Should all family members undergo testing if one individual has been diagnosed with Alpha-1 antitrypsin deficiency?

Yes, it is highly recommended that close family members undergo testing if a family member is diagnosed with Alpha-1 antitrypsin deficiency (AATD). This disease is genetic, meaning it is passed down through genes within families. Early screening can help identify at-risk individuals, even if they are not yet showing symptoms, allowing for preventive measures and early disease management [1].

Why is screening family members important?

Alpha-1 antitrypsin deficiency is a genetic disorder caused by mutations in the SERPINA1 gene, which provides instructions for producing the alpha-1 antitrypsin protein. This protein is essential for protecting the lungs from inflammation and irritants. If a person inherits two mutated copies of the gene, they are affected by the disease and have an increased risk of developing lung disease or liver damage before the age of 45. If they inherit one mutated copy of the gene, they are considered a carrier and may have a slightly higher risk of developing lung disease, especially if they have other risk factors such as smoking [1].

Therefore, screening family members, particularly parents, siblings, and children, can identify individuals who have inherited the mutated genes. This early detection allows them to take proactive steps, such as avoiding smoking and exposure to pollutants, which can help delay or prevent lung damage [2].

Which family members should be tested?

First-degree relatives (parents, siblings, and children) of a person with Alpha-1 antitrypsin deficiency should consider undergoing testing. Testing is also recommended for individuals with a family history of unexplained lung or liver diseases that may be related to AATD [2]. In some cases, testing may be recommended for infants if they show signs of liver damage, such as jaundice or abnormal liver enzyme test results [1].

What types of tests are available?

Several types of tests are available to diagnose Alpha-1 antitrypsin deficiency:

• Blood test: This test measures the level of the alpha-1 antitrypsin protein in the blood. If the level is below normal, it is likely that the person has Alpha-1 antitrypsin deficiency [3].
• Genetic testing: Genetic testing is the most definitive way to diagnose Alpha-1 antitrypsin deficiency and should be performed to confirm blood test results. Genotyping looks for the most common types of genetic changes that can cause AATD. Phenotyping checks for changes in the alpha-1 antitrypsin protein that alter its normal function [1].

A genetic counselor can help understand the risks and interpret the results, especially if you are planning to have children and believe they are at risk for Alpha-1 antitrypsin deficiency [2].

Next steps after testing

If tests show that a family member has Alpha-1 antitrypsin deficiency or carries the mutated gene, it is important to consult a doctor to discuss the results and develop an appropriate care plan. This plan may include regular monitoring of lung and liver function, and avoiding risk factors such as smoking and environmental pollutants [2]. There is no cure for Alpha-1 antitrypsin deficiency, but there are treatments available to help manage symptoms and slow lung damage, such as augmentation therapy, which raises levels of the alpha-1 antitrypsin protein in the lungs [1].

For more information about this disease, you can visit Alpha-1 Antitrypsin Deficiency: A Genetic Disease Affecting the Lungs and Liver (Arabic).

Medical references

• Alpha-1 Antitrypsin Deficiency
• COPD Alpha-1 Antitrypsin Deficiency
• Alpha-1 antitrypsin blood test