Is Alpha 1-antitrypsin deficiency hereditary?
Alpha 1-antitrypsin deficiency (AATD) is indeed a hereditary condition. It is caused by mutations in the SERPINA1 gene, which provides instructions for making a protein called alpha-1 antitrypsin (AAT). AAT is primarily produced in the liver and plays a crucial role in protecting the lungs from damage caused by enzymes released by white blood cells.
How is AATD inherited?
AATD follows an autosomal codominant pattern of inheritance. This means that both copies of the SERPINA1 gene, one inherited from each parent, contribute to the condition. Individuals who inherit two abnormal copies of the gene (one from each parent) are at a higher risk of developing AATD and experiencing associated health problems.
What are the chances of inheriting AATD?
The likelihood of inheriting AATD depends on the genetic makeup of both parents. If both parents carry one abnormal copy of the SERPINA1 gene, there is a 25% chance with each pregnancy that their child will inherit two abnormal copies and develop AATD. There is a 50% chance that the child will inherit one abnormal copy and become a carrier of the condition, and a 25% chance that the child will inherit two normal copies of the gene.
What are the symptoms of AATD?
AATD can manifest in various ways, and the severity of symptoms can vary significantly among affected individuals. The most common symptom is the development of lung disease, such as chronic obstructive pulmonary disease (COPD), at an early age (typically between 20 and 50 years old). Symptoms of lung disease may include shortness of breath, wheezing, chronic cough, and recurrent respiratory infections.
In some cases, AATD can also lead to liver disease, particularly in infants and children. Liver disease associated with AATD may cause jaundice, swelling of the abdomen, and poor growth.
How is AATD diagnosed?
Diagnosing AATD involves a combination of clinical evaluation, family history assessment, and laboratory tests. A blood test called alpha-1 antitrypsin level measurement is commonly used to assess the levels of AAT in the blood. Genetic testing can also be performed to identify specific mutations in the SERPINA1 gene.
Can AATD be treated?
While there is no cure for AATD, various treatment options are available to manage the symptoms and slow down the progression of lung and liver diseases associated with the condition.
For lung disease, treatment may involve medications to relieve symptoms, such as bronchodilators and inhaled steroids. In some cases, lung transplantation may be considered for individuals with severe lung damage.
Liver disease associated with AATD may require specific interventions depending on the severity. In some cases, liver transplantation may be necessary.
Conclusion
Alpha 1-antitrypsin deficiency is a hereditary condition caused by mutations in the SERPINA1 gene. It follows an autosomal codominant pattern of inheritance, and the chances of inheriting the condition depend on the genetic makeup of both parents. AATD can lead to lung and liver diseases, with symptoms varying in severity among affected individuals. While there is no cure, various treatment options are available to manage the symptoms and slow down disease progression.