Alpha-1-antitrypsin+deficiency

[|Alpha-1-antitrypsin deficiency] =**Alpha-1-Antitrypsin Deficiency**=

**Q: On what chromosome is the affected gene located?**
The affected gene is called SERPINA1 and is located on the long arm of chromosome 14. SERPINA1 is supposed to assist in producing a protein called alpha 1 antitrypsin, which protects body tissues from neutrophil elastase. Neutrophil elastase is an enzyme that is supposed to protect the body against infections, but needs to be kept in check by alpha 1 antitrypsin. Neutrophil elastase can attack body tissues (more commonly the lungs and liver) if not kept under control. Mutation of the SERPINA1 gene can lead to a lack of alpha 1 antitrypsin.

**Q: How is it inherited?**
It's inherited in an autosomal codominant pattern.

**Q:** What are the symptoms?
Wheezing, weight loss, respiratory infections, fatigue, vision impairment, and an increased heart rate after standing up.

**Q: What groups are affected the most by AAT(Alpha 1 Antitrypsin Deficiency)?**
Caucasians and people in Scandinavia and in northwestern Europe.

Q: How would a doctor test for AAT?
Genetic tests are the most efficient tests, but a blood test could also be used.

**Q: What treatments are available?**
There is no cure for AAT yet, but it isn't always fatal. AAT can cause lung diseases, but those can be treated. The symptoms can also be treated with medicines, rehab, extra oxygen if necessary, a lung transplant, and vaccines. Reducing stress, regular physical activity, and a healthy diet also help with treating AAT.

It's estimated that about 95% of people who have AAT haven't been diagnosed for it. The symptoms of AAT are also similar to that of asthma, so people with AAT are often misdiagnosed as having asthma.



Sources for information: http://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency http://www.medicinenet.com/alpha_1_antitrypsin_deficiency/article.htm http://www.netdoctor.co.uk/diseases/facts/alpha1def.htm http://www.myalpha1solutions.com/alpha-1-antitrypsin-deficiency-faqs.aspx http://learn.genetics.utah.edu/content/disorders/whataregd/a1ad/