Alpha 1-Antitrypsin Deficiency

What is Alpha 1-Antitrypsin Deficiency?

Alpha 1-antitrypsin deficiency (AAT) is an inherited autosomal codominant disorder of metabolism caused by the deficiency of an enzyme called alpha 1-antitrypsin (AAT). This enzyme acts as a proteinase inhibitor and usually protects our lungs from degradation. AAT deficiency can cause serious lung and liver problems such as emphysema and liver cirrhosis.

Symptoms of Alpha 1-Antitrypsin Deficiency

The symptoms of AAT deficiency typically appear during adulthood, usually between the ages of 20 and 50. Common symptoms include difficulty breathing, frequent coughing, pedal edema (swelling of the feet and ankles), wheezing, fatigue, and nasal congestion. Other symptoms related to liver disease may occur including jaundice, right upper abdominal pain, and nausea.

Diagnosis of Alpha 1-Antitrypsin Deficiency

The diagnosis of AAT deficiency is made using a combination of clinical criteria and laboratory evaluations. AAT levels can be measured with a blood test, and genetic testing can be done to determine the severity of the deficiency. Standard pulmonary function tests can also be used to assess the extent of airway obstruction.

Management of Alpha 1-Antitrypsin Deficiency

Treatment for AAT deficiency typically involves the use of medications to reduce the inflammation of the lungs and to alleviate symptoms. These may include bronchodilators, inhaled corticosteroids, and antibiotics. In addition, supplemental oxygen may be necessary to provide adequate tissue oxygenation. Regular monitoring of lung function and close adherence to appropriate lifestyle measures are also important.

Complications of Alpha 1-Antitrypsin Deficiency

The most serious complication of AAT deficiency is emphysema, which can be debilitating and may lead to respiratory failure. Other potential complications include cirrhosis of the liver, increased susceptibility to other respiratory infections, and various lung infections.

Prevention of Alpha 1-Antitrypsin Deficiency

AAT deficiency is an inherited disorder, and therefore, there is no way to prevent the condition itself. However, genetic counseling and screening can be useful for individuals who may have a family history of the disorder. Identifying and avoiding environmental risk factors, such as smoking and exposure to air pollution, may also be beneficial.