study of the disease process of lymphangioleiomyomatosis

Conditions: Lung Disease; Pneumothorax; Tuberous Sclerosis; Lymphangioleiomyomatosis

Summary: pulmonary lymphangioleiomyomatosis (lam) is a destructive lung disease typically affecting women of childbearing age. currently, there is no effective therapy for the disease and the prognosis is poor. this study is designed to determine the disease processes involved at the level of cells and molecules, in order to develop more effective therapy. researchers intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals. ...

individuals with pulmonary lymphangioleiomyomatosis develop severe destructive lung disease. most of them are females of childbearing age. currently, there is no proven effective therapy and the prognosis is variable. this study is designed to (a) define the clinical course of the disease and (b) elucidate the pathogenesis of the disease at the cellular and molecular levels, in order to develop more effective therapy. to accomplish this, we intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals.

Eligibility criteria:
* inclusion criteria: general admission criteria for patients include one or both of the following: findings on lung biopsy diagnostic of lam; findings on chest x-ray and/or chest computed axial tomography consistent with lam. patients with tsc and pulmonary lam will be included in the study. normal non-smokers in the control group are defined as individuals who have not smoked for greater than or equal to 1 year and have no systemic or pulmonary disease. normal smokers defined as individuals with no systemic or pulmonary disease, who have smoked for greater than or equal to 1 year and have normal chest x-ray and normal pulmonary function tests may be included if needed as controls for a similar population of patients with lam. pregnant and or nursing women can be included in accordance with federal regulations at subpart b of 45 cfr 46 subjects who are pregnant and or nursing will be excluded from procedures during their pregnancy that are greater than minimal risk, until they are no longer pregnant and/or nursing. procedures that will not be completed while the subject is pregnant and/or nursing including: pfts, six minute walk test, thoracentesis, bronchoscopy, and measurements with imaging modalities requiring contrast or with radiation exposure such as chest x-ray, ct scan, mri, bone densitometry (dexa). allowing subjects to be included in the study may glean important information about individuals with uncommon pulmonary disease during and post pregnancy. exclusion criteria: exclusion criteria for patients include: age less than 16. advanced stage of a pulmonary or a systemic illness in which the risk of the study is judged to be significant even in the absence of a clear contraindication to the procedures. exclusion criteria for patients for the formal exercise study and the stress echocardiogram include patients on continuous oxygen. patients may perform an exercise test that will assess the patient's exercise capacity with activities of daily living.

Keywords: smooth muscle proliferation bronchoscopy female pneumothorax tuberous sclerosis natural history