Alpha-1

Alpha-1 Antitrypsin Deficiency (also known as Alpha-1 or AATD) is a genetic disorder that can cause lung disease and liver disease. The condition is caused by a deficiency of the protein alpha-1 antitrypsin, which is produced in the liver and functions to protect the lungs from damage.

Causes

Alpha-1 Antitrypsin Deficiency is caused by mutations in the SERPINA1 gene. This gene provides instructions for producing the alpha-1 antitrypsin protein. Mutations in the SERPINA1 gene can lead to a shortage (deficiency) of this protein or produce a protein that is abnormal and cannot function properly.

Symptoms

The symptoms of Alpha-1 Antitrypsin Deficiency can vary widely among individuals. Some people may have no symptoms, while others may develop serious lung disease or liver disease. Symptoms can include shortness of breath, wheezing, recurring respiratory infections, fatigue, rapid heartbeat upon standing, vision abnormalities, and weight loss.

Diagnosis

Diagnosis of Alpha-1 Antitrypsin Deficiency can be confirmed through blood tests, genetic testing, and lung function tests. It is often diagnosed through the process of ruling out other conditions.

Treatment

There is currently no cure for Alpha-1 Antitrypsin Deficiency, but treatments can help to manage symptoms and slow the progression of the disease. Treatments can include medications, pulmonary rehabilitation, oxygen therapy, and in severe cases, lung transplantation.

See also

• Genetic disorder
• Lung disease
• Liver disease
• SERPINA1

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