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Alpha-1 Antitrypsin (AAT) Deficiency

Jul 06, 2024
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There will not be any noticeable respiratory problems until your 20s or 30s. But when AAT Deficiency sets in, you fall short of breath or start to wheeze, just like someone with asthma. Your liver does not produce alpha-1 antitrypsin or AAT, which is supposed to protect the lungs. This condition is called alpha-1 antitrypsin deficiency.

 If these proteins are weak or defective, it can lead to a higher risk of chronic obstructive pulmonary disease (COPD) and start to show emphysema symptoms that make it hard to push air out of the lungs. It can also result in chronic bronchitis. 

However, no two cases of AAT deficiency are similar. It is a genetic disease passed down from parents. Compared to Europe or North America, Asia has a lower AAT deficiency prevalence. The symptoms range from mild to severe.

Symptoms

  • Chronic cough    
  • Phlegm production
  • Wheezing
  • Long-lasting allergies    
  • Frequent Cold   
  • Weight loss   
  • Mildly elevated liver enzymes
  • Severe liver dysfunction
  • Portal hypertension    
  • Severe liver dysfunction

Causes

Due to your parents' defective genes, you have a low level of AAT protein in your blood. Instead of flowing into your bloodstream, the protein can build up in your liver, causing liver disease. Lung illness is caused by a lack of AAT protein in your system. You may also have a slight chance of acquiring lung and liver diseases, especially if you smoke. 

Treatment

There is no cure for AAT Deficiency.  

Typically, medicines and supportive care for illnesses associated with alpha-1 antitrypsin deficiency (AATD) are used to treat the condition. However, augmentation therapy is a unique treatment option for some persons with AATD who have lung difficulties. 

Consult your doctor at Amrita Hospitals for a detailed medical examination and treatment.

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