Alpha-1 antitrypsin deficiency runs in families. If you have it, it means you got it from faulty genes that both your parents passed on to you.
However, in some people, they get the genes but don’t get any signs or symptoms, or they have the mild version of the disease.
The buildup in your liver causes liver disease. The shortage of alpha-1 protein in your bloodstream leads to lung disease.
You may have higher risks for this condition if you are experiencing these following conditions:
Symptoms of alpha-1 antitrypsin deficiency include:
The patient’s signs and symptoms may resemble recurrent respiratory infections or asthma that does not respond to treatment.
Many individuals with A1AD may develop emphysema during their thirties or forties even without a history of significant smoking, though smoking greatly increases the risk for emphysema.
A1AD causes impaired liver function in some patients and may lead to cirrhosis and liver failure.
In newborns, alpha-1 antitrypsin deficiency has indicators that include early onset jaundice followed by prolonged jaundice. It is a leading indication for liver transplantation in newborns.
If your doctor suspects that you experience alpha-1 antitrypsin deficiency, he/she will perform an exam thoroughly to determine this condition, your health care provider will perform a thorough physical exam, discuss with you the type of symptoms you are experiencing, and ask you several questions about the signs and symptoms that you are experiencing.
Then your healthcare providers will order some tests to determine the condition:
Your doctor will also order tests of your lungs and liver to see how much damage alpha-1 has caused. For example, a chest X-ray shows signs of emphysema.
A special blood test checks the oxygen level in your arteries, a sign of how well your lungs are working. You might breathe into a tube to see how much air you’re getting into your lungs.
Another blood test checks for problems with your liver. Your doctor may also do a liver biopsy. He’ll insert a very thin needle into your liver to take some cells and check for signs of damage.
There is no cure for alpha-1, but you can raise the amount of alpha-1 protein in your blood, which protects you against more lung damage. This is called augmentation therapy. You may get this treatment if you develop emphysema.
Augmentation therapy is also called “replacement therapy.” You get a new supply of alpha-1 protein that’s taken from the blood of healthy human donors.
Depending on how you’re doing, you also may get medication that you breathe into your lungs with an inhaler. This is called a bronchodilator. It opens your airways.
Some tips that you should follow: