α1-Antitrypsin deficiency

α1-Antitrypsin deficiency

α1-Antitrypsin deficiency is a genetic disorder that affects the liver and lungs. It is also known as AAT deficiency or alpha-1 antiproteinase deficiency. This condition is caused by mutations in the SERPINA1 gene, leading to a deficiency of the alpha-1 antitrypsin (AAT) protein.

The primary function of alpha-1 antitrypsin is to protect tissues in the body from enzymes produced by white blood cells. In the lungs, it helps prevent the breakdown of lung tissue by inhibiting an enzyme called neutrophil elastase. When there is a deficiency of alpha-1 antitrypsin, the elastase can cause damage to the lung tissue, leading to conditions such as chronic obstructive pulmonary disease (COPD), emphysema, and chronic bronchitis.

In the liver, alpha-1 antitrypsin is produced and released into the bloodstream. In individuals with AAT deficiency, the mutated protein can accumulate in the liver, leading to liver disease, cirrhosis, and, in some cases, liver failure.

Who does Alpha-1 affect?

Alpha-1 Antitrypsin Deficiency (AATD), is a genetic disorder that can affect the lungs and liver. It is caused by a deficiency of a protein called alpha-1 antitrypsin (AAT) in the blood. AAT is produced by the liver and plays a role in protecting the lungs from damage.

What are the symptoms of Alpha-1 antitrypsin deficiency?

The symptoms vary widely among individuals, and some people may not experience any symptoms at all. The most common manifestations of AAT deficiency include:

  1. Respiratory Symptoms:
    • Shortness of breath
    • Wheezing
    • Chronic cough
    • Reduced exercise tolerance
    • Recurrent respiratory infections
  2. Liver Symptoms:
    • Jaundice (yellowing of the skin and eyes)
    • Swelling of the abdomen (ascites)
    • Enlarged liver and spleen
  3. Other Symptoms:
    • Unintended weight loss
    • Fatigue
    • Rapid heartbeat

It’s important to note that AAT deficiency primarily affects the lungs and liver. Lung symptoms, such as chronic obstructive pulmonary disease (COPD), are more common than liver symptoms. The severity of symptoms can vary, and some individuals may remain asymptomatic for many years.

Causes of Alpha-1 antitrypsin deficiency?

  1. Genetic Inheritance:
    • AAT deficiency is inherited in an autosomal codominant manner, which means that you can inherit one abnormal gene (allele) from each parent (homozygous), or you can inherit one abnormal gene from one parent and a normal gene from the other (heterozygous). Individuals who inherit two abnormal alleles (PiZZ genotype) are at a higher risk of developing symptoms.
  2. Mutation in the SERPINA1 Gene:
    • The SERPINA1 gene provides instructions for making alpha-1 antitrypsin. Mutations in this gene can lead to the production of abnormal or insufficient amounts of the alpha-1 antitrypsin protein.
  3. Accumulation in the Liver:
    • The liver is responsible for producing alpha-1 antitrypsin, and a deficiency can result in the abnormal accumulation of the protein within liver cells. This can lead to liver disease, including cirrhosis.
  4. Insufficient Protection in the Lungs:
    • In the lungs, alpha-1 antitrypsin helps protect against the activity of enzymes like neutrophil elastase, which can break down lung tissue. A deficiency of alpha-1 antitrypsin allows these enzymes to cause damage, leading to conditions such as chronic obstructive pulmonary disease (COPD).
  5. Environmental Factors:
    • While the primary cause of AAT deficiency is genetic, environmental factors such as smoking can exacerbate the symptoms and increase the risk of developing lung disease in individuals with AAT deficiency.

Diagnosis and Tests:

Alpha-1 antitrypsin deficiency (AATD) is diagnosed through a combination of clinical evaluation, laboratory tests, and genetic testing. Here are the main steps involved in the diagnosis:

  1. Clinical Evaluation:
    • A healthcare professional will take a detailed medical history, including any family history of lung or liver disease.
    • They will ask about symptoms such as shortness of breath, chronic cough, or liver problems.
  2. Pulmonary Function Tests (PFTs):
    • Lung function tests, such as spirometry, may be conducted to assess how well the lungs are functioning.
    • These tests help evaluate the severity of respiratory impairment.
  3. Liver Function Tests:
    • Blood tests may be performed to assess liver function since AATD can lead to liver disease in addition to lung disease.
  4. Alpha-1 Antitrypsin Level Testing:
    • Blood tests are conducted to measure the levels of alpha-1 antitrypsin (AAT) in the blood.
    • Low levels of AAT are indicative of the deficiency.
  5. Genetic Testing:
    • Genetic testing is the definitive method for confirming the diagnosis of AATD.
    • This involves analyzing the SERPINA1 gene, which provides instructions for making alpha-1 antitrypsin. The specific genetic mutations associated with AATD can be identified through this testing.
  6. Imaging Studies:
    • Chest X-rays or CT scans may be performed to assess the extent of lung damage and to rule out other respiratory conditions.
  7. Liver Biopsy (if indicated):
    • In cases where there is suspicion of liver disease, a liver biopsy may be recommended to assess the extent of liver damage.
  8. Screening of Family Members:
    • Given the genetic nature of AATD, it is often recommended to screen family members of an affected individual to identify other cases in the family.

What can’t I eat/drink with Alpha-1?

  1. Avoid Smoking: Smoking is a major risk factor for lung disease in individuals with Alpha-1. If you have Alpha-1, it is crucial to avoid smoking and limit exposure to secondhand smoke.
  2. Limit Alcohol Consumption: Excessive alcohol consumption can contribute to liver damage. It’s advisable to limit alcohol intake or avoid it altogether, especially if you have liver complications associated with Alpha-1.
  3. Healthy Diet: Maintaining a balanced and healthy diet is important for overall well-being. While there are no specific dietary restrictions for Alpha-1, a diet rich in fruits, vegetables, whole grains, and lean proteins can support your overall health.
  4. Stay Hydrated: Drinking an adequate amount of water is essential for general health, including lung and liver function. Proper hydration helps the body function optimally.
  5. Regular Exercise: Engaging in regular physical activity can be beneficial for lung function and overall health. Consult with your healthcare provider to determine the most suitable exercise regimen for your circumstances.

It’s essential to work closely with your healthcare team, including a pulmonologist and hepatologist, to develop a personalized management plan for Alpha-1 antitrypsin deficiency. They can guide lifestyle choices, medications, and other interventions tailored to your specific needs.


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One thought on “α1-Antitrypsin deficiency”
  1. […] Genetic screening is a medical process used to assess an individual’s genetic makeup for specific mutations, alterations, or variations in their DNA. It involves analyzing a person’s genetic material, usually through a blood sample or saliva, to identify any potential genetic predispositions to certain diseases, disorders, or conditions. […]

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