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Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin (AAT) deficiency is and inherited condition which means parents can pass the disease to their children. AAT is a protein produced by the liver but helps the lungs to breathe. It protects the lungs from injury like smoking and infections. In this disorder, the AAT protein gets stuck in the liver causing damage. Then the protein cannot go to the lungs to protect them.
What are the symptoms of Alpha-1 antitrypsin deficiency?
AAT deficiency can cause liver disease, lung disease and skin disease. Many signs and symptoms of AAT deficiency can be seen in other causes of liver inflammation. These include yellow eyes, yellow skin (jaundice), dark urine, itching (pruritis), fatigue, abdominal pain, enlarged liver or spleen, and poor appetite. Some people have no symptoms at all and just have abnormal liver tests. Liver disease can develop at any age.
Lung disease can cause shortness of breath, cough, fatigue, wheezing and frequent lung infections. Lung disease usually develops between 20 and 50 years of age.
Skin disease can cause hard skin or painful bumps in the skin.
How is Alpha-1 antitrypsin deficiency diagnosed in children?
Blood tests often show high liver enzymes. Labs tests can also be used to look for the gene that shows if your child has the disease or is a carrier of the gene for the disease.
What is the treatment for Alpha-1 antitrypsin deficiency?
There is no treatment to cure this disease. There are treatments to manage the symptoms of liver disease. People with liver disease require routine lab monitoring. There is medication to treat and prevent the lung disease in adults caused by the lack of protein going to the lungs. It is also important to avoid smoking to prevent lung damage.
What is the long-term outlook of Alpha-1 antitrypsin deficiency?
People with AAT deficiency can develop scarring of the lung (emphysema) and scarring of the liver (cirrhosis). A small number of people will go on to need a liver transplant because the liver will stop working properly or they get liver cancer.