Characterization of Familial Idiopathic Pulmonary Fibrosis
This proposal seeks to characterize affected and at-risk family members by clinical methods. Approximately one hundred individuals will be invited to participate for a one time visit, that will last 3 days. Each subject will complete a medical questionnaire, undergo a physical exam, and submit blood for routine lab tests. Blood will be collected for isolation of DNA which will be stored indefinitely. Each subject will be invited to participate in a number of clinical tests. Each subject may choose to participate in one or more of these tests which will include: pulmonary function testing including spirometry, body plethysmography, measurement of diffusion capacity at rest and with exercise, high-resolution computed tomography (HRCT) scans of the chest, bronchoscopy with bronchoalveolar (BAL) lavage, DEXA scan, TLS spine films for evaluation of bone mineral density, ECHO and cardiac MRI. A repository of DNA, serum, BAL fluid and cells will be collected and stored for future research tests, which will include analyses of genetic, protein and cellular markers of pulmonary fibrosis.
1. Individuals from families with two or more individuals affected with IPF, as defined by an international consensus statement.
2. Any race, gender, or ethnicity.
3. Ability to give informed consent.
4. Individuals 21 years and older.