Alpha-1 Antitrypsin Deficiency (Alpha 1)
Alpha 1 occurs when the liver produces too much of the abnormal protein Alpha-1 Antitrypsin (AAT). 85% of the AAT that is produced gets stuck in the liver which can cause major damage and scarring to the liver.
There currently is no way to stop the body from producing too much AAT although there are drugs that can be used to help the side effects of Alpha 1.
How is Alpha-1 genetic and who is at risk?
Alpha-1 has been identified in nearly all populations and ethnic groups.
Alpha-1 is passed on from parents to their children. The normal alpha-1 gene is called M. There are many types of abnormal alpha-1 genes but the most common are called S and Z. Children receive one gene from their father and one from their mother. To show symptoms of Alpha-1 antitrypsin deficiency an individual must have SS, ZZ or SZ.
If someone has two abnormal alpha-1 genes, then their liver makes an abnormal form of the AAT protein. The abnormal protein becomes trapped in the liver instead of being released into the blood. This means that the blood doesn’t get enough of the protein to help other parts of the body. This makes the lungs more sensitive to damage by cigarette smoke and other air pollutants. The build-up of the abnormal AAT protein in the liver can also damage the liver, leading to scar tissue. About 30-40% of people with Alpha 1 end up with liver damage, especially those who are over 50 years old.
Symptoms of Alpha 1
Symptoms related to the liver:
Symptoms related to the lung:
Diagnosis of Alpha 1
Alpha 1 is often misdiagnosed as other diseases such as asthma or bronchitis due to its symptoms.
Alpha 1 can only be diagnosed though laboratory diagnosis, not a clinical diagnosis. A doctor cannot definitively make a diagnosis based on the patient’s medical history or physical examination.
Diagnosis is made by a simple blood test that measures levels of AAT protein is in the blood and also how well the liver is functioning.
To test liver function doctors may use an ultrasound scan. This is a painless procedure using soundwaves through the skin to make a picture of the liver. Doctors can also test liver function by taking a liver biopsy.
How is Alpha 1 treated?
There is no current treatment or cure for the over production of AAT. For those suffering from lung disease as a result of Alpha 1 there is the possibility of Augmentation Therapy. This therapy involves the use of AAT from the blood plasma of healthy human donors to increase the alpha-1 levels circulating in the blood and lungs of those diagnosed with emphysema. Augmentation Therapy is currently not being practised in Australia.
Despite the lack of treatment for the over production of AAT, there are ways to prevent or reduce health problems related to the Alpha 1: