Alpha (α) -1 antitrypsin deficiency (A1AD or AATD)

Alpha-1 antitrypsin deficiency (alpha-1)(A1AD) is a genetic disease that can cause serious lung disease that makes it hard to breathe. It can also cause liver disease that leads to jaundice, which makes your skin look yellowish. This condition is passed down from your parents.

There’s no cure for alpha-1, but treatments can help you manage your liver and breathing problems.

How common is alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin deficiency occurs commonly, 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. Many individuals with alpha-1 antitrypsin deficiency are likely undiagnosed, particularly people with a lung condition called chronic obstructive pulmonary disease (COPD). COPD can be caused by alpha-1 antitrypsin deficiency; however, the alpha-1 antitrypsin deficiency is often never diagnosed. Some people with alpha-1 antitrypsin deficiency are misdiagnosed with asthma.

However, it can be managed by reducing your risk factors. Please discuss with your doctor for further information.

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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:

  • You can only get alpha-1 if both your parents carry a faulty gene and pass it to you. If the gene is passed to you from only one parent, you won’t get the disease, but you will be a carrier and can pass the gene to your children.

Symptoms of alpha-1 antitrypsin deficiency include:

  • Shortness of breath
  • Wheezing
  • Rhonchi
  • Rales

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:

  • You need to get blood tests to confirm your diagnosis. Your doctor will take a sample of blood from you and send it to a lab.
  • The blood tests check to see if you have the broken genes that cause alpha-1. They also look to see how much of the protein you have in your bloodstream.
  • X-rays

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:

  • You should not smoke, and you should get a pneumonia vaccine and your annual flu shot.
  • Good nutrition, including supplements with vitamins E, D, and K, can help you keep your liver healthy.
  • Avoid dust and smoke, and wash your hands often to prevent infection. Limit the alcohol you drink to protect your liver.

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