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What are the signs and symptoms of lung disease caused by alpha-1 antitrypsin deficiency?

Related Topics: Antitrypsin, Lung Disease

Answers From Experts & Organizations (1)

1,216 Answers
26,171 Helpful Votes

The first signs and symptoms of lung disease caused by alpha-1 antitrypsin deficiency usually appear between ages 20 and 50. The earliest symptoms are:

  • shortness of breath following mild activity
  • reduced ability to exercise
  • wheezing.

Other signs and symptoms can include:

  • unintentional weight loss
  • recurring respiratory infections
  • fatigue
  • rapid heartbeat upon standing
  • vision abnormalities.

Advanced lung disease leads to emphysema, in which small air sacs in the lungs (alveoli) are damaged. Characteristic features of emphysema include:

  • difficulty breathing
  • a hacking cough
  • a barrel-shaped chest.

Smoking or exposure to tobacco smoke accelerates the appearance of symptoms and damage to the lungs.

About 10% of infants and 15% of adults with alpha-1 antitrypsin deficiency have liver damage. Signs of liver disease can include:

  • a swollen abdomen
  • swollen feet or legs
  • yellowing of the skin and whites of the eyes (jaundice)

In rare cases, alpha-1 antitrypsin deficiency also causes a skin condition known as panniculitis, which is characterized by hardened skin with painful lumps or patches. Panniculitis varies in severity and can occur at any age.

This answer should not be considered medical advice...down arrowThis answer should not be considered medical advice and should not take the place of a doctor’s visit. Please see the bottom of the page for more information or visit our Terms and Conditions.up arrow

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Read the Original Article: Alpha-1 Antitrypsin Deficiency

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