Alpha 1 anti-trypsin deficiency is a inherited disorder that causes lung diseases in adults and liver diseases in both adults and in children. The symptoms associated with alpha 1 anti-trypsin deficiency usually manifest during the young adult years although it can be delayed until the late middle ages as well. As expected, the main symptoms associated with this disorder will relate to the lungs and among them, shortness of breath after mild exertion, inability to undertake exercises and wheezing are the commonest.
Pathophysiology of alpha-1 anti-trypsin deficiency
The main problem associated with this inherited disorder is the absence or the deficiency in the glycoprotein alpha-1 antitrypsin (AIAT) which is produced mainly in the liver. It regulates the action of certain enzymes produced by the nutrophils within the lungs especially in instances of infections, inflammation and in smoking.
When the AIAT is absent, the enzymatic activity within the lungs would go unchecked and therefore will harm the integrity of the alveolar wall. Such damage will prevent the alveoli from expanding during breathing and therefore will prevent oxygen diffusion in to the blood stream as well. Thus, such patients will be in an oxygen deprived state and as the condition cannot be reversed, it is likely that these patients will succumb to the alveolar damage with time. In general, these patients would end up with emphysema, cirrhosis of the liver and liver cell carcinoma.
Prognosis of patients with A1AT deficiency
When it comes to prognosis, it is the Forced Expiration Volume at 1 minute (FEV1) that is taken as the base line measure to determine the prognosis. Thus, scientists have uncovered that those who are having a FEV1 of greater than 50% will have a five-year mortality rate of 4% while those who are with a FEV1 of less than 35% will have a five-year mortality rate of almost 50%. Those who are in between (FEV1 35-49%) will have a five-year mortality rate of around 12%. However, patients who are having a significant bronchodilator response equaling to more than 12% and more than 200 mL will also have a worse prognosis. In addition, people who smoke will obviously have a very high chance of dying from the disease within a short period of time due to the continuous self imposed damage to the lung tissues.
In general, scientists believe that people who have been screened and are diagnosed as having A1AT deficiency before the manifestation of its symptoms will have a better prognosis than the ones who are detected at a later stage. At the same time, researchers have uncovered that among those with A1AT deficiency associated chronic liver disease, it is the co-infections that would increase the patients mortality risk than the inherited inborn error itself. Thus, if such patients can be diagnosed as early as possible and followed up with due caution, it is possible to improve their prognosis considerably than when such diagnosis are made at a later stage.