Pulmonary lymphangioleiomyomatosis: literature update.

[lymphangioleiomyomatosis]

Pulmonary lymphangioleiomyomatosis is an uncommon disease of unknown etiology characterized by the proliferation of abnormal smooth muscle cells in the lungs , leading to parenchymal destruction and progressive respiratory failure . The natural history of this disease remains poorly understood , primarily seen in women of childbearing age . The diagnosis can be difficult because symptoms are nonspecific and very similar to other respiratory diseases like asthma , emphysema and bronchitis . Lymphangioleiomyomatosis may not be diagnosed until a pneumothorax , chylothorax , interstitial lung disease or angiomyolipomas are discovered . The recent advances in genetic and molecular research provide new hope to discover the intricate mechanism of disease and evaluate new therapies . Internists , primary care physicians and pulmonologists should be aware of this condition in order to avoid delay in the diagnosis and institute appropriate therapy . The clinical features , pathophysiology , molecular genetics and medical treatment will be reviewed .