1antitrypsiinipuutos

1antitrypsiinipuutos refers to alpha-1 antitrypsin deficiency. It is a genetic disorder that can lead to lung and liver disease. The condition is caused by a mutation in the SERPINA1 gene, which provides instructions for making alpha-1 antitrypsin, a protein that protects the lungs from damage by enzymes. Without enough functional alpha-1 antitrypsin, these enzymes can damage lung tissue, leading to emphysema, especially in smokers.

In the liver, alpha-1 antitrypsin is produced and released into the bloodstream. If the protein is abnormally folded due to the genetic mutation, it can accumulate in liver cells, causing inflammation and damage, which can lead to cirrhosis and liver cancer. The severity of symptoms can vary greatly among individuals, even within the same family.

Diagnosis is typically made through a blood test to measure alpha-1 antitrypsin levels and genetic testing to identify specific mutations. Treatment focuses on managing symptoms and preventing further damage. For lung disease, this may involve avoiding lung irritants, medications to ease breathing, and in severe cases, lung transplantation. For liver disease, treatment depends on the stage of the condition and may include medications, monitoring, or liver transplantation. There is currently no cure for alpha-1 antitrypsin deficiency, but augmentation therapy, which involves infusing alpha-1 antitrypsin protein, can help slow lung damage in some individuals. Genetic counseling is recommended for individuals diagnosed with the condition and their families.