Alpha 1 antitrypsin is a type of protein produced in the liver and deficiency of this protein can cause liver problems and lung disease. A1AD is a genetic disorder inherited by birth. Any deficiency of this protein can damage the alveolar walls of the lungs. Normal serum level of A1A is about 20-60 umol/L and it can cause lung damage if the level goes below 15. Children having COPD (Chronic Obstructive Pulmonary Disease) should be checked for A1AT deficiency to prevent liver and lungs damage. A1AT is common disorder in white people and more particular in North western European countries.
A1AT is a under-diagnosed disorder and young children having frequent episodes of congestion may have this deficiency. About 10-15% of adults having A1AT disorder are likely to develop liver problems. There is no cure for A1AT but with early diagnosis symptoms can be managed and possible liver damage can be prevented. A1AT is also known as genetic emphysema, Alpha 1 emphysema and hereditary pulmonary emphysema.
Symptoms :
Initial signs of A1AT can appear even before 20 years. Some of the common symptoms include shortness of breath, wheezing, breathlessness while doing exercise, loss of weight, repeated respiratory infections, rapid heartbeat and extreme tiredness. The symptoms will increase steadily as the person smokes causing more damage to the lungs.
Some people may develop emphysema having symptoms of persistent cough, difficulty in breathing and barrel shaped chest. If the disease has progressed to cause liver damage the person may show symptoms like swollen legs or feet, swollen abdomen and yellow coloration of the skin.