ABTB1

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About Alpha-1 Antitrypsin Deficiency (AATD)

Description

Alpha-1 antitrypsin deficiency (AATD) is a genetic condition characterized by a deficiency in alpha-1 antitrypsin (AAT), a protein produced by the liver that protects the lungs from damage caused by inflammation. AAT deficiency can lead to serious lung diseases, such as emphysema and chronic obstructive pulmonary disease (COPD).

Associated Diseases

AATD is primarily associated with:

• Emphysema - A chronic lung disease that causes shortness of breath and coughing
• Chronic obstructive pulmonary disease (COPD) - A progressive lung disease that causes difficulty breathing
• Cirrhosis - A chronic liver disease that can lead to liver failure

Did you Know ?

• Approximately 1 in 2,500 people worldwide have AATD.
• In the United States, around 100,000 people are estimated to be affected by AATD.