What is Alpha-1?
Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic (inherited) condition – it is passed from parents to their children through their genes. Alpha-1 may result in serious lung disease in adults and/or liver disease at any age.
For each trait a person inherits, there are usually two genes; one gene comes from each parent. People with Alpha-1 have received two abnormal alpha-1 antitrypsin genes. One of these abnormal genes came from their mother and one from their father.
Alpha-1 cannot be diagnosed by symptoms or by a medical examination alone; you need to get a simple, reliable blood test to know for sure.
- Alpha-1 is the most common known genetic risk factor for emphysema.
- Up to 3% of all people diagnosed with COPD may have undetected Alpha-1.
- Alpha-1 can also lead to liver disease. The most serious liver diseases are cirrhosis and liver cancer.
- The World Health Organization (WHO), American Thoracic Society (ATS), and the European Respiratory Society (ERS) recommend that everyone with COPD be tested for Alpha-1.
- 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).
The most common signs and symptoms of disease caused by Alpha-1
- Shortness of breath
- Chronic bronchitis, which is cough and sputum (phlegm) production that lasts for a long time
- Recurring chest colds
- Less exercise tolerance
- Asthma that can’t be completely reversed with aggressive medical treatment
- Year-round allergies
Symptoms related to the liver:
- Unexplained liver disease or elevated liver enzymes
- Eyes and skin turning yellow (jaundice)
- Swelling of the abdomen (ascites) or legs
- Vomiting blood (from enlarged veins in the esophagus or stomach)
Who gets Alpha-1 lung or liver disease?
- Alpha-1 has been identified in nearly all populations and ethnic groups. It is estimated that about 1 in every 2,500 Americans have Alpha-1. It is also estimated that Alpha-1 affects approximately 6,000 Canadians, most of whom remain undiagnosed despite available testing across the country.
- People with Alpha-1 may remain healthy throughout their lives. Early diagnosis and avoiding risk factors, such as cigarette smoking, can help prevent Alpha-1 from causing disease.
- An estimated 19 million people in the United States have one normal and one defective alpha-1 gene. People with one normal gene and one defective gene (for example MZ) are called “carriers”. Carriers may pass the defective gene on to their children.
- Alpha-1 can lead to lung destruction and is often first diagnosed as asthma or smoking-related Chronic Obstructive Pulmonary Disease (COPD).
- Canadian Respiratory Guidelines
- Alpha 1 Canada: Diagnosis And Testing
- Canadian Medical Association Journal (CMAJ)
- Canadian Thoracic Society clinical practice guideline
- Alpha 1 Canada Registry
- Prevention of Acute Exacerbations of COPD:American College of Chest Physicians and Canadian Thoracic Society Guideline
- American Thoracic Society/European Respiratory Society Statement: Standards for the Diagnosis and Management of Individuals with Alpha-1 Antitrypsin Deficiency
- US National Library of Medicine National Institutes of Health
- Medical University of South Carolina
- (ATS Journals) Alpha 1 study results
- European Respiratory Review – Diagnosing A-1-antitrypsin deficiency: how to improve the current algorithm
- Augmentation Therapy for A-1 Antitrypsin Deficiency: A Meta-Analysis: Kenneth R. Chapman, MD et al. 2009