When someone gets an infection, the immune system kicks in and releases white blood cells into the bloodstream, these white cells attack and kill off the infection. As the white cells do their work, they release a potentially damaging enzyme called elastase. AAT prevents the elastase causing lung damage. To a lesser extent, the same thing happens throughout life, because white cells are constantly cleaning up inhaled germs and pollution.

Alphas, whatever their gene combination, have less AAT in their bloodstream than normal. Those with the most serious gene combinations have hardly any. As a result, the elastase is able to cause damage, which it does by digesting healthy tissue. This damage occurs mainly in the lungs.

It is the loss of tissue over many years that results in serious lung disease. It can take 40 years or more for the damage to become noticeable.

Alpha-1 is often first diagnosed as asthma or smoking-related COPD (Chronic Obstructive Pulmonary Disease) which includes emphysema and chronic bronchitis.

Signs & symptoms of A1AD related lung disease

• Family history of lung disease.

• Rapid deterioration of lung function with or without a background of significant smoking, or occupational exposure to lung irritants.

• Asthma that is not fully responsive to treatment.

• Shortness of breath or awareness of ones breathing.

• Decreased exercise tolerance.

• Recurring respiratory infections.

• Chronic cough and sputum (phlegm) production (not always present).