Alpha-1 Antitrypsin Deficiency

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Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver usually makes the protein, and releases it into the bloodstream. Because of a gene problem, some people have little or none of it. Not having enough AAT puts you at risk of emphysema or liver problems. If you smoke, you increase your risk. Children with AAT deficiency can develop liver problems that last their whole lives. AAT deficiency can be treated but not cured. One treatment involves adding to or replacing the missing protein. A lung transplant may be an option if you are seriously ill. Staying away from cigarette smoke is crucial. A blood test can tell if you have the deficiency. If you have it, your family members should also take the blood test.

Symptoms:

Laboratory Test Procedures:

shortness of breath
easily becoming short of breath during exercise or activity
wheezing or coughing after exercise
weight loss
increased number and severity of infections
recurring respiratory infections
fatigue
fast heartbeat
blurred vision
difficulty breathing
coughing
barrel-shaped chest
abdomen swelling
feet swelling
jaundice

Direct Bilirubin
Alpha1-globulin
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All information on this page is intended for your general knowledge only and does not provide medical advice, diagnosis or treatment. See Additional Information