Resources for Patients and Caregivers
Updated: June 14, 2010
What is alpha-1 antitrypsin deficiency?
Alpha-1 antitrypsin (AAT), also known as alpha-1 antiprotease, is a glycoprotein made predominately in the liver and transported by the blood. Its purpose is to protect the lungs and other tissues from an enzyme called neutrophil elastase (NE). Alpha-1 Antitrypsin Deficiency, also known as alpha-1, A1AD and AATD, is an inherited genetic disorder that can affect the liver, lungs and skin.People diagnosed with alpha-1 have low levels of the protective protein alpha-1 antitrypsin. In some rare cases, they have no AAT at all. Individuals with low or no AAT are at risk for developing severe liver, lung or occasionally skin disease.
This section of the web site includes information on the liver, lung and skin manifestations of alpha-1, as well as the treatments for each (liver, lung and skin).
Here you will also find information on the genetics of Alpha-1, testing, the history of the disease and definitions.
There are also ethical issues around testing and discrimination.
We also outline financial assistance that may be available to patients.
There are research registries available for alpha-1. Research registries are lists of patients who have agreed to considered requests to take part in research on Alpha-1. Joining a registry does not mean that you agree to take part in research, only that you agree to receive requests from researchers who are studying Alpha-1.
For those patients who need supplemental oxygen, we have included a section on the issues involved in flying on airplanes with oxygen.
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.