Alpha-1 Antitrypsin Deficiency

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Alpha-1 Antitrypsin Deficiency (AATD) is an inherited condition that can cause lung disease in adults and liver disease in both children and adults. It is one of the most common genetic disorders, affecting approximately 1 in 2,500 individuals of European descent.

Alpha-1 antitrypsin is a protein produced primarily in the liver that protects the lungs from damage caused by neutrophil elastase, an enzyme released by white blood cells during the normal immune response. Without adequate levels of this protective protein, the lungs become vulnerable to progressive damage, particularly from environmental factors like cigarette smoke.

Individuals with AATD may develop emphysema or chronic obstructive pulmonary disease (COPD) at a younger age than typical, often in their 30s or 40s, especially if they smoke. Liver complications can include jaundice in newborns, liver cirrhosis, and an increased risk of liver cancer.

The condition is inherited in a codominant pattern, meaning both copies of the gene contribute to the amount of alpha-1 antitrypsin produced. The most common disease-causing variants are the Z and S alleles. Early detection allows for lifestyle modifications and treatment options including augmentation therapy.

NutraHacker examines the following gene related to Alpha-1 Antitrypsin Deficiency:

SERPINA1

For more information about your own genetic profile as related to Alpha-1 Antitrypsin Deficiency, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.