Alpha-1 Antitrypsin Deficiency: Symptoms, Causes and Treatment
Alpha-1 antitrypsin deficiency is an inherited disorder that causes lung disease and liver disease. The condition occurs as the result of a mutation in the genes that control the production of alpha-1 antitrypsin, a protein. The alpha-1 antitrypsin protein is essential for guarding the body from an enzyme, neutrophil elastase.
The Neutrophil elastase protein is a substance our bodies depend on. It is an infection fighting substance released from our white blood cells. However, uncontrolled, neutrophil elastase goes to work on healthy tissue, most commonly the lungs.
Genetic mutations happen when there is damage or some kind of alteration to genetic DNA, causing a change in the genetic message carried by that gene.1 Once a change occurs, the damaged genes may replicate (or reproduce), carrying the altered genetic message on and on, passed on through succeeding generations of humans. The Alpha-1 antitrypsin deficiency genetic condition causes lung and/or kidney damage, depending upon the variant present.
Most people with the genetic mutation develop lung disease symptoms of alpha-1 antitrypsin deficiency sometime between the ages of 20 and 50.
Symptoms of Alpha-1 Antitrypsin Deficiency:
- Shortness of breath following
- Inability to exercise
- Weight loss
- Repeated respiratory infections
- Rapid heartbeat
A blood test that looks for specific Alpha-1 antitrypsin deficiency blood serum levels confirms presence of the disease. Then, several tests help determine the how advancement of the disease2:
- CT of the chest
- Spirometry for assessing lung function
- Liver function tests
- Liver ultrasound
- Liver biopsy
While there is no cure for Alpha-1 antitrypsin deficiency, there are treatments. First and foremost, individuals who smoke must quit. After diagnosis, immediate treatments are similar to those for COPD, including prescribing steroids and bronchodilators. Additionally, many receive supplemental oxygen treatment. Replacing the missing Alpha-1 antitrypsin protein is another option. In extreme cases, lung transplant is the best course of action.
The information on this page is not intended to be a substitute for professional medical advice, diagnosis, or treatment. For more information about Alpha-1, talk to your doctor or primary care provider.
Page last updated: October 14, 2018