Lymphangioleiomyomatosis: A Clinical and Pathophysiologic Review
DOI:
https://doi.org/10.58445/rars.2208Abstract
Lymphangioleiomyomatosis (LAM) is a systemic, progressive, and rare disease that predominantly affects women during their reproductive years. This disease is characterized by the abnormal proliferation of smooth muscle-like cells, referred to as LAM cells. This leads to cystic destruction of the lung, abnormalities in the lymphatic system, and the emergence of renal tumors. This review aims to elucidate the pathophysiological mechanisms underlying LAM, drawing on current research to highlight the cellular and molecular pathways involved. Approximately 30% of women diagnosed with a genetic disorder known as tuberous sclerosis complex (TSC) also exhibit LAM. TSC is commonly characterized by cardiac rhabdomyomas, facial angiofibromas, and various forms of brain tumors. The clinical manifestations of LAM are diverse, with dyspnea being a common symptom, which is observed in approximately 66% of all cases. This is largely attributed to the obstruction of airflow and the replacement of healthy lung tissue with cysts. Pneumothorax is another common symptom, occurring in approximately 70% of all cases. In such instances, pleurodesis is often recommended to prevent recurrence. Despite extensive research, no single clinical or serological factor or test has been identified that can reliably predict the prognosis of LAM patients. As such, the disease continues to pose significant challenges in terms of diagnosis and management. Although tests such as a VEGF-D serum level test, high-resolution contrast tomography, and lung cell biopsy have improved specificity in diagnosis, the advent of newer technologies promises to further enhance diagnostic accuracy. Further research is imperative to better understand the pathophysiology of LAM and to develop more effective therapeutic strategies.
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