Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency is a genetic disorder that affects the lungs and liver. It is caused by a mutation in the SERPINA1 gene, which provides instructions for making a protein called alpha-1 antitrypsin (AAT). This protein helps protect the lungs from damage caused by an enzyme called neutrophil elastase.

Causes and Risk Factors

The deficiency is inherited in an autosomal codominant pattern, meaning that a person can inherit one or two copies of the mutated gene. Those who inherit two copies (one from each parent) are at higher risk of developing severe symptoms. The condition is more common in people of European descent, particularly those from Scandinavia and Ireland.

Symptoms

The symptoms of alpha-1 antitrypsin deficiency can vary depending on the severity of the condition and the organs affected. Common symptoms include:

• Shortness of breath (dyspnea)
• Wheezing
• Coughing up blood or yellow or green mucus
• Fatigue
• Weight loss
• Swelling in the legs, feet, or ankles (edema)
• Yellowing of the skin and eyes (jaundice)

Diagnosis

Diagnosis is typically made through a combination of:

• Blood tests to measure AAT levels and detect genetic mutations
• Pulmonary function tests (PFTs) to assess lung function
• Chest X-rays or computed tomography (CT) scans to evaluate lung damage
• Liver function tests to assess liver health

Treatment and Management

Treatment for alpha-1 antitrypsin deficiency focuses on managing symptoms, slowing disease progression, and preventing complications. This may include:

• Augmentation therapy with AAT infusions to increase protein levels
• Oxygen therapy to help improve breathing
• Medications to manage respiratory symptoms, such as bronchodilators and corticosteroids
• Liver transplantation in severe cases of liver disease
• Lung transplantation in advanced cases of lung disease

Prognosis and Complications

The prognosis for alpha-1 antitrypsin deficiency varies depending on the severity of the condition and the effectiveness of treatment. Potential complications include:

• Chronic obstructive pulmonary disease (COPD)
• Liver cirrhosis or liver cancer
• Pneumonia or other respiratory infections
• Malnutrition and weight loss

Early diagnosis and treatment can help improve quality of life and reduce the risk of complications.