Symptoms And Treatment For Alpha 1 Antitrypsin Deficiency

8 June, 2009 No Comment

Alpha 1 antitrypsin deficiency is a disease that is caused due to the shortage of an Alpha 1 antitrypsin protein and is genetic. This Alpha 1 antitrypsin helps to protect the lungs and liver and a deficiency of the same leads to damage of the liver, lungs, or both and in some cases could also affect the skin. This deficiency is slowly increasing and is turning out to be much more common. It is essential that a person with Alpha 1 antitrypsin deficiency does not smoke as it worsens the disease and increases the risk.

Liver Disease: Any irregularity in the functioning of the liver can be termed as a liver disease. In this case it mainly leads to Cirrhosis which is a liver disease that increases the chances of the occurrence of liver cancer.

Emphysema: Is a lung disease where oxygen supply is affected as the air sacs are unable to fill up with fresh air.

Symptoms
The most prominent symptoms are difficulty in breathing either while exerting or otherwise, wheezing and losing weight without any reason. Additional symptoms may be exhaustion, abnormal bowel movements, irregularity in breathing, swelling of the leg, poor concentration and memory, dryness of the mouth, anxiety, feeling tired despite good sleep, impotence, mood fluctuations, vomiting, increase in heart rate, skin diseases like itch, rashes, redness etc. The symptoms may resemble those of respiratory infections or asthma.

Treatment
The treatment for this deficiency varies from person to person. Some people may develop lung or liver disease while others may not and hence the treatment varies accordingly. The main treatment would be to replace the missing protein Alpha 1 antitrypsin through infusion which is taken from the human plasma.

This is known as the replacement or augmentation therapy. It is said to control the disease and prevent any further damage to the lung. Bronchodilators and antibiotics are some of the additional treatments that are available. For individuals with lung disease a transplant may be done. The most important treatment is to stop smoking.