What is alpha 1 antitrypsin deficiency?
Alpha 1 Antitrypsin (A1AT) deficiency is a genetic disorder which can cause problems with the lungs or liver depending on which variation in the gene has been inherited. You receive 1 copy of this gene from each parent. Gastroenterologists see patients who are having problems with the liver.
What causes alpha 1 antitrypsin deficiency?
Alpha 1 Antitrypsin is a protein which is made in the liver. The genetic changes associated with liver injury are ones which cause the protein to fold abnormally preventing it from being released out of the liver into the blood stream. Often only about 15% is released into the blood stream. The protein that is not released into the blood stream builds up in the cells of the liver causing damage either by directly plugging the liver cells or by triggering inflammation and damage. Even though it is called a deficiency, the actual deficiency is only the reduced amount of antitrypsin released from the liver to the blood stream and the lungs where it works to prevent damage to lung tissue. Due to this failure to release there is an over accumulation of antitrypsin protein in the liver cells.
What are the symptoms?
Often patients have no symptoms directly related to the liver. When they do, it may manifest with typical symptoms of cirrhosis such as fatigue, yellowing of the skin and eyes, dark urine, itching, or abdominal swelling. These are caused by the ongoing damage to the liver over time.
How is it diagnosed?
There are blood tests to check the type of Alpha 1 Antitrypsin protein programmed by the 2 genes you received from each of your parents. The level of effective A1AT present in your blood stream may also be tested. This will more reflect the risk of developing lung disease as A1AT is an important protein protecting lung tissue from damage. If the levels in the blood stream are too low the lungs are at risk. Other tests may be done to assess how well the liver is functioning. Liver biopsy or other tests may be necessary to determine the extent of damage to the liver and to exclude other additional causes of liver disease.
How is it treated?
There are no medications for treating the condition itself. Avoiding alcohol, avoiding smoking, maintaining a normal weight, eating a good diet, and taking only prescribed medications are general measures which promote overall liver health. If the condition has progressed to cirrhosis, imaging of the liver is done on a periodic basis to monitor for liver cancer.
With AATD there is an increased risk of both cirrhosis and liver cancer. Depending on the genetic profile of the disease and the severity of the damage to the liver, liver transplant may be considered if the damage becomes severe.
When to seek medical advice:
See your primary doctor regularly to monitor your liver tests. This is the best way to uncover problems before they become severe. Seek medical advice if there are signs of compromise to liver function such as swelling of the abdomen from fluid, yellow skin or eyes, dark urine, itching, bleeding, or unexplained episodes of confusion.