Alpha-1 Antitrypsin Deficiency

Overview

Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that can harm the lungs and liver. It happens when the body doesn’t make enough of a special protein that helps keep these organs healthy. This protein is called alpha-1 antitrypsin. Without enough of this protein, people with AATD may develop serious lung problems, such as difficulty breathing or chronic coughing, or liver problems that can cause scarring and damage. AATD is a relatively rare condition. According to the World health Organization AATD affects about 1 in 2,500 to 1 in 5,000 people worldwide. AATD can affect people of all ages, including children. However, the symptoms may not appear until later in life, often in adulthood.

Symptoms

Symptoms of AATD can vary and may include:

  • Shortness of breath, especially during physical activity 
  • Wheezing 
  • Chronic cough 
  • Recurring lung infections 
  • Fatigue 
  • Unintended weight loss 
  • Jaundice (yellowing of the skin and eyes) 
  • Swelling in the abdomen or legs

Causes

Alpha-1 Antitrypsin Deficiency (AATD) is caused by a mistake in a specific gene that is passed down from parents. This mistake can affect how much of a special protein, called alpha-1 antitrypsin, is made in the body. There are different types of AATD, ranging from mild to severe. The most severe type is called PIZZ, which means the body makes very little of the protein. Other types, like PISZ, PISS, and PIMZ, are less severe and may not cause any symptoms at all.

Diagnosis

Diagnosing AATD involves several steps:

  • Take a medical history and physical exam: The doctor will ask about symptoms and check the child’s overall health.
  • Conduct blood tests: To measure alpha-1 antitrypsin levels and check for signs of the condition.
  • Perform genetic testing: To identify the specific gene mutation that is causing AATD.
  • Assess lung function: With tests to evaluate breathing capacity and check for any lung problems.
  • Imaging tests: like a chest X-ray or CT scan, to check for lung damage

Treatment Options

While there’s no cure for AATD, various treatments can manage symptoms and slow disease progression. At Gertrude’s Children’s Hospital, we offer:

  • Augmentation therapy: Intravenous infusions to raise alpha-1 antitrypsin levels 
  • Pulmonary rehabilitation: Exercise, education, and support to improve lung function and quality of life • Medications: Bronchodilators, inhaled steroids, and other medicines to manage symptoms 
  • Lung transplantation: For severe cases, when other treatments aren’t effective 
  • Liver transplantation: In rare cases, for advanced liver disease

Patient Success Stories

At Gertrude’s Children’s Hospital, we are committed to providing the best possible care for children with Alpha-1 Antitrypsin Deficiency. Here’s why families trust us:

“Our daughter was diagnosed with AATD at a young age, and we were worried about her future. The team at Gertrude's Children's Hospital has been incredible, providing expert care and support every step of the way. Thanks to them, our daughter is thriving and living a full, active life.”

Davidfather of a child with AATD

Alpha-1 Antitrypsin Deficiency

AATD is inherited in an autosomal codominant pattern, meaning a child inherits one copy of the gene from each parent.

There's no cure for AATD, but various treatments can manage symptoms and slow disease progression.

Contact Us

If you suspect your child may have AATD, or if you have a family history of the condition, please schedule an appointment with our specialist team. Early diagnosis and treatment can significantly improve outcomes.

Contact us today to learn more about our Alpha-1 Antitrypsin Deficiency treatment options.

Book Appointment