Alpha-1 Antitrypsin Deficiency
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Overview
Alpha-1 Antitrypsin Deficiency (AATD) is a rare inherited genetic disorder that affects the production of alpha-1 antitrypsin (AAT), a protein made by the liver that protects the lungs and other organs from damage caused by enzymes. When AAT is deficient or defective, it can lead to serious liver and lung diseases.
In the liver, faulty AAT proteins can accumulate and cause inflammation and damage, leading to liver disease. AATD is an important, though often under-recognized, cause of chronic liver disease and cirrhosis in both children and adults.
What Causes Alpha-1 Antitrypsin Deficiency?
AATD is caused by mutations in the SERPINA1 gene that affect the production or function of alpha-1 antitrypsin. It is inherited in an autosomal codominant pattern, meaning a child inherits one gene from each parent. Some genetic variants produce little or no functional AAT protein, resulting in deficiency.
Who is at Risk for Alpha-1 Antitrypsin Deficiency?
- Individuals with a family history of AATD or unexplained liver or lung disease.
- Children and adults who develop chronic liver disease or cirrhosis without other clear causes.
- People with lung conditions such as emphysema at an unusually young age.
- Those with symptoms of unexplained liver inflammation, jaundice, or lung problems.
What Are the Symptoms of Alpha-1 Antitrypsin Deficiency?
Symptoms vary depending on the organs affected and severity:
Liver symptoms:
- Jaundice (yellowing of skin and eyes)
- Fatigue and weakness
- Poor growth and weight loss in children
- Abdominal swelling due to fluid buildup (ascites)
- Liver fibrosis or cirrhosis symptoms
Lung symptoms:
- Shortness of breath or wheezing
- Chronic cough
- Recurrent lung infections
Early-onset emphysema or chronic obstructive pulmonary disease (COPD)
How is Alpha-1 Antitrypsin Deficiency Diagnosed?
Diagnosis involves:
- Blood tests measuring the level and type of alpha-1 antitrypsin protein.
- Genetic testing to identify mutations in the SERPINA1 gene.
- Liver function tests and imaging studies to assess liver damage.
- Lung function tests if respiratory symptoms are present.
- Liver biopsy may be needed to evaluate liver damage extent.
How is Alpha-1 Antitrypsin Deficiency Treated?
While there is no cure for AATD, treatment focuses on managing symptoms and preventing complications:
Monitoring and managing liver disease progression. In advanced cases, liver transplantation may be necessary.
Avoid smoking, use inhalers or other medications for COPD or emphysema.
Used primarily for lung disease, to increase AAT levels in the blood.
Nutritional support and management of complications.
When is Liver Transplantation Needed for Alpha-1 Antitrypsin Deficiency?
Liver transplant may be required when liver damage progresses to end-stage liver disease or cirrhosis, impairing liver function severely. Transplantation can restore normal AAT production since the new liver produces functional protein, benefiting both liver and lung health.
How Can Liver Transplantation Portal Help You?
At Liver Transplantation Portal, we connect patients with AATD-related liver disease to expert hepatologists and transplant centers. Our platform offers personalized guidance from diagnosis through treatment and transplantation, ensuring access to the best possible care tailored to your unique health needs.
Why Choose Liver Transplantation Portal?
We are dedicated to supporting patients with rare liver conditions like Alpha-1 Antitrypsin Deficiency. With our network of top specialists and comprehensive resources, Liver Transplantation Portal provides compassionate, expert-led care to help you manage your condition and access life-saving liver transplant services when needed.
Contact us today to learn more about Alpha-1 Antitrypsin Deficiency and how we can assist you in your liver health journey.