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Alpha-1 antitrypsin deficiency (AATD) is considered a rare genetic cause of chronic obstructive pulmonary disease (COPD) and liver disease. Recent data has suggested that AATD is not as rare as originally thought and undetected AATD may account for COPD in some patients. This study was designed to evaluate the frequency of undetected AATD in a population reporting to academic pulmonary function testing facilities who meet criteria for the diagnosis of COPD. All individuals meeting GOLD criteria for COPD will be consented and offered free testing for AATD. The results will help identify the percent of those with COPD who have undetected AATD.
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Inclusion Criteria:
Note: For the inclusion criteria the investigators will use the patient's GOLD status, based on percent predicted (FEV1 < 80% of predicted); however, after sending the absolute value of FEV1 to the Data Coordinating Center (DCC) the DCC will calculate the percent predicted using a standardized formula (NHANES III). For sites that do not use this predicted formula, the results obtained at the DCC may differ from those used for subject enrollment. (For example, a subject found to have an FEV1 of <80% at the study site could have an FEV1 > 80% when the DCC recalculates it). Enrollment will be based on the percent predicted at each study site. If necessary, the data from this small number of outliers will be analyzed separately.
Exclusion Criteria:
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Individuals reporting for pulmonary function testing who meet criteria for the diagnosis of chronic obstructive pulmonary disease
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| Name | Affiliation | Role |
|---|---|---|
| Robert A Sandhaus, M.D., Ph.D. | National Jewish Health | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California Los Angeles | Los Angeles | California | 90095 | United States | ||
| National Jewish Medical and Research Center |
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| Denver |
| Colorado |
| 80206 |
| United States |
| University of Florida (Gainesville) | Gainesville | Florida | 32610 | United States |
| University of Florida (Jacksonville) | Jacksonville | Florida | 32209 | United States |
| University of Miami | Miami | Florida | 33101 | United States |
| Miami VA Medical Center | Miami | Florida | 33125 | United States |
| Cleveland Clinic Florida | Weston | Florida | 33332 | United States |
| Emory Crawford Long Hospital | Atlanta | Georgia | 30308 | United States |
| Emory University | Atlanta | Georgia | 30322 | United States |
| Atlanta VA Medical Center | Decatur | Georgia | 30033 | United States |
| University of Chicago | Chicago | Illinois | 60637 | United States |
| Mayo Clinic Rochester | Rochester | Minnesota | 55905 | United States |
| St. Luke's-Roosevelt Hospital Center | New York | New York | 10025 | United States |
| University of North Carolina at Chapel Hill | Chapel Hill | North Carolina | 27599 | United States |
| The Cleveland Clinic Foundation | Cleveland | Ohio | 44195 | United States |
| Oregon Health & Science University | Portland | Oregon | 97239 | United States |
| Medical University of South Carolina | Charleston | South Carolina | 29425 | United States |
| University of Texas Health Science Center at Tyler | Tyler | Texas | 75708 | United States |
| San Juan City Hospital | Centro Medico Metropolitano | San Juan | 09036 | Puerto Rico |
| ID | Term |
|---|---|
| D019896 | alpha 1-Antitrypsin Deficiency |
| D029424 | Pulmonary Disease, Chronic Obstructive |
| ID | Term |
|---|---|
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D008171 | Lung Diseases |
| D012140 | Respiratory Tract Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D013352 | Subcutaneous Emphysema |
| D004646 | Emphysema |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D008173 | Lung Diseases, Obstructive |
| D002908 | Chronic Disease |
| D020969 | Disease Attributes |
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