[Lymphangioleiomyomatosis].
Lymphangioleiomyomatosis is a rare pulmonary disease encountered almost exclusively in women of reproductive age. Pulmonary involvement is characterized by multiple thin-walled cysts in the lungs, recurrent pneumothorax, obstructive lung disorders, and progression to chronic respiratory failure over a mean period of 10 years. Certainty of diagnosis requires a lung biopsy, but international criteria have been proposed for a diagnosis without such a biopsy. International recommendations were recently issued for the diagnosis and treatment of lymphangioleiomyomatosis. Treatment is principally symptomatic and relies on the management of bronchial obstruction by bronchodilators; of hypoxemia by oxygen therapy; of pleural complications by pleurodesis, most often surgical; and of renal angiomyolipomas by percutaneous embolization in cases of hemorrhagic risk. Hormone treatment is not recommended. 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 younger than 60 years.
Cottin
Vincent
V
Hospices civils de Lyon, Hôpital Louis Pradel, Service de pneumologie et centre de référence des maladies pulmonaires rares ; F-69677 Lyon Cedex, France. vincent.cottin@chu-lyon.fr
Archer
Fabienne
F
Khouatra
Chahéra
C
Lazor
Romain
R
Cordier
Jean-François
JF
D018206:Angiolipoma / Q000628:therapy; D002916:Chylothorax / Q000209:etiology / Q000628:therapy; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D007680:Kidney Neoplasms / Q000628:therapy; D008175:Lung Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D018192:Lymphangioleiomyomatosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D011030:Pneumothorax / Q000209:etiology / Q000628:therapy; D011379:Prognosis; D014402:Tuberous Sclerosis / Q000175:diagnosis; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics
D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins