What does Alpha-1 affect?
The rare disorder disorder called alpha-1 antitrypsin deficiency (Alpha-1) can lead to potentially life-threatening lung and liver diseases, including emphysema and cirrhosis. It affects males and females equally. Treatment depends upon what type of illness is caused by Alpha-1.
What is a normal alpha-1-antitrypsin level?
Most hospital laboratories report serum alpha1-antitrypsin levels in milligrams per decimeter, with a reference range of approximately 100-300 mg/dL. Levels less than 80 mg/dL suggest a significant risk for lung disease.
What are the odds of having alpha-1-antitrypsin deficiency?
Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry.
What exposure should people affected with alpha-1-antitrypsin deficiency avoid?
Patients with alpha-1 antitrypsin deficiency should be advised to quit smoking, avoid exposure to occupational dust, and have yearly influenza and pneumococcal vaccinations. This will prevent the progression of lung disease.
How common is alpha-1-antitrypsin deficiency carrier?
An Alpha-1 carrier is a person who has one normal alpha-1 gene (M) and one defective alpha-1 gene (usually Z or S). Being a carrier is very common. It is believed that over 19 million people in the United States are carriers.
Can alpha-1 antitrypsin deficiency cause liver damage?
Approximately 15% of adults with Alpha-1 Antitrypsin Deficiency develop liver damage (cirrhosis) due to the formation of scar tissue in the liver. Alpha-1 antitrypsin deficiency (Alpha-1) is a hereditary genetic disorder which may lead to the development of lung and/or liver disease. It is the most common genetic cause of liver disease in children.
What are the symptoms of alpha-1 antitrypsin (AAT) deficiency?
The first lung-related symptoms of alpha-1 antitrypsin (AAT) deficiency may include shortness of breath, less ability to be physically active, and wheezing. These signs and symptoms most often begin between the ages of 20 and 40.
What are the symptoms of AAT deficiency in the liver?
When the liver is affected by AAT deficiency, symptoms may include tiredness, loss of appetite, weight loss, swelling of the feet or belly, yellowish discoloration of the skin (jaundice) or white part of the eyes, vomiting of blood, or blood in stools.
How does the SERPINA1 gene affect antitrypsin levels?
Other versions of the SERPINA1 gene lead to reduced levels of alpha-1 antitrypsin. For example, the S allele produces moderately low levels of this protein, and the Z allele produces very little alpha-1 antitrypsin.