O'Mahony Anne M, Lynn Evelyn, Murphy David J, Fabre Aurelie, McCarthy Cormac
Dept of Respiratory Medicine, St Vincent's University Hospital, Dublin, Ireland.
These authors contributed equally.
Breathe (Sheff). 2020 Jun;16(2):200007. doi: 10.1183/20734735.0007-2020.
Lymphangioleiomyomatosis (LAM) is a diffuse cystic lung disease. There are two main types of LAM: sporadic, and LAM associated with the tuberous sclerosis complex (TSC), which is caused by mutations in the and genes. LAM is characterised by cystic lung disease resulting in progressive dyspnoea, renal angiomyolipomas and lymphatic complications. Pneumothorax occurs frequently (70%) and definitive management with pleurodesis is recommended as the risk of recurrence is high. Characteristic thin-walled cysts are seen on computed tomography and the presence of elevated serum levels of a vascular endothelial growth factor-D has good diagnostic specificity. Currently, no single clinical or serological factor has been shown to predict prognosis. However, over the past decade, significant advances in our understanding of the pathophysiology of LAM has led to improved recognition of this rare disease and identification of treatment options. Mechanistic target of rapamycin inhibitors slow the rate of lung function decline and can resolve chylous effusion and regress angiomyolipomas. Life expectancy in patients with LAM is favourable, with a mean transplant-free survival >20 years from the time of diagnosis. Continued advances in understanding the molecular basis of LAM will lead to improved therapeutic targets and the development of more robust prognostic indicators.
To illustrate the clinical features, common presentations and radiological features of LAMTo outline the diagnostic approach to LAM, including the role of VEGF-DTo review the current prognostic indicators in LAM, and outline the impact of lung function, hormonal status, VEGF-D and clinical presentation on outcomeTo inform clinicians on the management options for LAM both pharmacological and nonpharmacological.
淋巴管平滑肌瘤病（LAM）是一种弥漫性囊性肺病。LAM主要有两种类型：散发性LAM，以及与结节性硬化症（TSC）相关的LAM，后者由TSC1和TSC2基因的突变引起。LAM的特征是囊性肺病，可导致进行性呼吸困难、肾血管平滑肌脂肪瘤和淋巴系统并发症。气胸频繁发生（70%），由于复发风险高，建议采用胸膜固定术进行确定性治疗。计算机断层扫描可见特征性薄壁囊肿，血清血管内皮生长因子-D水平升高具有良好的诊断特异性。目前，尚未发现单一的临床或血清学因素可预测预后。然而，在过去十年中，我们对LAM病理生理学的理解取得了重大进展，这使得对这种罕见疾病的认识得到提高，并确定了治疗方案。雷帕霉素机制性靶标抑制剂可减缓肺功能下降速度，并可解决乳糜胸和使血管平滑肌脂肪瘤消退。LAM患者的预期寿命良好，从诊断时起平均无移植生存期>20年。对LAM分子基础的持续深入理解将带来更好的治疗靶点，并开发出更可靠的预后指标。
阐述LAM的临床特征、常见表现和影像学特征；概述LAM的诊断方法，包括VEGF-D的作用；回顾LAM目前的预后指标，概述肺功能、激素状态、VEGF-D和临床表现对预后的影响；告知临床医生LAM的药物和非药物管理选择。
