证实能有效延缓肺功能下降。尽管由于胎儿生长受限风险增加，通常建议受孕前停用西罗莫司，但维持剂量水平<5 pcg/mL（血药浓度3-5 pcg/L）被认为是安全的。鉴于潜在风险，建议LAM患者根据个体情况决定是否妊娠。对于选择继续妊娠者，必须由多学科团队密切监测以有效管理并发症。当前研究旨在为优化母婴结局提供更明确的指导。
肿瘤(癌症)患者之家