Does alpha-1 antitrypsin deficiency affect the liver?
Approximately 15 percent of adults with alpha-1 antitrypsin deficiency develop liver damage (cirrhosis) due to the formation of scar tissue in the liver . Signs of cirrhosis include a swollen abdomen and jaundice.
How does AAT affect the liver?
The intracellular accumulation of AAT mutant Z protein within hepatocytes can cause liver injury, cirrhosis and hepatocellular carcinoma by triggering a cascade of chronic hepatocellular apoptosis, regeneration, and end organ injury.
What accumulates in the liver due to deficiency of alpha antitrypsin?
Patients with the null gene for alpha1-antitrypsin do not produce any alpha1-antitrypsin and are at high risk for emphysema (100% by age 30 years). None with the null gene develops liver disease because of a lack of production, and thus accumulation, of alpha1-antitrypsin in the hepatocytes.
Is AAT produced in the liver?
Alpha-1-antitrypsin (AAt) is a serine protease inhibitor produced primarily in the liver. AAt deficiency, which affects males and females equally, is inherited in an autosomal codominant fashion and primarily results in liver disease, lung disease or both.
Can alpha-1 cause elevated liver enzymes?
After the first year of life, children are most commonly tested for Alpha-1 disease when they develop jaundice or elevations of their liver blood tests during other acute childhood illnesses.
Does Alpha-1 cause elevated liver enzymes?
People with two Alpha-1 Z genes are at greatest risk of Alpha-1 liver disease, although other rarer Alpha-1 genes may increase the risk of liver disease.
Can liver problems cause shortness of breath?
People who have advanced liver disease can have complications that affect the heart and lungs. It is not unusual for a person with severe liver disease to have shortness of breath.
What disease affects liver and lungs?
The hepatopulmonary syndrome (HPS) is a rare lung complication of liver disease. When the liver is not functioning properly, blood vessels in the lungs may dilate. If this is severe enough, the lungs can lose their ability to effectively transfer oxygen to the body.
Is AAT an autoimmune disease?
Besides emphysema and COPD, AATD has been shown to be associated with autoimmune and inflammatory diseases. The association of AAT with rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) was recognized soon after the discovery that AATD was linked to emphysema and COPD (reviewed by Breit28).
How do you know if your liver is hurting?
Pain in your liver itself can feel like a dull throbbing pain or a stabbing sensation in your right upper abdomen just under your ribs. General abdominal pain and discomfort can also be related to swelling from fluid retention and enlargement of your spleen and liver caused by cirrhosis.