Alpha 1 Antitrypsin Deficiency

Alpha 1 is the common name for a genetic condition called Alpha 1 Antitrypsin Deficiency. If a person has Alpha 1, the body is unable to produce a protein known as Alpha 1 Antitrypsin, or AAT for short. This protein plays an important role in protecting the lungs from damage due to excessive inflammation. Without this protein present in the blood, the lungs may weaken over time and place the person at a higher risk for developing serious diseases, such as early-onset emphysema often misdiagnosed as chronic obstructive pulmonary disease (COPD). An abnormal amount of AAT in the liver can also cause liver disease. In some rare cases, AAT can also cause a skin disease called panniculitis, which results in painful, red nodules on the skin. The effect AAT deficiency has on a person’s lifespan can depend on several factors, including how quickly a person is diagnosed, how quickly the condition is progressing, and the extent organs are damaged at the time of diagnosis.

Alpha 1 occurs when a patient has two copies of a mutated SERPINA1 gene, one from each parent. This is the gene which controls AAT protein production. If a person has just one copy of the mutated gene, they are considered a carrier of AAT deficiency and may pass the gene on to a child and can have an elevated risk of developing lung disease.

Common symptoms of AAT deficiency related lung disease include: wheezing, shortness of breath, fatigue, frequent colds and cases of the flu, and chronic cough with phlegm. Since AAT deficiency can affect the liver, symptoms may also include jaundice, swelling in the legs or abdomen, and vomiting blood.

Currently there is no cure for Alpha 1 Antitrypsin Deficiency. However, healthcare practitioners may advise treatment options for lung emphysema to help people lead full lives, such as medication, augmentation therapy, pulmonary rehabilitation, and oxygen therapy. A lung or liver transplant may be an option if those organs have been severely damaged by disease. People may also be advised to take other steps to help their condition, such as quitting smoking and avoiding environmental dust.