• It's a disease caused by a genetic abnormality where only low or null levels of the protein alfa-1-antitrypsin are present in the blood
• It can cause lung disease in adults and some children
• It can in fewer cases cause liver disease in children, infants or adults
• It is underdiagnosed in all countries
• Although there is no present cure, it is treatable
• It can be easily identified by a simple blood test

Normally, this protein  passes through the liver cells into the blood, and amongst its many functions, about which there is much more to learn, it serves to protect the lung tissue from inflammation and damage caused by agressive agents called neutrofils, which attack lung tissue or external agents such as tobacco, or other toxic inhaled substances which act as irritants or contaminants.

When there is a deficiency of  AAT (alfa-1-antitrypsin), the liver cells, cannot pass the AAT into the blood and it remains trapped in the liver cells.

This can cause:

• liver damage such as cirrhosis, hepatitis, or neonatal colestasis
• respiratory disease such as emphysema, chronic bronquitis, or non reversable asthma.
• In rare cases: vascultisi typ C -Anca positive or paniculitis a rare skin disease. 

How or why is there a deficiency?

AAT Deficiency can be caused by a genetic condition:

inside the liver cell, the alfa-1-antitrypsin polymerizes (that means that it forms chains which are unable to pass through the liver cell wall)

When this ocurrs, the person diagnosed runs the risk of  suffering from lung or liver disease, as indicated.

How is this genetic condition detected?

First, the AAT levels in the blood are measured and if they are less than 30mM  a second test to see the phenotype is then carried out: this tests to see if the reason for the low level of AAT is for that persons genetic make-up. Each person has a different phenotype related to alfa-1-antitrypsin, and this determines which is their type.