Abstract
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 TSC1 and TSC2 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.
Educational aims
To illustrate the clinical features, common presentations and radiological features of LAM
To outline the diagnostic approach to LAM, including the role of VEGF-D
To review the current prognostic indicators in LAM, and outline the impact of lung function, hormonal status, VEGF-D and clinical presentation on outcome
To inform clinicians on the management options for LAM both pharmacological and nonpharmacological
Abstract
Lymphangioleiomyomatosis (LAM) is a rare diffuse cystic lung disease with robust diagnostic biomarkers and effective therapy https://bit.ly/3dEbiEe
Footnotes
Conflict of interest: A.M. O'Mahony has nothing to disclose.
Conflict of interest: E. Lynn has nothing to disclose
Conflict of interest: D.J. Murphy has nothing to disclose.
Conflict of interest: A. Fabre has nothing to disclose.
Conflict of interest: C. McCarthy has nothing to disclose.
- Received January 15, 2020.
- Accepted May 7, 2020.
- Copyright ©ERS 2020
Breathe articles are open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.