Overview

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.

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Eligibility

• 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.