Who Is at Risk for Alpha-1 Antitrypsin Deficiency?
People most at-risk for Alpha-1 are those who have a family member with Alpha-1 and those from ethnic backgrounds in which Alpha-1 is known to be common. However, Alpha-1 occurs worldwide. It is estimated that 100,000 people in the U.S. have Alpha-1 deficiency, and over 1 million people have it worldwide. Also, people who have a personal history or family members with signs and symptoms of Alpha-1 are also at greater risk. Medical professionals in North America and Europe as well as the World Health Organization agree that Alpha-1 is largely unrecognized or misdiagnosed. There are several reasons for this: • Not all people with Alpha-1 develop signs and symptoms. This is called “incomplete penetrance.” • There is extreme variation in the symptoms of Alpha-1 and how mild or severe they are — even within the same family. This is called “variable expression,” • How and when Alpha-1 develops can be affected by exposure to environmental risks. • Many of the complications related to Alpha-1
