Current Perspectives on The Diagnosis and Management of Lymphangioleiomyomatosis

Lymphangioleiomyomatosis (LAM) is a progressive, female predominant, low-grade neoplasm that causes cystic remodeling of the lung. Diagnosing LAM involves a multifaceted approach, utilizing clinical assessments, imaging, and biomarkers. Management typically centers on pharmacologic treatment with the mechanistic target of rapamycin inhibitors, with additional strategies for symptomatic relief. Fueled by close collaboration between patients, scientists, and clinicians, discovery science in LAM has progressed rapidly resulting in the development of a blood-based diagnostic biomarker, Food and Drug Administration-approved therapy, worldwide network of clinics, and the discovery of multiple novel targets that are ripe for translation into new biomarkers and therapies.