Alpha Antitrypsin Deficiency
Alpha antitrypsin (AAT) deficiency was first detected in early part of 1960s and was the most common inherited disorder among whites. As a result of genetic disorder, the hepatocytes fail to produce and release Alpha antitrypsin into the blood. Alpha antitrypsin protects the alveoli from damage by antiproteases and the lower concentration of alpha antitrypsin in the blood and the lungs result in excessive lung damage.
The most common manifestation of the alpha antitrypsin deficiency is early onset of emphysema, without any apparent cause. Individuals suffering from the deficiency of alpha antitrypsin may present with emphysema in the early thirties or forties. Empirical evidence has suggested that about 3% of the patients may also present with chronic obstructive pulmonary disease (COPD).
On the other hand, failure of hepatic cells to release alpha antitrypsin into the blood may result in destruction of these cells and may present with liver disease and at time liver failure.
The common symptoms include dyspnea or breathlessness without excretion with increased production of sputum, cough and wheezing.
Alpha Antitrypsin Deficiency Treatment
The treatment of alpha antitrypsin involves several modalities. The treatment primarily comprises of cessation of smoking, use of bronchodilators to provide symptomatic relief for dyspnea and physical therapy to enhance the strength on the chest muscles and aid in normal process of breathing. Augmentation therapy is advocated in patients with lung disorder while liver transplant is advocated in patients with liver damage or in young infants detected with the condition.
Also see how to Treat Deficiency of Alpha 1 Antitrypsin