Alpha-1 Advocacy Alliance - After The Lung Transplant

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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

How do people
inherit alpha-1 antitrypsin deficiency?

http://ghr.nlm.nih.gov/ghr/disease/alpha1antitrypsindeficiency

This condition is inherited in an autosomal codominant pattern. Codominance means that two different versions of the gene may be expressed, and both versions contribute to the genetic trait.

The most common version (allele), called M, produces normal levels of the alpha-1 antitrypsin protein. Most people have two copies of the M allele (MM), one from each parent. Two altered versions that produce moderately low or very low levels of alpha-1 antitrypsin are called S and Z, respectively. Individuals with two copies of an altered allele (ZZ or SZ) are likely to develop alpha-1 antitrypsin deficiency associated lung or liver disease.

Worldwide, about 116 million people carry a copy of the S or Z allele. Individuals with a MS or SS combination usually produce enough alpha-1 antitrypsin to protect the lungs. Carriers with the MZ alleles, however, have an increased risk for lung disease, particularly if they smoke.

In addition: an excerpt from the ATS papers

http://ajrccm.atsjournals.org/cgi/content/full/168/7/818

Influence of PI*MZ Phenotype on Atopic Disease

A less complete database has been assembled for atopic diseases (see Appendix 8). Although the PI*MS heterozygote may have an increased risk of asthma (208, 209), PI*MZ gene prevalence may (186) or may not (201, 210–212) be higher than in the general population of patients with asthma. Other studies have reported an increase in PI*MZ prevalence in populations with aspirin-sensitive asthma (213), nasal polyposis, and sinusitis (214, 215).

Other respiratory diseases that have been reported as occurring more frequently among PI*MZ individuals include community-acquired pneumonia (216), rheumatoid interstitial lung disease (217), and Wegener's granulomatosis (10).

Summary

The influence of the PI*MZ phenotype on respiratory disease appears to be established with an increased risk of chronic obstructive pulmonary disease. From the available studies, the concept of a multifactorial genetic, smoking, and environmental interaction has been established for PI*MZ patients. The usual PI*MZ individual who smokes has mild spirometric abnormalities that manifest later in life. A more substantial risk for symptomatic COPD may occur during the stresses of environmental and occupational challenge in heavy cigarette smokers, particularly in relatives of patients with obstructive lung disease.

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