Introduction:
Alpha-1 antitrypsin deficiency (AATD) is a genetic condition. AATD can damage the lungs and liver. The symptoms include shortness of breath, chronic cough, and wheezing. AATD may lead to emphysema, chronic obstructive pulmonary disorder (COPD), and liver disease. AATD is caused due to low levels of alpha-1 antitrypsin (AAT) proteins or dysfunction of AAT. Treatment of AATD is done to manage symptoms, prevent disease progression, and replace the deficient AAT levels.
What Does the Treatment of AATD Mean?
AATD is a genetic disorder that may cause damage to vital organs, such as the lungs and liver. As you know, genetic disorders cannot be cured, but the symptoms of the disease need to be managed.
Treating AATD helps to
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Manage the symptoms.
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Slow the disease progression.
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Improves the quality of life of an affected individual.
How AAT Deficiency Is Treated?
AATD can be treated by replacing the AAT proteins. These can be given through veins. If AATD is diagnosed before the onset of pulmonary symptoms, the affected individuals generally have better outcomes when compared to those who have already had respiratory illness.
The treatment plan depends on the test’s reports and the severity of the symptoms.
Treatment options include:
Augmentation Therapy for Lung Disease: In this therapy, replacement of AAT is done for missing or deficient AAT. AAT proteins are important for the protection of the lungs. This therapy is done every week by infusing intravenous purified AATs taken from human plasma.
This therapy is indicated for those with AATD-related emphysema and low AAT levels. Augmentation therapy cannot reverse lung damage but can slow down the disease's progress. This therapy is not useful in the case of liver disease.
This therapy is not effective in liver disease. Many studies have found that augmentation therapy can help preserve lung function and help reduce the number and severity of lung infections. It is considered to be one of the best medications for AATD.
As we know, there is no cure for AATD, but the lung disease it causes can be treated. The initial treatment is similar to that of emphysema and COPD (chronic obstructive pulmonary disease).
These include:
- Bronchodilators: These help in making your breathing easy. Bronchodilators relax the muscles surrounding your airways. There are two types of bronchodilators. One is short-acting, and the other is long-acting. Short-acting bronchodilators help and last for four to six hours. The long-acting bronchodilators last for 12 hours or more.
- Inhaled Corticosteroid Medications: These medications help reduce inflammation of the airways. This makes it easier to breathe. These medications may exhibit side effects such as bruising, oral infections, and hoarseness.
- Antibiotics: Antibiotics should be given for bronchitis and COPD exacerbation.
- Vaccines: Flu and pneumococcal vaccinations are to be given to prevent their infections. Flu vaccination is to be given every year. A pneumococcal vaccine is to be given at three years.
- Oxygen Therapy: In the case of severe lung disease, oxygen therapy is to be given. This therapy helps to improve the following:
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- The capacity to exercise.
- Mental performance.
- Decreases breathing problems.
- Sleep quality.
Pulmonary Rehabilitation: Breathing efficiency can be increased with exercises and education programs. Pulmonary rehabilitation includes combined programs like
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Education.
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Exercise conditioning.
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Breathing training.
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Chest physiotherapy.
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Respiratory muscle training.
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Nutritional counseling.
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Psychological support.
Liver Disease Management:
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In this condition, regular liver function tests are to be conducted to check the progression.
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Avoiding alcohol and hepatotoxic drugs can reduce the risk of stress on the liver.
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In the case of end-stage liver disease due to AATD, liver transplantation can be opted for treatment.
Advanced treatment for AATD includes:
Lung Transplantation: This option is done when other treatment options fail to treat AATD. This helps achieve improvement in lung function and quality of life. Other surgeries done include:
Lung volume reduction surgery and bullectomy. Other procedures like valve and coil placement into segmental bronchi. These procedures help in shrinking the emphysematous areas and also improve the other functions of the affected areas of the lungs.
Lifestyle Changes:
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Smoking: Cessation of smoking habit to be done as it may cause severe lung damage.
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Chemicals: The exposure to certain chemicals such as smoke, dust, chemicals, and pollution to be done.
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Diet: A healthy diet helps maintain liver function and overall health.
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Exercises: Regular exercises help maintain lung capacity and physical fitness.
Gene therapy is under study to tackle AATD conditions. Follow-up with specialists and periodic testing is necessary for effective treatment. New research in alpha1 antitrypsin deficiency (AATD) aims at new alternative treatments beyond augmentation therapy like gene therapy, chemical chaperones, and improved delivery methods.
Guidelines for Treatment of AATD:
Intravenous (IV) augmentation therapy is recommended by the Alpha 1 Foundation guidelines for patients with necrotizing panniculitis, or with forced expiratory volume in one second (FEV1)≤ 65 percent predicted.
IV augmentation therapy is not recommended among:
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Individuals with MZ genotype.
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Individuals who persist in smoking.
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Individuals with emphysema and bronchiectasis who do not have airflow obstruction.
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Those with treatment of liver disease.
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Individuals who have undergone a liver transplant.
Conclusion:
AATD is a genetic disorder and does not have a cure. Detecting it early and with appropriate treatment options can help achieve a good quality of life and slow the disease's progression. Treatment options are chosen based on the severity of the condition.
Key Takeaways from iCliniq
AATD is a genetic disorder that cannot be avoided. It can be managed well if identified early. Treatment options should be carefully selected for the maximum benefits.
