What are the first steps after an initial diagnosis of alpha-1 antitrypsin deficiency?
After a diagnosis of alpha-1 antitrypsin deficiency (AATD) is made, the following are recommended:
- Pulmonary function tests to check for signs of lung disease
- Chest CT to check for signs of lung disease, like emphysema
- Liver biopsy to look for signs of liver disease, when it is suspected
- Careful examination of the skin
Guidelines written for healthcare providers about diagnosis and management of alpha-1 antitrypsin deficiency can be found at: http://journal.copdfoundation.org/jcopdf/id/1115/The-Diagnosis-and-Management-of-Alpha-1-Antitrypsin-Deficiency-in-the-Adult
A list of AATD specialists can be found at www.alpha1.org.