How do I know if I have Alpha 1-antitrypsin deficiency?

Alpha 1-antitrypsin deficiency is a genetic disorder that affects the production of a protein called alpha 1-antitrypsin (AAT) in the liver. This protein plays a crucial role in protecting the lungs from damage caused by enzymes released by white blood cells. When there is a deficiency of AAT, these enzymes can attack and damage lung tissue, leading to various respiratory problems.

So, how can you know if you have Alpha 1-antitrypsin deficiency?

1. Family History: A significant indicator of Alpha 1-antitrypsin deficiency is a family history of the condition. If any close relatives, such as parents or siblings, have been diagnosed with the deficiency, there is a higher likelihood of inheriting it.

2. Respiratory Symptoms: Individuals with Alpha 1-antitrypsin deficiency may experience respiratory symptoms, such as:

• Shortness of breath


• Wheezing


• Chronic cough


• Frequent respiratory infections


• Rapid breathing


• Reduced ability to exercise

3. Liver Problems: In some cases, Alpha 1-antitrypsin deficiency can also lead to liver problems, including:

• Jaundice (yellowing of the skin and eyes)


• Swollen abdomen


• Enlarged liver


• Itchy skin


• Dark urine

4. Testing: To confirm a diagnosis of Alpha 1-antitrypsin deficiency, specific tests are conducted:

• Blood Test: A blood sample is taken to measure the levels of AAT in your blood. Low levels of AAT may indicate a deficiency.


• Genetic Testing: Genetic testing can identify specific mutations in the SERPINA1 gene, which is responsible for producing AAT. This test can confirm the presence of Alpha 1-antitrypsin deficiency and determine its severity.


• Lung Function Tests: These tests measure how well your lungs are functioning and can help assess the extent of lung damage caused by the deficiency.


• Liver Function Tests: If liver problems are suspected, liver function tests can evaluate how well your liver is working.

If you suspect you may have Alpha 1-antitrypsin deficiency or have a family history of the condition, it is important to consult with a healthcare professional. They can evaluate your symptoms, conduct the necessary tests, and provide appropriate guidance and treatment options.