What's the treatment for alpha-1 antitrypsin deficiency?
Standard therapy for alpha-1 antitrypsin deficiency should be directed at the lung disease: education not to smoke, relief of any reversible component of airway obstruction, elimination and prevention of bronchopulmonary infection, and general health measures. Treatment of alpha-1 antitrypsin deficiency is designed to maintain normal nutrition, to provide the liver and the body with essential nutrients, and to identify complications early in order to treat them better. Multiple vitamins and vitamins E, D and K are often given. When jaundice is severe or itching appears, phenobarbital or cholestyramine may be used. If the disease progresses, excess body fluid may occur and can be treated with diuretics.
Replacement (augmentation) therapy with the missing AAT protein is available. However, it is not known how effective this is once disease has developed or which people would benefit most. Certainly, quitting smoking is crucial. There has been great success in using weekly injections of a drug called Prolastin to restore alpha-1-antitrypsin levels to normal in patients with the PI ZZ genotype. This drug can delay or prevent onset of symptoms. However, it is generally given to patients at the first onset of symptoms, such as mild emphysema, because many people do not know they have alpha-1-antitrypsin deficiency until symptoms appear. The safety and effectiveness of this treatment for children has not yet been determined. |
