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What is the deficiency of alpha-1 antitrypsin?

It is the reduction in the production of the enzyme alpha-1 antitrypsin (alpha-1 AT). Sometimes the production is normal but the enzyme is impaired and not functioning properly. In both situations, the loss of function of this enzyme may cause diseases arising from excessive poteasas activity.

Under normal conditions, blood and body tissues is a potent enzymes known as proteases (facilitate rupture of proteins) that play important roles in the defense against infections and inflammatory processes. These proteases must be carefully regulated because too much activity can cause the destruction of self proteins, causing damage to various organs. To control, blood and other tissues have enzymes with protease inhibitory activity, which prevent excessive action of themselves and their potentially harmful effects. The main protease inhibitor in the blood is alpha-1 antitrypsin and its main function is to protect tissues from excessive activity of proteases.

Alpha-1 AT is a family group of serum protease inhibitors. These enzymes have important roles in controlling inflammation, blood clotting and the body’s repair mechanisms. Most of the alpha-1 AT is produced in the liver. The lungs and liver are the main organs that are damaged when there is deficiency of alpha-1 AT.

What people are at risk of developing the disease?

The deficiency of alpha-1 AT is a genetic disease that affects both sexes. Deficit is one of the most common in whites. The disease is widespread throughout Europe, although it varies from one region to another. Severe forms of the disease are more common in coastal areas of Northwest Europe, including the British Isles. In Spain it is rare. The maximum frequency is in the Scandinavian peninsula (1 case per 6,000 inhabitants).

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