Alpha-1 Advocacy Alliance - What is Alpha-1 Antitrypsin Deficiency...

Won't you sign up for membership? Simply click HERE
Joining is free, easy and private.

to sign up and become a member of our growing community of committed individuals striving to be well informed and educated about Alpha 1.

Read our Privacy Policy and be assured we are here to help. Let us know what we can do for YOU!

Testing for AAT Deficiency
Simply click HERE Alpha One International Registry
provides AAT Deficiency Testing. This AAT Deficiency Testing is a
COMPLETE CONFIDENCIAL TESTING SERVICE
and WITHOUT COST TO YOU.
This testing will include measuring the CONCENTRATION of AAT in your blood, determining the TYPE of ATT in your blood and (where appropriate) determining your AAT genotype by testing the DNA in your blood; State of the art, full-spectrum Alpha-1 Testing .

Please read the detail at: AAT Deficiency Detection Center

What is Alpha-1 Antitrypsin Deficiency...

Alpha-1 antitrypsin is a protein produced by the liver to protect the human body from damage caused by neutrophil elastase. Neutrophil elastase is an enzyme released by white blood cells during times of inflammation and infection and is necessary in digesting damaged cells and bacteria. When A1AD is not available to neutralize this enzyme, the body tissues are damaged.

Because AAT is made in the liver there is also a strain on the liver. Sometimes individuals develop liver disease due to the Alpha-1-Antitrypsin deficiency either shortly after birth or occasionally later in life. Alpha-1 Antitrypsin Deficiency, referred to as AAT Deficiency or Alpha-1, is an inherited disorder which results in low, or no levels of a substance in the blood called alpha-1 antitrypsin (AAT). This may result in your developing serious lung and/or liver disease or passing the defective AAT gene onto your children. When the abnormal AAT gene is present injury to the lung and/or liver can occur. Alpha-1 antitrypsin (AAT) is a "protein" (also called "alpha-1 proteinase inhibitor"), which circulates in the blood. AAT protects the human tissues from being damaged by other chemicals that are contained in white blood cells.

White blood cells contain chemicals ("enzymes") that help them perform valuable and healthy functions like digesting damaged cells and bacteria, removing pollutants and fighting infections. However, the activities of these substances must be controlled or they can attack normal tissues. Individuals with alpha-1 antitrypsin deficiency have little AAT in their blood; most people have 7 to 10 times more AAT than the person with the alpha-1 deficiency.

Some important facts about Alpha-1...

AAT Deficiency is an inherited genetic disorder resulting in low levels of AAT or none at all.
AAT Deficiency may cause lung disease in adults.
AAT Deficiency may cause progressive liver damage in adults, children and infants.
AAT Deficiency may cause skin disease, Panniculitis.
AAT Deficiency is often under diagnosed.
AAT Deficiency is treatable, not curable.
AAT Deficiency is easily identified by a simple blood test
What happens if there isn't enough Alpha-1 antitrypsin?
When the human body does not release enough alpha-1 antitrypsin, neutrophil elastase is free to destroy sensitive tissue. As a result, the deficiency symptom most commonly manifests as lung disease. The lungs lose some of their ability to expand and contract (elasticity). This leads to emphysema and sometimes makes breathing difficult. Shortness of breath may occur. Alpha-1 Antitrypsin Deficiency is a hereditary defect that causes neo-natal cirrhosis in children and early onset emphysema in adults, usually in the third or forth decade of life. This deficiency manifests most commonly as lung disease, and liver disease, or less commonly, as a skin condition called panniculitis.

What are the more common phenotypes and the levels associated with them?...
The M gene refers to the normal gene. Over 75 alleles (gene variations) have been mapped, some of which can cause Alpha-1. The S, Z and Null genes are the most common ones that cause Alpha-1 deficiencies.

The Null gene is one that produces no detectable levels of Alpha-1. Many Alphas with the Null-Null phenotype are at the greatest risk of developing emphysema, and suffer liver damage as a result Alpha-1.

Alpha-1 levels of 11 µM/L (80-mg%) or less put you at greatest risk of developing Alpha-1 related emphysema. Smokers with intermediate deficiency levels (80 – 160 mg%) are also at increased risk of lung disease.

An alarming 95% of those estimated to have Alpha-1 have not been identified as yet, so it is quite surprising that many in the medical community perceive Alpha-1 to be rare...

Alpha-1 is one of the most common genetic disorders in the world! Alpha-1 is easily misdiagnosed. Many patients are told they have asthma, bronchitis, chronic obstructive pulmonary disease or emphysema caused by smoking or cirrhosis of the liver, even though the patient neither smoked or drank.

Lking for More Information... Need Help Now! Click Here

Return Home | Back to Education Resources | Back to Informational Resources

Alpha-1 Advocacy Alliance, PO Box 202, 103 Rapidan Church Lane, Wolftown, VA 22748
Telephone: 540-948-6777 or 1-866-FOR-A1AA (1-866-367-2122) Fax # 540-948-6763
Copyright © 2006 Alpha-1 Advocacy Alliance, All Rights Reserved

Home | Disclaimer | Privacy Policy