This deficiency is basically the lack of an enzyme called Alpha 1 Antitrypsin. This is a pulmonary disease that is characterized by symptoms like wheezing, shortness of breath, breathing problems and rales. Also, infections and asthmatic attacks can keep recurring as a symptom of this disease. This condition can also cause liver failure.
HOW IS ALPHA-1-ANTITRYPSIN DIAGNOSED?
A1AD is a common genetic disorder that is often undiagnosed. This deficiency is often labelled as COPD. However, pulmonologists may check the serum A1AT level for confirming A1AD. A low level of serum A1AT confirms A1AD, which is further diagnosed through A1AT protein phenotyping and A1AT genotyping.
HOW IS ALPHA-1-ANTITRYPSIN TREATED?
Augmentation therapy is the most common treatment for lung-affected patients of A1AT deficiency. Meanwhile, treatment of A1AD-related liver damage focuses on alleviating the symptoms of the disease. In severe cases, a liver transplant may be necessary.
DID YOU KNOW?
Alpha- 1- antitrypsin deficiency was discovered after noting the absence of alpha -1 band on the protein electrophoresis in five of 1500 samples; three of the five patient samples were found to have developed emphysema at a young age.