Comprehensive care in lymphangioleiomyomatosis (LAM): From diagnosis to treatment

Song Jin Woo
Asan Medical Centre, Seoul, Korea

Lymphangioleiomyomatosis (LAM) is a rare, progressive, cystic lung disease that primarily affects women of reproductive age. It is characterized by the abnormal proliferation of LAM cells, which are smooth muscle-like cells. This results in diffuse cystic lung destruction, airflow obstruction, and extrapulmonary manifestations, such as renal angiomyolipomas and lymphatic abnormalities. An early and accurate diagnosis is essential, yet it is often difficult due to non-specific symptoms and the rarity of the disease. High-resolution computed tomography (HRCT) remains the primary diagnostic tool for LAM, revealing the characteristic diffuse thin-walled cysts associated with the disease. Serum vascular endothelial growth factor-D (VEGF-D) levels and lung biopsies can help confirm the diagnosis when necessary.

LAM management involves a multidisciplinary strategy focused on symptom control, complication prevention, and disease modification. Treatment with mTOR inhibitors, such as sirolimus, has been shown to stabilize lung function, reduce chylous effusions, and decrease angiomyolipoma size. Supportive therapies, including bronchodilators, supplemental oxygen, and pulmonary rehabilitation, improve quality of life. Vigilant monitoring for complications such as pneumothorax and pulmonary hypertension is critical. For patients with advanced disease and respiratory failure, lung transplantation remains the definitive treatment option.

This lecture provides an overview of LAM's pathophysiology, diagnostic approaches, and current treatment strategies. Integrating pharmacologic and supportive interventions into comprehensive care is vital to optimizing patient outcomes and managing this complex disease.