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Alpha-1 Antitrypsin


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#1 SofiEmiMom

SofiEmiMom

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Posted 25 July 2004 - 01:03 PM

Hello. I know it's a big shot in the dark, but just wondering if anyone else has been diagnosed with Alpha-1 Antitrypsin deficiency? I feel like I lost the gene pool gamble. I have Celiac and because two cousins of mine have Alpha-1 I was tested and diagnosed with it as well. Absolutely nothing you can do about it - just makes a person aware that there lungs and liver are not protected making them more susceptible to lung and liver disease. It's just as difficult for doctors to identify this as it is for Celiac. This is a decsription of Alpha-1 from the alpha1.org website:

What is Alpha-1?
Alpha-1 Antitrypsin Deficiency (AAT Deficiency or Alpha-1) is one of the most common serious hereditary disorders in the world and can result in life-threatening liver disease in children and adults or in lung disease in adults.

Alpha-1 has been identified in virtually all populations. An estimated 100,000 Americans and a similar number in Europe have the severe deficiency.

An estimated 25 million people in the U.S. carry a single deficient gene that causes Alpha-1 and may pass the gene on to their children.

Alpha-1 is widely under-diagnosed and misdiagnosed.

Less than 10% of those predicted to have Alpha-1 have been diagnosed

It often takes an average of three doctors and seven years from the time symptoms first appear before proper diagnosis is made.

Alpha-1 can be detected by a simple blood test.

Alpha-1 can lead to lung destruction and is often misdiagnosed as Chronic Obstructive Pulmonary Disease (COPD) or asthma.

Lung disease is the most frequent cause of disability and early death among affected persons striking in the prime of life -- and a major reason for lung transplants.

Alpha-1 originates in the liver and can lead to liver failure at any time in life. It is the leading genetic cause of liver transplantation in children. Currently, the only treatment for the liver disease of Alpha-1 is a liver transplant.


The most common signs and symptoms of Alpha-1 are:
Family history of lung disease or infant liver disease
Recurring respiratory infections
Shortness of breath or awareness of one's breathing
Rapid deterioration of lung function without a history of significant smoking
Decreased exercise tolerance
Chronic liver problems
Non-responsive asthma or year-round allergies
Elevated liver enzymes
The World Health Organization (WHO) recommends that all individuals with COPD, as well as adults and adolescents with asthma (an estimated 30 million Americans) be tested for Alpha-1.
For more information on Alpha-1, please call the Alpha-1 Foundation toll-free at:
1-877-2 CURE A1 (or 1-877-228-7321)
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