Alpha-1 antitrypsin deficiency is an inherited genetic disorder that affects mainly the lungs. It limits even mild activity and can be fatal. Intensive research continues in order to find even better treatments.
Disease: Alpha-1 antitrypsin deficiency
Last update: June 2006
Intro
FAQ
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What is it?
Alpha-1-antitrypsin (AAT) deficiency is one of the most common inherited genetic disorders among Caucasians that may cause lung or liver disease. AAT acts as a protective enzyme in the lungs. If it is lacking, the lungs can be progressively damaged. AAT deficiency can also damage the liver and is the leading cause of liver transplantation in children. -
Who gets it?
The World Health Organisation (WHO) estimates that 100,000 people in Europe are affected, although an estimated 90 per cent of these patients are undiagnosed. -
What can be done about it?
Various medicines have been developed to improve lung function. Oxygen supplementation is also used by increasing exercice capacity, to help patients. Vaccines will prevent infections. Since the late 1980s, a therapy made from human plasma protein concentrate has been used to replace the missing AAT. Transplantation (lung or liver) may be beneficial for patients with very advanced disease. -
What does the future hold?
Researchers are investigating new anti-inflammatory medicines. Research has also discovered that the cause of the disease is due to a faulty enzyme controlled by a single gene on chromosome 14. Gene therapy - to replace the faulty gene - remains the ultimate goal to ameliorate or cure the disease.