Alpha 1-Antitrypsin Deficiency is the most common metabolic disease affecting the Liver. It is the leading cause for liver transplant in newborns. It is autosomal recessive disorder that affects both the respiratory and the liver. This means that the cause is genetic.

Alpha 1-Antitrypsin is produced in the liver. One its functions is to protect the Lungs. However, there is an increase deposit is found in the liver.  Other organs can be affected as well including: Skin, Kidneys, and others.

Other risk factors include: Smoking and Environmental Factors.

It can be severe enough to cause COPD like symptoms and other respiratory problems or symptoms.

The condition roughly affects approximately 1 in 2,500 people of Europeans descent and severe deficiency can occur less often, in approximately 1 in 5,000.

Interestingly, symptoms are similar to Asthma, that doesn’t resolve with treatment.

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

Diagnosis

1.)  Physical Exam

2.)  Blood testing

3.)  Genetic Testing

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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