What's the treatment for Alpha 1-antitrypsin deficiency?
Preventing or slowing the progression of lung disease is the major goal of AAT deficiency management. Facilitate this goal by decreasing any proinflammatory stimuli in the alveolus, including smoking, asthma, or respiratory infection. Alternatively, augmenting or replacing the deficient enzyme, and thereby moderating inflammatory stimuli, is possible. Most patients are
identified only after they develop lung disease, and the goals of treating AAT deficiency emphysema are similar to those for treating all forms of emphysema.
In rare instances where the disease progresses to liver failure, liver transplantation is the only effective treatment at this time. Over many years, injury to the lungs can result in emphysema. In some, smoking, asthma and lung infections further contribute to the development of lung problems. For this reason, it is strongly recommended that individuals with alpha1 antitrypsin deficiency refrain from smoking.
Replacement of the missing enzyme using synthetic alpha1-antitrypsin has shown some promise in the treatment of children, but liver transplantation remains the only fully successful treatment. Liver damage does not usually recur in the transplanted liver, which is able to produce and secrete alpha1-antitrypsin normally.
Treatment in adults is usually directed at the lung disease. Measures include preventing lung infection and getting a person who smokes to stop smoking. Liver transplantation is also successful in adults.
Transplantation is the second surgical option for patients with severe AAT emphysema. If patients are at substantial risk of early mortality and are otherwise healthy, they may be candidates for lung transplantation. ontact a local transplant center before patients become too ill (cachexia, inactivity, frequent infections). Unfortunately, the average waiting time for a transplant in the United States is 18-24 months, and the uncertainties of emphysema exacerbations and complications that might prevent transplantation make it imperative that patients be referred well in advance of need. Offer patients with an FEV1 less than 35% of predicted value (5-y mortality rate of 50%), especially men or individuals with substantial broncho-reactivity, the opportunity to discuss the option with a transplant physician. |
