Alpha 1-Antitrypsin Deficiency is the most common metabolic disease affecting the Liver.

And it is the leading cause for liver transplant in newborns.

It is autosomal recessive that affects both the respiratory and the liver.

Often, a decrease amount of this is seen in the blood and in the lungs.

Where as an increase deposit is found in the liver.

The enzyme is produced in the liver with the design to protect the lungs

Can be severe enough to cause COPD like symptoms.

 

Symptoms

  • Shortness of breath
  • Adverse lungs sounds such as rales and rhonchi
  • Wheezing
  • Patients may develop Emphysema even without smoking,however, smoking greatly increases the risk of emphysma
  • Cirrhosis

 

Treatment

  • Treat symptoms
  • Avoid certain inhalents that are damaging
  • IV infusion of enzyme to prevent any further damage
  • A liver transplant in some cases

* As a note –  The discovery of Alpha 1-antitrypsin was done in 1963 by Carl-Bertil Laurell in Sweden

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