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Q.

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
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A.

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.

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Read the Original Article: Alpha-1 Antitrypsin Deficiency