AAT Deficiency

Alpha-1 antitrypsin deficiency (Alpha-1) is a genetic disorder that may cause lung and/or liver disease. It is the most common genetic cause of liver disease in children. Alpha-1 can impact adults, increasing the likelihood of developing lung diseases like emphysema and encountering liver problems. Fortunately, many people diagnosed with Alpha-1 never develop any related disease. Alpha-1 antitrypsin deficiency often leads to misdiagnoses of asthma in some individuals. About  15% of adults with Alpha-1 antitrypsin deficiency develop liver damage (cirrhosis) due to the formation of scar tissue in the liver

What are the symptoms of Alpha-1 antitrypsin deficiency?

In newborns, typical symptoms of Alpha-1 are jaundice, abdominal swelling, and poor feeding. In late childhood or adulthood, Alpha-1 may manifest with symptoms like fatigue, loss of appetite, abdominal and leg swelling, or abnormal liver tests.

Causes

Alpha-1 antitrypsin is a protein produced in the liver that plays an important role in preventing the breakdown of enzymes in various organs. People with Alpha-1 have a genetic disorder that prevents their bodies from producing enough of this protein. The trait is inherited from both parents (who are, by definition, carriers) to cause the disease.

Diagnosis?

Diagnosing Alpha-1 involves blood tests revealing low alpha-1 antitrypsin levels and abnormal liver tests. Further assessments, including ultrasound imaging or specialized X-ray tests, may be necessary. A liver biopsy might also be conducted to assess potential damage to the liver.

Who is at risk for Alpha-1 antitrypsin deficiency?

Worldwide, approximately 1 in 2,500 people have Alpha-1 antitrypsin deficiency. The disease is present in all racial groups. However, the condition is most common in white people of European ancestry.

Treatments

Currently, there is no cure for Alpha-1. The treatment focuses on preserving normal nutrition, supplying vital nutrients to the liver and body, and promptly identifying complications for effective intervention. Typically, a regimen includes a multivitamin supplemented with vitamins E, D, and K. Specific abnormalities, such as jaundice, severe itching, and fluid retention, can be effectively managed with appropriate medications.

Increasing the AAT protein in the blood, known as augmentation therapy, can potentially lessen the risk of lung damage. This therapy, also referred to as replacement therapy, involves supplying AAT protein through blood from a healthy donor. It might be necessary to undergo this therapy multiple times, especially in cases of emphysema. In this process, Alpha-1 enters the body through the vein. If you want, you can do this at home with the help of a professional. Currently, the goal of augmentation therapy is only to prevent damage to the lungs. It will not cure the disease or the damaged area. Apart from this, the doctor can also prescribe some medicines to open the airways.