About alpha-1 antitrypsin deficiency

What is alpha-1 antitrypsin deficiency?

The Alpha-1 antitrypsin deficiency is a condition or disease that causes the body to not produce enough Alpha-1 antitrypsin (AAT) protein. This protein is majorly produced in the liver and provides protection in the form of being a shield for the body tissues and preventing these body tissues from suffering any damage when the immune system is fighting an infection. The alpha-1 antitrypsin deficiency is a rare disorder and is categorized as being severe and life-threatening as it can lead to the destruction of tissues of the lungs and even cause liver cirrhosis and emphysema. The major indication of this deficiency is that the liver is already infected and cannot produce this protein. It also means that the lung sacs are not protected. Since this alpha-1 antitrypsin deficiency is a genetic disorder, it can get passed down to the next generation, leading to symptoms developing from childhood.

What are the symptoms for alpha-1 antitrypsin deficiency?

The alpha-1 antitrypsin deficiency is a genetic condition and often people do not notice the symptoms until they are 20 years old. Some people have no specific symptoms at all and do not know that they are suffering from this genetic disorder. On the other side, children too can exhibit signs but these cases are not very common. Since the alpha-1 antitrypsin deficiency is related to the liver not producing enough of this protein and the lungs are not being supplied by the same, most of the symptoms are similar to those seen in liver or lung diseases. These symptoms are:


·        Long lasting allergies

·        Wheezing

·        Extreme fatigue

·        Shortness of breath

·        Rapid heart rate

·        Chest colds that are very frequent in nature

·        Sudden and unexplained loss of weight

·        Getting bruised easily

·        Yellowing of the skin

·        Belly vecoming swollen due to fluid retention

·        Nausea and blood present in vomit

·        Bee sting

What are the causes for alpha-1 antitrypsin deficiency?

The main cause of the alpha-1 antitrypsin deficiency is defective genes that are due to some mutations. This mutation leads to the shape of the Alpha-1 AA protein that renders the protein misshapen. Since the shape is distorted, the protein can not leave the liver and enter the blood system. A build-up of the protein in the liver and a deficiency of the same in the lungs are seen. Due to the build-up in the liver, the protein can cause damage to the cells of the liver and lead to scars being formed. The lack of protein in the bloodstream leads to the body tissues being left unprotected from irritants and the effects of the white blood cell attacks on the irritants. While it is a serious condition, people do not suffer from extreme damage unless both the parents have passed on this gene to the offspring.

What are the treatments for alpha-1 antitrypsin deficiency?

The alpha-1 antitrypsin deficiency has no long-term cure and since it is genetically passed down, the severity depends on the possession of both the set of faulty genes. Diagnosis is done via genetic tests and blood tests to know the severity of the disease. This helps with the prognosis and treatment planning. AAT replacement therapy or augmentation therapy is known to be most effective for alpha-1 antitrypsin deficiency. In this therapy, donated AAT protein is injected into the patient’s body to help compensate for the low levels of the said protein. In case of extremely severe conditions, a lung transplant is prescribed. Apart from that, treatment to keep the symptoms and conditions arising due to alpha-1 antitrypsin deficiency is also done. This includes treating asthma with inhalers and treating allergic reactions with oral steroid medications.

What are the risk factors for alpha-1 antitrypsin deficiency?

The alpha-1 antitrypsin deficiency primarily affects the liver and the lungs. These two vital organs suffer most of the damage caused by the faulty genes that lead to the production of misshaped alpha-1 antitrypsin or AAT. if treatment is not commenced and the condition is severe, it can lead to conditions like liver cancer, liver cirrhosis, and emphysema. Specific risk facts associated with alpha-1 antitrypsin deficiency are:

Damage to the cells of the lungs leads to bronchiectasis and even damages the air sacs.

Liver damage like cirrhosis can lead to multiple organ failures. Even with timely treatment, damage to other organs cannot be completely avoided. The person is also more susceptible to infections.

People suffering from alpha-1 antitrypsin deficiency can develop skin conditions like panniculitis wherein pus-filled lumps develop over the skin and often burst. This condition is very rare though.

Is there a cure/medications for alpha-1 antitrypsin deficiency?

There is no permanent cure for this genetic disorder. Medications are often prescribed to keep other conditions arising from alpha-1 antitrypsin deficiency in check. The most common medications used are related to oral inhalers and bronchodilators to help keep the lungs as clean as possible. Oxygen respirators are also kept handy in case breathing difficulty arises. People are told to avoid smoking and alcohol consumption to prevent the aggravation of the disease. Face masks are also suggested for people when they go out to work. This is done to prevent dust and other irritants from entering the body. Some people are also prescribed to get pneumonia vaccines to prevent the lungs from getting damaged even from common cold.

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