Alpha-1-antitrypsin (AAT) is a protein produced in the liver that protects the lungs against pollutants, fumes, and smoke.
Alpha-1-antitrypsin (AAT) is a protein produced in the liver, which protects the lungs against pollutants, fumes, and smoke. If you suffer from an AAT deficiency or have abnormal proteins, you have an increased risk of lung disease and liver disease.
AAT deficiency is a genetic condition that runs in families. You may develop the condition if you have a genetic mutation of the AAT gene. This genetic mutation is transferred to you from your parents.
What are the signs and symptoms of alpha-1-antitrypsin deficiency?
Some people with alpha-1-antitrypsin (AAT) deficiency have mild symptoms, while some have severe symptoms. If you have a deficiency, you may not develop any symptoms until you are an adult. The symptoms begin to show most commonly when people are aged between 20 and 50 years.
Symptoms of AAT may include the following:
- Shortness of breath, especially during exercise (often the first sign)
- Wheezing
- Chronic cough (cough that does not go away easily and persists for long)
- Fatigue
- Recurrent lung infections
- Weight loss
Because the initial symptoms resemble asthma, many people are diagnosed with asthma and respond well to medications.
Some people with AAT deficiency may also develop liver damage, whose signs include:
- Jaundice (yellowish skin or eyes)
- Swelling in the legs
- Coughing up blood
Rarely, AAT deficiency can cause panniculitis, a skin condition characterized by hardening of the skin with painful lumps or patches.
What are the complications of alpha-1-antitrypsin deficiency?
Complications of alpha-1-antitrypsin deficiency are related to the lungs and liver, and may include the following:
- Asthma
- Bronchiectasis
- Cirrhosis (a type of liver disease characterized by scarring of the lung)
- Chronic obstructive pulmonary disease
- Respiratory failure
How is alpha-1-antitrypsin deficiency diagnosed?
The doctor will ask about potential risk factors, including your lifestyle habits and surroundings. These questions include whether you smoke or regularly work around dust. They will also ask you about your family history and what signs and symptoms are present. Your doctor will check your airways using a stethoscope.
To confirm whether you have alpha-1-antitrypsin (AAT) deficiency, the doctor may order a few tests, such as:
- A blood test to check the level of AAT protein level in the blood
- A genetic test that looks for the mutation in the AAT gene
- Pulmonary (lung) function tests (a test that lets the doctor know how well you can breathe in and out to understand how well your lungs are working)
- Chest computed tomography scan
How is alpha-1-antitrypsin deficiency treated?
Currently, there is no cure for alpha-1-antitrypsin (AAT) deficiency. However, some treatments can help prevent further lung damage and avoid complications.
If you suffer from the condition, you will likely be treated by a group of experts, which include:
- The primary physician
- Pulmonologist (lung specialist)
- Gastroenterologist (gastrointestinal specialist)
- Geneticist (specialist in genetic conditions)
- Hepatologist (specialist in liver diseases)
- Dermatologist (skin specialist)
Augmentation therapy
Augmentation therapy involves getting a supply of the AAT protein from blood donors intravenously. This is administered for life one time a week, and the treatment raises the levels of the AAT protein in the lungs.
If you develop moderate to severe breathing problems, you may also need the following treatments:
- Bronchodilators and inhaled steroids. Given in the form of inhalers, these medications help open the airways and ease breathing.
- Oxygen therapy. Required if you develop low blood oxygen levels.
- Pulmonary rehabilitation. A team of experts will teach you techniques that help you function well and live with your damaged lung.
- A lung transplant. This is usually the last option when the lung damage is severe.