Lymphangioléiomyomatose pulmonaire avec ou sans sclérose tubéreuse de Bourneville

Abstract

Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease affecting young women and presenting with recurrent pneumothorax. Other lesions such as chylothorax or renal angiomyolipoma may suggest the diagnosis. The condition is related to a proliferation of abnormal smooth muscle cells staining for the monoclonal antibody HMB45. LAM can appear sporadically or be associated with tuberous sclerosis with abnormalities of the TSC2 suppressor gene. High resolution thoracic CT scanning shows bilateral, thin walled pulmonary cysts. Pulmonary function tests reveal bronchial obstruction and over-inflation with a reduced DLCO being the earliest abnormality. Although there are non-progressive forms, LAM usually leads to chronic respiratory insufficiency within a few, or ten or so years. In the absence of a controlled clinical trial hormone therapy has not been shown to be effective. Lung transplantation is the last therapeutic resort; recurrences in the transplanted lung have been occasionally reported. Analysis of the molecular mechanisms induced by mutations of the TSC2 suppressor gene and the demonstration of the migratory properties of smooth muscle cells, whose origin may be extra-thoracic, reveal new specific antiproliferative therapeutic options.