What is it?
Alpha-1 antitrypsin deficiency is an inherited disorder that can increase the risk of lung and liver diseases. It is characterized by a deficiency of alpha-1 antitrypsin (AAT), a protein produced in the liver to protect the lungs. When there is insufficient AAT production, the lungs become more susceptible to damage from environmental factors such as smoking, pollution, or dust, which can lead to the development of chronic obstructive pulmonary disease (COPD). In addition to lung disease, some individuals with alpha-1 antitrypsin deficiency may also experience liver disease.
What are its symptoms?
The symptoms of alpha-1 antitrypsin deficiency can vary, but they often include shortness of breath, wheezing, chronic cough with phlegm production, and decreased exercise tolerance. The severity of symptoms can range from mild to severe, and they can be similar to those of emphysema. It’s important to note that not all individuals with alpha-1 antitrypsin deficiency will develop symptoms, and the age of onset can vary.
What do I need to consider?
Alpha-1 antitrypsin deficiency is caused by mutations in the SERPINA1 gene, which provides instructions for producing alpha-1 antitrypsin. The condition is inherited in an autosomal co-dominant pattern, meaning that individuals with one affected gene and one normal gene (heterozygous) can still be at risk for developing symptoms. Those with two affected genes (homozygous) are at a higher risk.
Diagnosis of alpha-1 antitrypsin deficiency involves blood tests to measure AAT levels and genetic testing to identify specific mutations in the SERPINA1 gene. While there is no cure for the condition, treatment aims to manage symptoms and slow disease progression. This may include lifestyle modifications such as avoiding smoking and environmental triggers, as well as therapies to alleviate symptoms and support lung and liver health.
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References
- NHLBI, NIH. COPD – Alpha-1 Antitrypsin Deficiency. Enlace
- MedlinePlus Genetics. Alpha-1 antitrypsin deficiency. Enlace
- Cleveland Clinic. Alpha-1 Antitrypsin Deficiency: Causes, Symptoms & Treatment. Enlace
- National Institutes of Health (NIH). Alpha-1 antitrypsin deficiency – About the Disease. Enlace
- Alpha-1 Association. What is Alpha-1. Enlace