Causes of Alpha-1 liver disease

The causes of liver disease in Alpha-1 are less understood than the causes of lung disease in this condition. Most Alpha-1 liver research suggests that the abnormal Alpha-1 Antitrypsin protein cannot move from the liver cells (where it is made) out into the bloodstream because the protein does not fold normally.

The buildup of abnormal Alpha-1 protein inside the liver cells can cause stress and irritation in the liver, which may eventually lead to scarring (or fibrosis) in the liver. Scarring of the liver is a sign of more important liver disease. Severe scarring is called “cirrhosis” and often leads to liver failure. Only very few people with A1AD develop severe liver disease with cirrhosis and liver failure, and scientists believe that this may be because of the presence of other genetic and/or environmental factors. Further research is needed to clarify what these genetic and environmental factors are and how they work to change the risk of liver disease.


Diagnosis of Alpha-1 liver disease

Alpha-1 liver disease is usually detected by simple blood tests. If more advanced liver problems appear, your doctor may recommend tests such as an ultrasound, an abdominal CT scan, or a liver biopsy.

A liver biopsy can evaluate the severity of the liver injury and can help evaluate whether other liver conditions are contributing to your liver problems. Liver biopsy carries with it an extremely small but serious risk of side effects such as bleeding and so is reserved for patients with ongoing liver problems. When a liver biopsy from an individual with Alpha-1 is examined under a microscope the liver cells appear filled with granules, which are actually abnormal Alpha-1 Antitrypsin protein that can’t be cleared from the liver. These granules are present even in individuals who don’t have Alpha-1 related liver disease.


DISCLAIMER: This website is designed to support, not replace, the relationship that exists between you and your physician. It is not the intention of this website to provide specific medical advice but rather to provide the Canadian Alpha-1 Community with information to better understand their health and their diagnosed disorder. Specific medical advice will not be provided and Alpha-1 Canada urges you to consult with a qualified physician for diagnosis and for answers to your personal questions.