Alpha-1 antitrypsin deficiency symptoms can vary among people, but most patients will develop respiratory problems such as shortness of breath and wheezing during the early stages of the disease. A few patients also develop liver disease such as cirrhosis. In rare cases, some patients may get a skin condition called panniculitis that causes hardening of the skin and painful lumps or patches on or under the skin.
Lung Problems
Individuals with Alpha-1 antitrypsin deficiency have a higher risk of developing chronic obstructive pulmonary disease (COPD), a lung disorder that can get worse if you smoke. COPD is a lung disease that causes coughing, wheezing and difficulty breathing, especially when you are lying down or exercising.
Emphysema
A small percentage of patients with alpha-1 antitrypsin deficiency develop emphysema, which occurs when the small air sacs in your lungs, called alveoli, become damaged. The most common symptom of emphysema is shortness of breath when you breathe in and out. Other symptoms include a rapid heartbeat, sputum production, chest pain, coughing, wheezing and a barrel shaped chest.
Liver Problems
About 10 percent to 15 percent of individuals with alpha-1 antitrypsin deficiencies develop liver disease. This is most common in adults and usually begins before a person is 40 years old, but it can occur at any age. This can lead to a swollen abdomen, yellowing of the skin and whites of the eyes and swelling in the feet or legs.
The cause of this disease is a mutation in the SERPINA1 gene, which makes an abnormal type of alpha-1 antitrypsin protein. The mutation is called a protease inhibitor (PI) allele.
This enzyme helps protect the lungs and other organs in your body from damage caused by infection or environmental irritants. It can also help prevent some types of cancer.
Most children with AATD don’t have any problems with their liver until they are around 15 years old, but a small number of infants may have jaundice, which is a yellowing of the skin and eyes. The jaundice is treated safely and usually goes away by adolescence.
Some adults who have AATD also develop liver disease in adulthood, but it’s not life-threatening. It’s more common in older people and is usually treatable with medication.
Liver disease can lead to complications such as inflammation of the blood vessels in the kidneys, a serious condition called vasculitis. It’s important to get treatment as soon as you notice any symptoms of liver disease or any other health problem.
A few people with AATD will have a skin condition called panniculitis, which can lead to red, swollen and painful lumps or patches on or under their skin. This can be uncomfortable and make it difficult for them to wear clothes or go outside.
Other symptoms of AATD include rashes and other skin conditions. It can also affect the immune system, causing problems with your white blood cells and other immune cells.
Your healthcare provider will monitor your lung and liver disease and recommend any treatment that is needed. They will work with you to ensure your symptoms are controlled and that you have the best quality of life possible.
