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Alpha-1 antitrypsin deficiency (AATD) is a genetic disease that can cause lung and liver disease. It occurs as a result of the body’s insufficient production of a protein called alpha-1 antitrypsin (AAT), which plays an important role in protecting the lungs from damage caused by enzymes released by the immune system. In this article, we will investigate the causes, symptoms, diagnosis and treatments of Alpha-1 Antitrypsin Deficiency.
Table of Contents
Causes of Alpha-1 Antitrypsin Deficiency Deficiency:
AATD is usually caused by genetic mutation. Individuals inherit one or two mutations of the SERPINA1 gene from their parents, causing AAT production to be reduced or inactive. Smoking and exposure to environmental pollution may increase the risk of AATD and increase the risk of developing pneumonia.
Symptoms of Alpha-1 Antitrypsin Deficiency:
1. Respiratory symptoms: shortness of breath, wheezing, chronic cough and recurrent respiratory infections.
2. Liver symptoms: AATD can also affect the liver, causing liver disease and, in severe cases, cirrhosis.
Diagnosis:
Diagnosis of AATD requires a combination of history, physical examination and laboratory tests. Blood tests can determine AAT levels and activity, and genetic tests can confirm abnormalities in the SERPINA1 gene.
Treatment Plan:
1. Boost Therapy: Intravenous infusion of purified AAT, called boost therapy, is a common treatment. The aim is to increase the level of AAT in the blood and slow down inflammation.
2. Bronchodilators: Medicines that help open the airways can reduce symptoms of airway obstruction.
3. Lung Rehabilitation: Physical education, breathing and training can improve overall lung health and quality of life.
4. Liver transplantation: Liver transplantation may be considered in advanced liver disease.
Conclusion:
Alpha-1 antitrypsin deficiency is a genetic disease that requires medical treatment. Early diagnosis and appropriate treatment can improve the quality of life of individuals affected by this disease. If you think you may have AATD or have a family history of the disease, consult a doctor for proper evaluation and guidance.
Is alpha-1 antitrypsin deficiency a disease?
AATD is considered rare, but its incidence varies from person to person. It is more common in people of European descent.
How often should AATD patients seek medical attention?
Regular check-ups with your doctor, including lung and liver function tests, are important to monitor the progression of AATD and manage related complications.
What lifestyle changes can help manage Alpha-1 Antitrypsin Deficiency?
Avoiding smoking and reducing exposure to environmental pollution can help control this condition. Regular exercise and a healthy lifestyle are also beneficial.
Is AATD just pneumonia?
No, AATD can affect the liver and cause pain. The severity and presentation of symptoms vary from person to person.
