Study of the Disease Process of Lymphangioleiomyomatosis

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.

- 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.

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.