Alpha 1 Antitrypsin Deficiency
Alpha 1 Antitrypsin deficiency is a genetic disorder which is characterized by defects in the production of Alpha 1 antityrpsin which results in reduction of the levels of antitrypsin in the blood and the lungs. There are different forms and degrees of severity of this deficiency disorder and depend upon the gene.
Alpha 1 Antitrypsin Deficiency Treatment
The treatment for antitrypsin deficiency depends upon which organs are involved and affected. In case of patients suffering from lung disorders, augmentation therapy is recommended. In augmentation therapy the patients receive intravenous infusion of alpha 1 antitrypsin which is derived from donated human plasma. This therapy however is not effective in patients with liver disorders. Liver transplant is the only choice of treatment in patients with liver damage
Alpha 1 Antitrypsin Deficiency Diagnosis
Unfortunately Alpha 1 antitrypsin deficiency remains undiagnosed in a large section of the community.
Isoelectric focusing is a blood test which is performed in order to evaluate the presence of the deficiency disorder. All other tests including electrophoresis is found to be imprecise
Alpha 1 Antitrypsin Deficiency Symptoms
The symptoms associated with alpha 1 antitrypsin deficiency are,
- Shortness of breath and wheezing
- Repeated respiratory tract infection
- Asthma attacks that are non responsive to treatment
- Emphysema without the history of smoking
- In about 15% of the patients the condition may present in the form of liver cirrhosis or liver failure without any apparent cause.
Also see What is Deficiency of OTC