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 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.

Video related to alpha-1 antitrypsin deficiency