ACAP1
Description
Alpha-1 antitrypsin (AAT) deficiency is a rare genetic disorder in which the body produces insufficient amounts of a protein called alpha-1 antitrypsin (AAT). AAT is responsible for protecting the lungs from damage caused by inflammation. Without enough AAT, the lungs can become damaged and scarred, leading to emphysema and other lung diseases.
AAT deficiency is typically inherited in an autosomal recessive manner, meaning that both parents must carry the defective gene for the disorder to be passed on to a child. However, there are also rare cases of AAT deficiency that are caused by a spontaneous mutation in the AAT gene.
Symptoms of AAT deficiency typically begin in adulthood, and they may include:
- Shortness of breath
- Wheezing
- Coughing
- Chest pain
- Fatigue
- Weight loss
AAT deficiency can also lead to liver disease, particularly in children.
Associated Diseases
AAT deficiency is associated with a number of diseases, including:
- Emphysema
- Chronic obstructive pulmonary disease (COPD)
- Liver disease
- Asthma
- Bronchitis
Did you Know ?
AAT deficiency is estimated to affect approximately 1 in 2,000 to 1 in 5,000 people worldwide. However, it is likely that many cases of AAT deficiency go undiagnosed.
