Alpha-1 antitrypsin deficiency
(A1AD) is a disease passed down from your parents. It can cause lung and liver disease. Alpha-1 antitrypsin is a protein the liver makes to protect the lungs and other organs from harmful effects that may be caused by other proteins in the body.
What does alpha antitrypsin do?
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
.
What is the life expectancy of someone with 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
.
Is A1AD hereditary?
Alpha-1 antitrypsin deficiency (A1AD) is
a hereditary disorder
characterized by low levels of a protein called alpha-1 antitrypsin (A1AT) which is found in the blood.
What does antitrypsin mean?
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. Symptoms of AAT deficiency include. Shortness of breath and wheezing.
Can Alpha-1 be cured?
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.
Is Alpha-1 a terminal illness?
Alpha-1
antitrypsin deficiency
– a potentially fatal disease.
What are the signs and symptoms of lung disease caused by alpha-1 antitrypsin deficiency?
- 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.
Do both parents have to have Alpha-1 antitrypsin deficiency?
Both parents must have
at least one copy
of the abnormal alpha-1 antitrypsin deficiency gene in order for their child to inherit the disease.
What are the signs of alpha-1?
- Allergies that last all year.
- Extreme tiredness.
- Frequent chest colds.
- Shortness of breath.
- Unexplained weight loss.
- Wheezing.
Is AAT deficiency rare?
Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects
about 1 in 1,500 to 3,500 individuals
with European ancestry. It is uncommon in people of Asian descent.
What does it mean to be an alpha-1 carrier?
An Alpha-1 carrier is
a person who has one normal alpha-1 gene (M) and one defective alpha-1 gene (usually Z or S)
. Being a carrier is very common. It is believed that over 19 million people in the United States are carriers. Most Alpha-1 carriers are MZ or MS.
How is A1AD diagnosed?
The only way to accurately diagnose A1AD is
with blood tests
. These tests look at the genes associated with the condition, the type of alpha-1 antitrypsin protein present in the blood, and the amount of alpha-1 antitrypsin in the blood.
What causes antitrypsin deficiency?
Alpha-1 antitrypsin deficiency (AATD) is caused by
changes (pathogenic variants, also known as mutations ) in the SERPINA1 gene
. This gene gives the body instructions to make a protein called alpha-1 antitrypsin (AAT). One of the jobs of AAT is to protect the body from another protein called neutrophil elastase.
Is Alpha-1 a rare disease?
Alpha-1 antitrypsin (AAT) deficiency is
a rare genetic disorder
that is passed on in families and can affect the lungs, liver and/or skin. When this condition affects the lungs, it causes COPD (chronic obstructive pulmonary disease).
How is COPD caused?
Smoking
.
Smoking
is the main cause of COPD and is thought to be responsible for around 9 in every 10 cases. The harmful chemicals in smoke can damage the lining of the lungs and airways. Stopping smoking can help prevent COPD from getting worse.
