What does alpha-1 antitrypsin deficiency mean?
Alpha-1 antitrypsin deficiency (AAT deficiency) is an inherited condition that raises your risk for lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver makes it. If the AAT proteins aren’t the right shape, they get stuck in the liver cells and can’t reach the lungs.
What are the consequences of alpha-1 antitrypsin deficiency?
Alpha-1 antitrypsin deficiency (AATD) is an inherited disease that causes an increased risk of having chronic obstructive pulmonary disease (COPD), liver disease, skin problems (panniculitis), and inflammation of the blood vessels (vasculitis).
What 2 organs does alpha-1 antitrypsin deficiency affect?
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease.
What causes a1 antitrypsin deficiency?
AAT deficiency means there is not enough of this protein in the body. It is caused by a genetic defect. The condition is most common among Europeans and North Americans of European descent. Adults with severe AAT deficiency will develop emphysema, sometimes before 40 years of age.
Is alpha-1 a terminal illness?
Outlook / Prognosis
Many people with Alpha-1, especially those who do not smoke, do not develop serious complications. They have a normal life expectancy. Other people may develop more serious conditions as a result of the disorder.
What are the symptoms of alpha-1 deficiency?
Individuals with AAT deficiency have a wide variety of symptoms which may include:
- Shortness of breath.
- Excessive cough with phlegm/sputum production.
- Wheezing.
- Decrease in exercise capacity and a persistent low energy state or tiredness.
- Chest pain that increases when breathing in.
What is the life expectancy for alpha-1?
How does Alpha-1 lung disease affect my life expectancy? People who continue to smoke and have Alpha-1 lung disease, have an average life expectance of about 60 years of age.
How long can a person live with alpha-1 antitrypsin deficiency?
METHODS–The survival times of 397 patients with severe alpha 1-antitrypsin deficiency identified by pulmonary impairment (index cases) or through family studies (non-index cases) were compared. RESULTS–The overall median survival time was 54.5 years with no significant difference between men and women.
What can be done for alpha-1 deficiency?
There is no cure for AAT deficiency, but there are treatments to slow the lung damage it causes. You may need a lifelong treatment called augmentation therapy. This treatment raises the levels of the AAT protein in your lungs, using ATT protein taken from the blood of donors. This helps slow down lung damage.