Is Your Asthma
or COPD Hereditary?
Your asthma or COPD could be a serious hereditary disease called Alpha-1 Antitrypsin Deficiency.
Alpha-1 Antitrypsin Deficiency, also called Alpha-1, A1AD or AATD is a common serious hereditary disorder and can result in life-threatening lung, liver or skin disease. Knowing that you have Alpha-1 opens up many lifestyle and treatment decisions as well as the knowledge to avoid risk factors, all of which can improve your quality of life.
Everyone’s liver produces Alpha-1 Antitrypsin (AAT). The job of AAT is to protect the body from inflammation, especially in the lungs. In people with Alpha-1 their AAT is malformed and cannot be released by their liver. Most commonly this leads to lung disease but the build-up of AAT in the liver can also lead to liver disease and rarely a form of panniculitis, a skin disease.
While it is important to know that not everyone who has Alpha-1 will develop symptoms, even people who are ‘only carriers’ can develop symptoms. We do know that early detection, treatment and lifestyle changes can make a dramatic difference in the progress of the disease.
As a result, the sooner a diagnosis is made the more effective lifestyle and treatment options will be.
Common signs and symptoms
- family history lung disease
- rapid deterioration in lung function with or without a background of significant smoking or occupational exposure to lung irritants
- asthma that is not fully responsive to treatment
- shortness of breath or awareness of ones breathing
- decreased exercise tolerance
- recurring respiratory infections
- chronic cough and sputum (phlegm) production
- family history of liver disease
- unexplained liver problems
- elevated liver enzymes
Who should be tested for A1AD?
- The World Health Organization (WHO), the American Thoracic Society, the European Respiratory Society and Alpha-1 Canada recommend that everyone with COPD be tested for Alpha-1 Antitrypsin Deficiency
everyone with emphysema, chronic obstructive pulmonary disease (COPD), chronic bronchitis or asthma that is not fully responsive to treatment
- individuals with bronchiectasis
- newborns, children and adults with unexplained liver disease
- individuals with a family history of liver disease
- blood relatives of persons diagnosed with Alpha-1 Antitrypsin Deficiency
- anyone with panniculitis, a skin disease
Testing for Alpha-1 Antitrypsin Deficiency is simple and quick. It is done through a blood test. People at risk for Alpha-1 Antitrypsin Deficiency should be tested.
For more information about testing contact Alpha-1 Canada at 1-888-669-4583 or reach us on our Contact Us page.
Your future with A1AD
TA positive diagnosis of Alpha-1 Antitrypsin Deficiency represents an opportunity to take concrete steps to avoid risk factors, limit symptoms, or slow the progression of symptoms you may already be experiencing. Proper care by you and your physician can have significant positive effects for the rest of your life.
Not everyone with A1AD develops symptoms and even if you have developed symptoms, proper treatment by your physician and lifestyle changes you can make will significantly increase the quality and quantity of your life. If you are symptom free, you have a good chance of remaining so by making small but important changes in the way you live. Similarly, even if you have developed symptoms, appropriate medication, treatments, exercise and lifestyle changes can go a long way toward ensuring you live a long and happy life.
A treatment called augmentation therapy is an option for many patients. Augmentation therapy increases the amount of Alpha-1 Antitrypsin in a patient’s blood stream thereby providing protection for the lungs. Your physician is the best person to provide information about medications and treatment and to take care of you in medical terms, but there are important actions you can take to help take care of yourself.
Be involved in your healthcare
- The greatest risk factor for developing life-threatening symptoms is cigarette smoke. If you smoke, quit and avoid second hand smoke as well.
- Avoid other lung irritants, especially environmental pollutants used in agriculture, mineral dust, gas, and fumes.
- Even if your symptoms are limited to respiratory problems, you also need to take care of your liver in order to minimize the possibility of liver disease. Avoid things that may cause extra harm to the liver such as alcohol, street drugs, some over the counter drugs and certain prescribed medications.
- There is no specific treatment for Alpha-1 associated liver disease. Eating a well-balanced, healthy diet that contains plenty of fruits and vegetables is essential to provide your liver with the antioxidants that it needs to protect against inflammation.