title: Pulmonary lymphangioleiomyomatosis: literature update.
abstract: 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.
authors.affiliation: Pulmonary Medicine San Juan City Hospital, San Juan Puerto Rico. samuelvalentinmd@yahoo.com
authors.forename: Samuel
authors.initials: S
authors.lastname: Valentín-Mendoza
authors.forename: José
authors.initials: J
authors.lastname: Nieves-Nieves
authors.forename: Rosángela
authors.initials: R
authors.lastname: Fernández-Medero
authors.forename: Ricardo
authors.initials: R
authors.lastname: Fernández-Gonzales
authors.forename: José
authors.initials: J
authors.lastname: Adorno-Fontánez
authors.forename: Edgardo
authors.initials: E
authors.lastname: Adorno-Fontánez
mesh_terms: D003952:Diagnostic Imaging / Q000379:methods; D004417:Dyspnea / Q000209:etiology; D004967:Estrogens / Q000502:physiology; D005260:Female; D006801:Humans; D008175:Lung Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000473:pathology / Q000628:therapy; D016040:Lung Transplantation; D018192:Lymphangioleiomyomatosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000473:pathology / Q000628:therapy; D008297:Male; D045726:Metalloproteases / Q000502:physiology; D009363:Neoplasm Proteins / Q000502:physiology; D009376:Neoplasms, Hormone-Dependent / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000473:pathology / Q000628:therapy; D011030:Pneumothorax / Q000209:etiology / Q000601:surgery; D017678:Sex Distribution; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology
chemical_list: D004967:Estrogens; D009363:Neoplasm Proteins; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D045726:Metalloproteases