How rare is an alpha-1 antitrypsin deficiency?
This disease only reportedly affects roughly 0.03% – 0.06% of individuals.
Is there a cure for alpha-1 antitrypsin deficiency?
Currently, there is no known cure for this rare disorder, but there are treatment options for those with related lung diseases.
What are the common symptoms?
- Shortness of breath, wheezing, or chronic cough
- Fatigue and reduced exercise tolerance
- Recurrent respiratory infections
- Jaundice, liver enlargement, or abnormal liver function tests (for liver involvement)
- Other Potential Symptoms may include
- Panniculitis: A rare skin condition causing painful, red, hard lumps
- Vision problems
- Rapid heart rate
How is Alpha-1 Antitrypsin Deficiency (AATD) diagnosed?
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Diagnosis typically involves:
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Blood test for AAT protein level
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Genetic testing for SERPINA1 gene variants
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Lung function tests (spirometry)
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Liver function tests if liver involvement suspected
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How is it treated?
Though there is no cure, treatment depends on symptoms and organ involvement:
Lung management:
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Avoid smoking and lung irritants
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Vaccinations (flu, pneumonia)
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Bronchodilators or inhaled medications for airflow obstruction
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Augmentation therapy (intravenous purified AAT) for severe lung disease
Liver management:
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Regular monitoring of liver function
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Lifestyle modifications to reduce liver stress
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In severe cases, liver transplant may be needed
