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Alpha-1 Antitrypsin Deficiency : Overview

What Is AAT Deficiency?

Alpha-1 antitrypsin deficiency may be a 
genetic disorder , which suggests it’s passed right down to you from your parents. It can cause serious lung or liver disease. You may also hear it called AAT deficiency. Symptoms often include trouble breathing and jaundiced, or yellow, skin.

There's no cure, but treatments can assist you 
manage your liver and breathing problems.

You get the disease because your liver doesn't make enough of a protein called alpha-1 antitrypsin, or AAT. You need AAT to protect your lungs. Without it, infections and other irritants, like tobacco smoke, break down parts of your lung even faster.

If you've got 
AAT deficiency, you would possibly not have breathing symptoms until you're in your 20s or 30s. When they start, you could feel short of breath or wheeze when you breathe, just like someone who has asthma.
For some people, AAT deficiency can cause chronic obstructive pulmonary obstructive disease (COPD). When you have COPD, you regularly have symptoms of emphysema, a significant condition that creates it hard for you to push air out of your lungs. COPD can cause you to cough up mucus, cause you to wheeze or have trouble breathing, and make your chest feel tight.


Symptoms of AAT Deficiency

You might not know you've got 
the disease until you're an adult. Most people get it between the ages of 20 and 40. You may feel in need of breath, especially once you attempt to exercise. You also could start to wheeze or have a whistling sound when you breathe.

You may also get tons 
of lung infections. Other warning signs include:


·         Feeling tired

·         Your heart beats fast when you stand up

·         Weight loss

If AAT deficiency causes problems together with your 
liver, you'll have symptoms like:


·         Yellowish skin or eyes

·         Swollen belly or legs

·         Coughing up blood

A newborn baby might have:


·         Jaundice, a yellow tint to the skin or eyes

·         Yellow urine

·         Trouble gaining weight

·         An enlarged liver

·         Bleeding from the nose or umbilical stump

It’s rare, but some people also get a disease of the skin 
called panniculitis. It causes hardening of the skin along side painful lumps or patches.


Causes of AAT Deficiency

Alpha-1 antitrypsin deficiency runs in families. If you have it, you got it from faulty genes that both your parents passed down to you. Some people get the genes but don't have any symptoms. Or they need 
a light version of the disease. The broken genes you get from your parents cause you to possess a coffee level of AAT protein in your blood. It can build up in the liver instead of going into your bloodstream.

That buildup in your liver causes liver disease. The shortage of AAT protein in your bloodstream results in 
lung disease.


AAT Deficiency Treatment

Although there’s no cure for AAT deficiency, you'll 
raise the quantity of AAT protein in your blood, which protects you against more lung damage. Doctors call this augmentation therapy. You may also have this treatment if you get emphysema.

Augmentation therapy is also called replacement therapy. You get a replacement 
supply of AAT protein that comes from the blood of healthy human donors. You get the treatment once a week. The replacement alpha-1 gets into your body through an IV. You can have this done at home with the help of a technician, or you can go to a doctor's office.

The goal of augmentation therapy is to slow or stop the damage in your lungs. It won't reverse the disease or heal any damage you have already got 
. You’ll need these treatments for the rest of your life. Depending on how you're doing, you furthermore may may get medication that you simply breathe into your lungs with an inhaler. Doctors call this a bronchodilator, meaning that it opens your airways. If your breathing trouble results in low levels of oxygen in your blood, you would possibly got to get extra oxygen through a mask or nosepiece. Your doctor also will offer you a referral for pulmonary rehab to assist you breathe better.



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