Alphas & Caregivers

What is Alpha-1 Antitrypsin Deficiency?

Alpha-1 Antitrypsin Deficiency (Alpha-1) was discovered in 1963 by the Swedish physician/chemist C.B. Laurell, who noticed a link between people with low levels of the protein Alpha-1 Antitrypsin (AAT) and chronic lung disease. This was followed further clinically with S. Eriksson.

In the late 1960s and early 1970s many different alleles (variants) of AAT were identified on the basis of their electrical charge. It then became possible to identify genetic types of AAT by how rapidly or slowly the protein molecules moved in a gel (PI typing), developed by M. K. Fagerhol in Norway.

In 1969, Alpha-1 was identified by H. Sharp as a cause of liver failure in newborn infants and, in 1982; the Alpha-1 gene was located on chromosome 14. Two years later, the human AAT gene was cloned and the genetic basis of AAT defined. In 1987, augmentation therapy, through the intravenous injection of purified human AAT, began to be used in patients with Alpha-1 lung disease to raise AAT levels and hopefully protect the lungs against neutrophil elastase.

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 disease 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 liverlung and skin manifestations of Alpha-1, as well as the treatments for each (liver, lung and skin).

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.
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