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 is the function of alpha-1 antitrypsin enzyme?
Alpha-1-antitrypsin (AAT) is a protein produced in the liver that protects the body’s tissues from being damaged by infection-fighting agents released by its immune system. In alpha-1 antitrypsin deficiency, the body’s normal production of AAT is reduced, resulting in the destruction of sensitive lung tissue.
What are the symptoms of alpha-1 antitrypsin?
What Are the Symptoms of AAT Deficiency?
- Shortness of breath.
- Excessive cough with phlegm/sputum production.
- Decrease in exercise capacity and a persistent low energy state or tiredness.
- Chest pain that increases when breathing in.
What is the life expectancy of someone with alpha-1 antitrypsin deficiency?
Life expectancy in alpha-1 antitrypsin deficiency With appropriate treatment, most patients would be able to live a good life with normal life expectancy, work, play sports and exercise. The symptoms and complications of liver and lung damage can be managed medically.
What is the treatment for alpha-1 antitrypsin deficiency?
The only specific therapy for alpha-1 antitrypsin deficiency (AATD) is augmentation therapy. During this therapy, preparations of alpha-1 antitrypsin protein that have been isolated from pooled blood of healthy donors are given by weekly intravenous infusion.
Is Alpha-1 Serious?
Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic (inherited) condition – it is passed from parents to their children through their genes. Alpha-1 may result in serious lung disease in adults and/or liver disease at any age.
What disease is associated with alpha-1 antitrypsin?
Alpha-1 antitrypsin deficiency-associated lung disease is characterized by progressive degenerative and destructive changes in the lungs (emphysema, commonly of the panacinar type). Emphysema is a chronic, usually slowly progressive illness, which most commonly causes shortness of breath.
Is alpha-1 antitrypsin treatable?
There is no cure for alpha-1 antitrypsin deficiency. However, the lung diseases that it causes can be treated. The initial treatment is similar to that of emphysema, a type of COPD.
What is normal level of antitrypsin?
But a typical normal result will be between 75 and 150 milligrams per deciliter (mg/dL), depending on how the results were done. If your levels are too low, it may be a sign that you have 1 damaged gene, which means you are a carrier, or 2 damaged genes, which means you have AAT deficiency.
What does it mean if your alpha-1 antitrypsin is high?
What does it mean if your Alpha-1-Antitrypsin, Serum result is too high? Alpha-1-Antitrypsin is an acute phase reactant. This means that it will be elevated in acute and chronic inflammatory conditions, infections, and with some cancers.