Alpha 1 Antitrypsin Deficiency

What is alpha 1 antitrypsin deficiency?

Alpha 1 Antitrypsin Deficiency (AATD) is a genetic disorder which can cause problems with the lungs and/or liver. Gastroenterologists see patients who are having problems with the liver.

What causes alpha 1 antitrypsin deficiency?

Alpha 1 Antitrypsin is a protein which is processed in the liver. The genetic defect causes a blockage in the final stage of processing the protein, so that only about 15% is secreted into the blood stream. The percentage that is not secreted builds up in the cells of the liver and causes damage. Even though it is called a deficiency, the deficiency is in the amount of antitrypsin in the blood stream. In the liver itself there is an over accumulation in the 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 and abdominal distention. These are caused by the ongoing damage to the liver over time.

How is it diagnosed?

There are blood tests to check the Alpha 1 Antitrypsin level and also a patient’s particular genetic makeup (this can take several forms). Other tests may be done to assess how well the liver is functioning. Liver biopsy may be necessary to determine the extent of damage to the liver.

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.

Outlook:

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.

When to seek medical advice:

See your primary doctor regularly to monitor your liver tests. Seek medical advice if there are signs of compromise to the liver such and swelling of the abdomen, yellow skin or eyes, or dark urine.