Alpha-1 antitrypsin deficiency is an inherited illness that puts you at risk of hepatitis and lung disease. The protein alpha-1 antitrypsin safeguards the lungs. However,  the alpha-1 antitrypsin proteins become trapped in the liver cells and couldn’t extend to the lungs if they’re not in the proper form.

Between the ages of 20 to 50, individuals with this deficiency begin to show symptoms of pulmonary illness.


Alpha-1 antitrypsin deficiency symptoms may emerge early in life. However, many people don’t notice them until they’re in their forties or fifties. Symptoms of the illnesses include:

  • Asthma
  • Breathing problems
  • Chest discomfort that worsens with breathing
  • Phlegmonous coughing
  • Extreme tiredness

This deficiency may be persistent or manifest itself as flu or cold.  Tiredness, lack of appetite, loss of weight, inflammation of the feet or stomach, jaundice, blood vomiting, and blood in stools are all signs of the deficiency.

Furthermore, it may induce panniculitis, which causes rigid spots and red, painful lumps on the skin in rare instances.


Alpha-1 antitrypsin deficiency is typically diagnosed when you have a liver or lung problem that is linked to it. However, recognizing the symptoms and receiving an early diagnosis is critical for preventing severe disability, particularly when it comes to therapy and lifestyle modifications.

To confirm the diagnosis, you may need to visit multiple experts, or your doctor may request numerous diagnostic tests such as blood tests.


Although there is presently no cure for alpha-1 antitrypsin deficiency, there are therapies available to reduce lung impairment and manage associated consequences. A team of doctors, including a general care physician, a pulmonologist, a gastroenterologist, and a geneticist, is the best way to address treatment. Also, people with AAT deficiency who acquire liver or skin problems will be sent to specialists who specialize in such conditions.

You might require augmentation therapy, which is a long-term treatment for alpha-1 antitrypsin deficiency. This therapy involves receiving the AAT protein, which is acquired from blood donors, via a vein in order to increase the level of protein in the lungs. This slows the degeneration of the lungs. Moderate fever, headaches, vomiting, and dizziness are all possible side effects of this therapy.

Also, if you have this problems, you may additionally need the following:

  • Oxygen therapy
  • Lung transplant
  • Pulmonary rehabilitation
  • COPD and asthma medications

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