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All about alpha-1 antitrypsin deficiency causes of alpha-1 antitrypsin deficiency symptoms of alpha-1 antitrypsin deficiency diagnosis of alpha-1 antitrypsin deficiency treatment for alpha-1 antitrypsin deficiency

How is alpha-1 antitrypsin deficiency diagnosed?

The diagnosis of alpha-1 antitrypsin deficiency is made by testing the levels of alpha-1- antitrypsin in blood. If they are abnormally low, the next step is to identify the exact alpha-1-antitrypsin protein variants the person carries. Abnormal forms of the alpha-1-antitrypsin protein can be detected using dried blood as a sample for gel electrophoresis. Other tests such as urine collection, ultrasound examination, or tests using specialized X-ray techniques may be necessary. A biopsy of the liver (sampling liver tissue with a needle or by operation) is usually performed to look for liver injury. Relatives who are carriers but do not have the disease can also be diagnosed by blood tests.

 

More information on alpha-1 antitrypsin deficiency

What is alpha-1 antitrypsin deficiency? - Alpha-1-antitrypsin deficiency (A1AD) is a hereditary disorder characterized by low levels of a protein called alpha-1-antitrypsin (A1AT).
What causes alpha-1 antitrypsin deficiency? - Alpha-1 antitrypsin deficiency is caused by a mutation in the proteinase inhibitor (PI) gene on chromosome 14.
What're the symptoms of alpha-1 antitrypsin deficiency? - Alpha-1-antitrypsin deficiency can lead to early onset of emphysema (a degenerative lung disorder) and/or liver failure.
How is alpha-1 antitrypsin deficiency diagnosed? - The diagnosis of alpha-1 antitrypsin deficiency is made by testing the levels of alpha-1- antitrypsin in blood.
What's the treatment for alpha-1 antitrypsin deficiency? - Treatment of alpha-1 antitrypsin deficiency is designed to maintain normal nutrition, to provide the liver and the body with essential nutrients.
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