Who Should Get Tested?
The Alpha-1 Foundation encourages testing for Alpha-1 among those at high risk for this genetic disorder. Early diagnosis can help an Alpha consider different lifestyles, professions or other personal decisions that could maintain or improve their health.
The World Health Organization (WHO), the American Thoracic Society (ATS), the European Respiratory Society (ERS), and the Alpha-1 Foundation’s Medical and Scientific Advisory Committee (MASAC) recommend that anyone diagnosed with the following diseases should be tested for Alpha-1:
- Chronic Obstructive Pulmonary Disease (COPD)
- Chronic bronchitis
- Asthma that is incompletely reversible after aggressive treatment
- Chronic liver disease
- Unexplained liver disease in infants and children
- The skin disease panniculitis
Specifically, the Canadian Thoracic Society (CTS) recommends testing for Alpha-1 Antitrypsin Deficiency should be considered in:
- Patients diagnosed with COPD before age 65 or with a smoking history of less than 20 pack years.
- Individuals with a family history of Alpha-1 along with genetic counselling.
- Adult asthma patients with diagnostic uncertainty (ie. persistent obstruction on lung function testing).
How to get tested for Alpha-1 in Canada
Testing for alpha-1 antitrypsin deficiency: Measurement of AAT protein levels in your blood is the first step.
Then the AAT protein in the blood is evaluated for its chemical characteristics since having a deficient AAT protein is different than normal. This is called Pi-typing or phenotyping. The last step is looking at the AAT genes then testing them for common abnormalities. This is called genotyping.
Individuals who have any of the diagnoses discussed in the prior section should discuss testing with their physician.