Tuesday, March 18th, 2025

Deficiency of alpha 1 antitrypsin can damage your liver and lungs.


Alpha 1 antitrypsin deficiency is a genetic condition that can cause lung and liver damage. Lung symptoms are generally similar to emphysema such as chronic cough, shortness of breath and wheezing. The risk of lung damage can be reduced with treatment.

The signs, symptoms, and age at onset of alpha 1 antitrypsin deficiency vary from person to person. The first symptoms of lung disease in people suffering from this problem usually develop between the ages of 25 and 50.

What is alpha 1 antitrypsin deficiency?

Alpha 1 antitrypsin deficiency is a genetic disorder. In this condition, the body is not able to produce sufficient amount of protein (AAT) which protects the lungs and liver from damage. Alpha 1 antitrypsin increases the risk of certain diseases such as emphysema, cirrhosis, and panniculitis. Some of these conditions can even be life-threatening. Alpha 1 is also called hereditary COPD or hereditary emphysema.

Due to alpha 1 antitrypsin deficiency

Due to alpha 1 antitrypsin deficiency

The symptoms of lung disease caused by alpha 1 antitrypsin are similar to those of chronic obstructive pulmonary disease (COPD). Lung symptoms usually start between the age of 30 to 50 years and are as follows

Difficulty breathing (dyspnea), especially during exercise or exertion
wheezing sound while breathing
chronic cough often with mucus
feeling more tired
frequent colds and chest tightness

Symptoms of alpha 1 antitrypsin deficiency

Symptoms of alpha 1 antitrypsin deficiency

About 10 percent of infants and 15 percent of adults have alpha 1 liver disease. The signs and symptoms of liver disease are as follows

Jaundice
Itching
swelling in legs and stomach
vomiting blood

Other causes of alpha 1 antitrypsin deficiency

Other causes of alpha 1 antitrypsin deficiency

Just as genes determine the color of eyes and hair, they can also change the way the body functions. Differences (mutations) in a specific gene cause alpha 1 antitrypsin. The Serpina gene produces a protein called alpha 1 antitrypsin which protects the lungs from damage caused by other proteins.

Serpina has several mutations that can change the way the body makes alpha 1 antitrypsin. Some of these tell your body to make AAT, some don’t let your body make it at all, and some make AAT in the wrong way so it can’t reach your lungs. Any of these can cause you to have too little AAT in your lungs, which causes damage.

Treatment of alpha 1 antitrypsin deficiency

Treatment of alpha 1 antitrypsin deficiency

There are several treatment options depending on how alpha one affects you.

Augmentation Therapy
Medicine
oxygen therapy
pulmonary rehabilitation
smoking cessation treatment
lung transplant
liver transplant

Pay special attention to these things
If you have any type of Alpha One then you should avoid alcohol consumption. Alcohol can further increase your chances of liver damage. Apart from this, you also need to avoid taking those medicines which can harm your liver. Your health expert can help you know which medicines you need to avoid.

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