The concerns and problems facing Alpha-1 Antitrypsin Deficiency patients

Alpha-1 Antitrypsin Deficiency (AATD) is probably the most common life threatening inherited disease in Europe. It is estimated that in excess of 100,000 individuals on the Continent suffer from it. It fatally affects the lungs (emphysema) and liver (cirrhosis). As the only therapy for liver AATD is transplantation and as lung disease is far more common, I shall confine my remarks to lung related AATD for which replacement (augmentation) therapy has been developed and is fairly widely used. This is a plasma derived product and is IV delivered. An inhaled product is currently being developed also. However, most patients do not know that they have the condition and most doctors do not know that some of their patients have the condition either. This is true even with symptomatic patients. They are usually diagnosed with Asthma or COPD. This in turn, means that they are being inappropriately treated with therapies that do little for their condition of Alpha-1 Antitrypsin Deficiency. It has been estimated in the USA that it takes an average of five doctors, over a seven year period, to diagnose the condition in a patient. Even after that long delay there is no guarantee that an Alpha-1 patient will be diagnosed. To date, only c. 5% have been diagnosed in the countries that are looking for them. AATD is a deficiency of a vital lung protecting protein. Therefore, it would seem that the obvious therapy is to replace or augment that which is lacking. This therapy has been developed and is now being widely used in the USA and in Europe. In Europe it is licensed and prescribed in the following countries: