Alpha-1 Antitrypsin Deficiency (sometimes shortened to Alpha-1) is a hereditary condition that can cause liver disease in infants, children, and adults and can also lead to lung disease in adults.
National Jewish Health is one of the best places in the world to be treated for the adult lung and liver disease caused by Alpha-1. Our doctors have every necessary tool at their fingertips to diagnose and treat this condition. While we do not treat infants or children with Alpha-1 liver disease, we have a close working relationship with The Children's Hospital in Denver and will make a referral to the appropriate pediatric liver specialist.
Alpha-1 is one of the most common inherited disorders and accounts for about 1 percent of all COPD (chronic obstructive lung disease) in the United States. Research is constantly being done to develop new therapies. Doctors at National Jewish Health have been involved in virtually every new drug evaluated for Alpha-1. Currently trials are underway or planned to evaluate inhaled therapies and gene therapy for the condition. Our doctors and researchers are always looking for new ways to manage and treat Alpha-1 and other chronic lung diseases.
Doctors at National Jewish Health follow one of the largest groups of Alpha-1 patients in the world. The program here has been devoted to the care of families with Alpha-1 since 1981.
Getting Tested for Alpha-1 Antitrypsin Deficiency
Screening methods for Alpha-1 diagnosis involve genetic testing (testing the Alpha-1 DNA), alpha-1 antitrypsin phenotype testing (testing the structure of the protein made by the Alpha-1 gene), blood level testing, CT scanning or other imaging of the lungs or liver, depending on what indications a patient has.
Who Should Get Tested for Alpha-1 Antitrypsin Deficiency?
Since Alpha-1 is a genetic condition, we invite all immediate family members to participate in the initial visit, if possible. If an immediate family member has been diagnosed with Alpha-1, doctors may recommend that you also get screened for potential Alpha-1.
Clinical Trials