Alpha-1 Antitrypsin Deficiency: Symptoms

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

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, and
  • wheezing.

Other signs and symptoms can include:

  • unintentional weight loss,
  • recurring respiratory infections,
  • fatigue,
  • rapid heartbeat upon standing, and
  • 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, and
  • a barrel-shaped chest.

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

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

  • a swollen abdomen,
  • swollen feet or legs, and
  • 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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Comment from: SANDYALPHA, 45-54 Female (Patient) Published: April 25

My symptoms of alpha-1 antitrypsin deficiency came on quick. And I never knew, till now they kept saying COPD, then a doctor finally said there was something else going. After 3 day in ICU and many tests, they found it. I wish they could find this stuff earlier in life because I would have lived mine a lot different.

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Comment from: janice, 55-64 Female (Patient) Published: February 24

I was sick from birth, but finally got a diagnosis of alpha-1 antitrypsin deficiency in 2004. I always extend helping hand to those who are not sure or have questions or afraid to get in touch with me. I am on IV augmentation therapy every week. This drug can slow the process down. It is called Prolastin C. I am on oxygen 24/7 and tire very easily. There aren"t many of us, but we are all part of the alpha family now.

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