A1AT Genetic Illness

Discussion created by Thomas3.20.2010 on Jul 15, 2017
Latest reply on Jul 19, 2017 by elvan

The last mention of it I can find is One Year old so I think it's time to remind everybody that this rare form of COPD does exist and threatens folks who are very young. They are literally born with COPD.

A1AT means alpha 1 antitrypsin. I personally was tested in November 2011 and do not have A1AT.

Alpha-1-antitrypsin (A1AT) deficiency is a genetic disease characterized by low levels and/or function of A1AT protein. This protein, made in the liver, helps protect lung tissues from damage caused by enzymes that are released by white blood cells to combat inhaled irritants such as dust, smoke and pollen. In a person with A1AT, the enzymes attack and damage the lung tissue instead of dissolving the inhaled irritants.  A1AT deficiency can result in the development of COPD, liver disease, and certain skin conditions.Individuals who have any of the following symptoms may be more likely to have A1At deficiency:

- Early onset of Emphysema

- COPD - Emphysema, Chronic Bronchitis or Bronchiectasis

- Family history of Emphysema?COPD, A1AT deficiency, liver disease, or panniculitis

- Asthma with minimal response to mediciation, inhalers

The American Lung Association estimates that there are approximately 100,000 people in the U.S. who suffer from A1AT deficiency and only 6% of those who have A1AT have been properly diagnosed!! The deficiency disguises itself with respiratory symptoms that are common to many other illnesses - coughing, wheezing,and shortness of breath.

 Early detection is very important.You can get a test for this disease at your Doctor's office with a simple prick of your finger. It takes about 3 weeks to get the results.Unfortunately, there is no cure and the damage to your lungs is irreversible. But understanding your condition and managing it well can make a HUGE difference in your Quality of LIFE!!! So if you have any of these symptoms, especially if you are young or haven't really smoked that much, or have been told you have COPD you really should get this test done! Knowledge is POWER!

This man is 32 with severe COPD:

Sea salt lungs – Gazette – Memorial University of Newfoundland