Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency is a rare inherited disorder affecting lungs and liver. It is caused by mutations in a specific gene, increasing the risk of developing chronic obstructive pulmonary disease (COPD) and liver disease.

Alpha-1 antitrypsin deficiency (AATD) is an autosomal recessive disorder, meaning that an individual must inherit defective SERPINA1 genes from both parents to develop the condition. The severity of the disease depends on the type of mutation and the level of functional AAT protein in the blood.

Risk factors include family history of AATD, smoking or exposure to environmental pollutants which can accelerate lung damage, and liver disease at a young age, including unexplained cirrhosis.

Symptoms of AATD can vary widely and may include:

Shortness of breath and wheezing
Chronic cough with phlegm production
Frequent lung infections
Unexplained liver disease, such as jaundice or cirrhosis
Fatigue and unintended weight loss.

Diagnosis involves:

Blood tests – measuring AAT levels and identifying genetic mutations
Pulmonary function tests – assessing lung function and detecting early signs of COPD
Liver function tests and imaging – evaluating liver health and detecting fibrosis or cirrhosis.

There is no cure for Alpha-1 antitrypsin deficiency, but treatment focuses on managing symptoms and preventing complications:

Augmentation therapy – intravenous infusions of AAT protein to slow lung damage in eligible patients
Pulmonary rehabilitation – exercise and breathing techniques to improve lung function
Lifestyle modifications – smoking cessation, avoiding environmental pollutants, and maintaining a healthy diet
Medications – bronchodilators, inhaled steroids, and oxygen therapy for lung disease
Liver transplantation – for individuals with severe liver disease, liver transplantation is the only life-saving treatment option.

At Karolinska University Hospital, our experienced team can provide comprehensive diagnosis, treatment, and rehabilitation.