Alpha 1-antitrypsin deficiency is a genetic disorder that affects the production of a protein called alpha 1-antitrypsin (AAT) in the liver. This protein plays a crucial role in protecting the lungs from damage caused by enzymes released by white blood cells. When there is a deficiency of AAT, these enzymes can attack and damage lung tissue, leading to respiratory problems.
The prevalence of Alpha 1-antitrypsin deficiency varies among different populations. In the United States, it is estimated that around 1 in every 2,500 to 5,000 individuals have this condition. However, the prevalence can be higher in certain ethnic groups, such as individuals of European descent, where it affects approximately 1 in every 1,500 to 3,500 people.
It is important to note that Alpha 1-antitrypsin deficiency is often underdiagnosed or misdiagnosed, as its symptoms can be similar to other respiratory conditions like asthma or chronic obstructive pulmonary disease (COPD). Early detection and diagnosis are crucial for managing the condition and preventing further lung damage.
If you suspect you or a loved one may have Alpha 1-antitrypsin deficiency, it is recommended to consult with a healthcare professional for proper testing and diagnosis.