Alfa1antitrypsiiniä

Alfa-1-antitrypsiiniä, often abbreviated as AAT, is a protein produced primarily in the liver and released into the bloodstream. Its main function is to protect tissues from damage by enzymes, particularly elastase, which is released by white blood cells. Elastase can break down proteins like elastin, a component of connective tissues in the lungs and other organs. AAT acts as a serine protease inhibitor, neutralizing elastase and preventing it from causing excessive tissue destruction.

A deficiency in AAT can lead to serious health problems. Genetic mutations can result in the production of less AAT or AAT that is not functional. The most common consequence of severe AAT deficiency is lung disease, specifically emphysema, which develops prematurely. In individuals with AAT deficiency, the lungs are not adequately protected from the effects of elastase, leading to the breakdown of lung tissue and difficulty breathing. Liver disease is also a significant risk, as the defective or insufficient AAT can accumulate in liver cells, causing damage.

Diagnosis of AAT deficiency typically involves a blood test to measure AAT levels and genetic testing to identify specific mutations. Treatment focuses on managing symptoms and preventing further damage. For lung disease, this may include avoiding lung irritants like smoke, vaccinations to prevent lung infections, and in severe cases, AAT augmentation therapy, where purified AAT is administered intravenously. Liver transplantation may be necessary for severe liver damage. Research continues to explore new therapeutic strategies for AAT deficiency.