Is alpha-1 antitrypsin deficiency a rare disease?

Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that affects the body's ability to produce enough alpha-1 antitrypsin protein, which is made in the liver and helps protect the lungs from damage. While considered a relatively rare disease, it can lead to serious lung and liver conditions if not diagnosed and treated early [1].

Although it can affect anyone of any race or ethnic background, it is most common among people of white Northern European descent. Many affected individuals are unaware that they carry this deficiency, which underscores the importance of awareness and screening, especially if there is a family history of the disease or associated lung and liver conditions [2].

What is alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin deficiency is an inherited disorder caused by changes in the SERPINA1 gene, which is responsible for producing the alpha-1 antitrypsin protein. Individuals inherit two copies of this gene, one from each parent [1]. If a person inherits two mutated copies of the gene, they will develop alpha-1 antitrypsin deficiency. If they inherit one mutated copy and one normal copy, they are a carrier; they may have lower levels of the protein in the blood but often do not develop the disease itself, though there is a slightly increased risk of lung disease, especially with other risk factors such as smoking [2].

Symptoms of alpha-1 antitrypsin deficiency

Some individuals with alpha-1 antitrypsin deficiency do not experience any symptoms. However, when symptoms do occur, they typically appear between the ages of 20 and 50 [1]. Common symptoms that may indicate lung damage include:

• Shortness of breath, especially after physical exertion.
• Wheezing.
• Chronic cough with mucus.
• Recurrent respiratory infections.
• Chest pain.
• Fatigue.

In some cases, alpha-1 antitrypsin deficiency may cause liver damage, especially in infants and children. Signs of liver damage include jaundice (yellowing of the skin and eyes) and leg swelling. Rarely, the disease can cause skin issues such as painful lumps or patches [2].

Diagnosis

A healthcare provider may suspect alpha-1 antitrypsin deficiency if you have relevant symptoms, a family history of the disease, or lung or liver conditions that might be linked to it [1]. Diagnosis typically involves:

• Blood test: This test measures the level of alpha-1 antitrypsin protein in the blood. If levels are lower than normal, a deficiency is likely [3].
• Genetic testing: This is the most definitive way to diagnose alpha-1 antitrypsin deficiency and is used to confirm blood test results and identify the specific genetic mutation [2].
• Lung function tests: These are performed to assess how well the lungs are working, especially if the lungs have been affected [1].

Prevention and Treatment

Because alpha-1 antitrypsin deficiency is a genetic condition, it cannot be prevented [2]. However, there are important steps that can be taken to help prevent or delay lung damage, such as quitting smoking and avoiding secondhand smoke and environmental pollution [1]. There is no cure for alpha-1 antitrypsin deficiency, but treatments are available to help manage symptoms and slow lung damage. Treatment options may include inhaled medications, pulmonary rehabilitation, oxygen therapy, and augmentation therapy, which increases the levels of the alpha-1 antitrypsin protein in the lungs [2]. In severe cases, a lung or liver transplant may be necessary [1]. For more information about this disease, you can visit Alpha-1 Antitrypsin Deficiency: A Genetic Disease Affecting the Lungs and Liver (Arabic).

When to seek emergency medical help

If you experience severe shortness of breath, acute chest pain, bluish lips or nails, or sudden confusion, these may be signs of an acute exacerbation of lung condition and require immediate emergency medical care.

Medical references

• Alpha-1 Antitrypsin Deficiency
• COPD Alpha-1 Antitrypsin Deficiency
• Alpha-1 antitrypsin blood test