Lymphangioleiomyomatosis
Journal Title: Postępy Nauk Medycznych - Year 2011, Vol 24, Issue 4
Abstract
Lympangioleiomyomatosis (LAM) is a rare lung disease that affects almost exclusively women, primarily in their reproductive years. It is characterized by proliferation of abnormal smooth muscle-like cells (LAM cells), which leads to the formation of lung cysts, fluid-filled cystic structures in the axial lymphatics (lymphangioleiomyoma), and abdominal tumors (angiomyolipoma). LAM can arise sporadically or in association with tuberous sclerosis complex (TSC). TSC and LAM are linked to mutations in the tumor suppressor genes tuberous sclerosis complex 1 (TSC1) or TSC2, encoding hamartin and tuberin, respectively. These mutations leads to disruption of the tuberin-hamartin complex and disregulation of the mTOR/S6K1 signaling pathway, leading to aberrant cell proliferation seen in LAM.LAM commonly presents with progressive breathlessness or with recurrent pneumothorax, chylothorax, or sudden abdominal hemorrhage. Computed tomography scans show numerous thin-walled cysts throughout the lungs, abdominal angiomyolipomas, and lymphangioleiomyomas. No effective treatment currently exists for this progressive disorder. Hopes are high for mTOR inhibitors (sirolimus and everolimus) and treatment trials are currently underway. Lung transplantation must be considered when chronic respiratory failure occurs in patients with LAM.
Authors and Affiliations
Małgorzata Sobiecka
Keywords
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