A summary of research published in the Journal of Clinical Medicine
Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that can affect the lungs and the liver. Some people with AATD may not experience symptoms for many years, but it can increase the risk of lung or liver disease over time.
There are different forms of AATD depending on the genes a person inherits. This study focused on a severe form of AATD called PiZZ. PiZZ means a person has inherited two copies of the Z variant of the gene, one from each parent. People with PiZZ have very low levels of alpha-1 antitrypsin (AAT) in the blood. AAT is a protein that helps protect the lungs from damage.
Researchers in Sweden followed 95 people with severe AATD (PiZZ) who were identified through newborn screening in the early 1970s. When they were around 50 years old, their health was assessed. These results were then compared with people of the same age who did not have AATD.
The researchers wanted to understand whether people with severe AATD showed signs of liver disease by middle age and whether routine blood tests were able to detect these changes.
Liver health was assessed using a scan called transient elastography. This scan measures how stiff the liver is. Increased stiffness can be a sign of scarring on the liver, known as fibrosis.
The researchers also used blood tests to assess liver health and collected information about medical history, lifestyle and alcohol use. They reviewed long-term health records to understand how many people developed serious liver disease or died during the follow-up period.
The researchers found that:
The higher liver stiffness measurements suggest that some people with severe AATD may already have early signs of liver scarring by middle age, even if they do not have symptoms. The findings also suggest that routine blood tests may not always detect early liver changes in people with AATD.
This study suggests that people with severe AATD may develop early liver changes by around the age of 50, even if they have no symptoms and routine blood tests appear normal.
The findings also suggest that scans, such as transient elastography, may detect these changes earlier than standard blood tests. This could help support closer monitoring of liver health in people with severe AATD as they get older.
Future research involving larger and more diverse groups of people with severe AATD could help confirm these findings and improve understanding of liver disease risk across different populations.
