Alpha 1 Antitrypsin Deficiency: Treat Antitrypsin Deficiency

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.

However, in most cases the abnormal antitrypsin tends to get deposited on the liver cells which in turn can result in liver disorders

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.

As per estimates only about 1% of patients suffering from COPD or unknown liver damage are actually diagnosed with alpha 1 antitrypsin deficiency.

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