Is Their Asthma
or COPD Hereditary?

Is Their Asthma
or COPD Hereditary?

Your patients 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 they 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 patients 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
could include:

  • 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.

Their 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 your patient may already be experiencing. By providing proper care your patient can have significant positive effects for the rest of their life.

Not everyone with A1AD develops symptoms and even if they have developed symptoms, proper treatment and lifestyle changes can significantly increase the quality and quantity of their life. If your patient is symptom free, they have a good chance of remaining so by making small but important changes in the way they live. Similarly, even if they have developed symptoms, appropriate medication, treatments, exercise and lifestyle changes can go a long way toward ensuring they 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.

Be involved in their healthcare

  • The greatest risk factor for developing life-threatening symptoms is cigarette smoke. If your patient smokes, ask them to quit and avoid second hand smoke as well.
  • Advise them to avoid other lung irritants, especially environmental pollutants used in agriculture, mineral dust, gas, and fumes.
  • Even if their symptoms are limited to respiratory problems, they also need to take care of their liver in order to minimize the possibility of liver disease. They should 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 their liver with the antioxidants that it needs to protect against inflammation.

DISCLAIMER: This website is designed to support, not replace, the relationship that exists between you and your physician. It is not the intention of this website to provide specific medical advice but rather to provide the Canadian Alpha-1 Community with information to better understand their health and their diagnosed disorder. Specific medical advice will not be provided and Alpha-1 Canada urges you to consult with a qualified physician for diagnosis and for answers to your personal questions.