Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic condition that can cause damage to the lungs and/or the liver.
What is Alpha-1?
Alpha-1 is a condition that affects the lungs and/or the liver. It is a progressive condition, which means it may worsen over time. It can lead to serious lung and/or liver disease.
Alpha-1 is also known as AAT, AATD, Alpha-1 protease inhibitor deficiency, Alpha-1 related emphysema, genetic emphysema, hereditary pulmonary emphysema, inherited emphysema, or genetic COPD (chronic obstructive pulmonary disease).
Read the What is Alpha-1? brochure to learn more
How common is Alpha-1?
There are about 100,000 people in the United States living with Alpha-1 (and about the same number of people with Alpha-1 living in Europe). Worldwide, the number of people with Alpha-1 is 1 in every 1,500 to 3,500 people of European ancestry.
People of any racial or ethnic group can get Alpha-1, but it is more common in people of northern European backgrounds.
What causes Alpha-1?
Alpha-1 is passed down from parents to children through genes. People with Alpha-1 have mutations in a gene called SERPINA1. The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin (AAT), which protects the body from damage by its immune cells.
If you have Alpha-1, you inherited two copies of the abnormal SERPINA1 gene–one from each parent.
More than 150 different mutations in the SERPINA1 gene have been identified, but only a few can cause serious lung, liver or skin disorders. The most common of these are called S and Z. Many people with Alpha-1, including those with SZ or ZZ mutations, have no symptoms of the condition.
Click here to learn more about Alpha-1 Alleles, including ZZ, SZ, MZ, and MS status.
Can Alpha-1 be prevented? Is there a cure for Alpha-1?
Because Alpha-1 is inherited, there is no way to prevent it. However, if you have Alpha-1, there are steps you can take to reduce your risk of developing lung disease or liver disease. Avoiding behaviors that harm the lung and liver, such as smoking or drinking alcohol, is the best way to stop or slow Alpha-1 from causing damage to the lungs or liver.
There is no cure for Alpha-1, but treatment can help people with Alpha-1 manage symptoms.
There are treatments to slow lung damage caused by Alpha-1 Antitrypsin Deficiency (Alpha-1). Learn about Treatment for Alpha-1.
