Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency is a rare genetic condition in which levels of Alpha-1 Antitrypsin (AAT), a protein produced in the liver and crucial to healthy lungs, are insufficient to perform their normal function. This protein's role is to neutralize/shut down defensive enzymes in the lungs as needed during routine maintenance or as defensive "battles" in the lungs progress. Deficient in this critical protein, the enzymes remain unchecked and, even when the threatening "event" is over, continue attacking the only target left: healthy lung tissue, resulting in "genetic" emphysema.

"It is now known that the low circulating levels of AAT in Alpha-1 are due to abnormal folding of the defective AAT in the endoplasmic reticulum of the liver leading to polymerization and accumulation of AAT in hepatocytes. Since the liver is the primary source of circulating AAT, this accounts for the decreased circulating levels of this important protein. The accumulation of polymerized abnormal protein in the hepatocytes appears to be the cause of the increased risk of cirrhosis and liver failure in individuals with Alpha-1."

Alpha-1 Antitrypsin Deficiency was discovered in 1963 by Carl-Bertil Laurel at the University of Lund in Sweden, along with a medical resident, Sten Eriksson. A link with liver disease was established in 1969. A1AD is most common among people of Northern Europe descent. There is some belief that "A1AD originated in Scandinavia and during the Viking exploration was spread throughout northern and eastern Europe".

There is only one known therapy, an infusion done on a weekly, bi-weekly, or monthly basis, that can temporarily slow the progression of the disease. Organ transplants are the last resort.

Links:
Alpha-1 Association

Alpha-1 Foundation

Medline Plus: Alpha-1 Antitrypsin Deficiency

Genetics Home Reference: Alpha-1 Antitrypsin Deficiency

National Human Genome Research Institute

Alpha-1 Antitrypsin Deficiency Research Database