Alpha 1 Antitrypsin

  • Denotated as AAT or A1AT.
  • Protein produced in liver.
  • Used to protect the body tissue from infection fighting agents released from their own immune system especially their lungs.
  • Deficiency in AAT is a genetic disorder that is inherited
  • Symptoms usually appear in people between 20 and 50 years old.
  • Can be misdiagnosed as asthma in younger ages due to similar symptoms.
  • No cure only treatment.
  • Catching the AAT deficiency sooner has better quality of life for patients.
  • Blood test can help with early diagnoses and see what level of AAT is being produced.

Alpha 1 Antitrypsin, denoted as AAT or A1AT, is an important protein that is produced in the liver. AAT is an inhibitory protein with a potentially larger function against inflammatory diseases yet currently the main physiological function seems to protect the body from neutrophil elastase (3). Neutrophil elastase is helpful during an infection and can neutralize bacteria however it can also damage normal cell tissue including tissue in the lungs and liver. AAT can regulate neutrophil elastase to minimize this damage to normal cell tissue. (3)

Issues can arise though if an individual has an AAT deficiency which is an inherited genetic disease (1). It can be misdiagnosed, especially early on in life, as asthma due to the fact asthma shares some similar symptoms of AAT deficiency like shortness of breath with the medicine and treatment for asthma helping minimize the AAT deficiency symptoms as well (1). The lack of AAT has some damaging effects on the body especially the lungs. It leads to lung diseases like COPD and Emphysema which is potentially made worse if the individual smokes (4).

Typically, AAT deficiency goes unnoticed with symptoms appearing between the age range of 20 to 50 years old (1). Some of the best ways to detect if someone has a AAT deficiency is through a blood test or genetic testing. A blood test can measure the levels of AAT protein in your blood which can be a helpful first step in a diagnosing someone with the disease if their AAT levels are lower than the normal ranges. From there, genetic testing can be used to further determine if the individual has one of the many mutated alleles with the two most common deficient AAT alleles being PiS and PiZ (5).

Catching AAT deficiency as soon as possible helps those afflicted with the genetic disorder to live longer lives. Treatment early on can help reduce the long-term effects AAT deficiency has on the lungs.

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