Internal Medicine
Alpha 1 antitrypsin deficiency is a genetic disorder passing from parents to children caused by mutations in the genes. Mutations are changes in the normal genetic constitution that results in the production of abnormal products that do not function normally, causing diseases. In a normal person, upon exposure to an irritant or infective agent, an inflammatory reaction occurs that is kept in balance with the AAT protein, the absence of which results in extra damage to the lung tissue (alveoli). In some people, the protein is produced by the liver but is not transported to the lungs and builds up in the liver causing liver diseases like hepatitis, jaundice, cirrhosis, and liver cancer.
The disorder affects 1 per 3000-5000 people in the USA. It is more common in white people and affects males and females equally. Lung problems start to appear between the ages of 20 and 50 years. Liver problems may arise early, and their risk increase with age.
Your risk of getting the disease is increased due to the following factors;
Some people may not develop any disease and may not show any symptoms. Some people may show symptoms similar to chronic obstructive pulmonary disease (COPD), including emphysema. While in others, symptoms related to the liver or the skin may appear. They include;
Symptoms related to lungs:
Liver symptoms:
Skin
Rarely, do some people develop painful red lumps in the skin, known as panniculitis.
Many people with the disorder are often misdiagnosed with COPD or asthma due to common symptoms. When patients do not respond to regular treatment, then the following tests are ordered to make the diagnosis;
Blood test: You will be asked to submit a sample of your blood to check for the presence of the AAT enzyme, its levels, and its types.
Imaging tests: X-rays and high-resolution CT scans of the lungs are often ordered to visualize the damaged areas of the lungs and the severity of the disease.
Genetic tests: This test can be performed on your blood to check for the abnormal genes causing the disease.
Liver biopsy: A sample of your liver may be taken to check for fibrosis of the liver.
The symptoms often resemble some other disorders like;
If you experience the symptoms of AAT deficiency, you should consult your healthcare provider. Your doctor will guide you regarding diagnosis and further treatment.
The goals of treatment are to slow down the progression of the disease and provide medical care and support by the following;
The outcome of the disease depends upon the presence of symptoms and the severity of the disease. Some people may not have severe illnesses and have a normal life span. Some people may show serious symptoms and develop complications like emphysema, bronchiectasis, and liver cirrhosis. By following a proper regimen and smoking cessation, the outcome is improved.
By following a healthy lifestyle, you can cope with the illness;
Our clinical experts continually monitor the health and medical content posted on CURA4U, and we update our blogs and articles when new information becomes available. Last reviewed by Dr.Saad Zia on May 11, 2023.
https://www.sciencedirect.com/science/article/pii/S0168827821022273
Alpha-1 antitrypsin deficiency is a rare inherited disorder characterized by the deficiency, reduced levels, or deficient transport of the Alpha-1 antitrypsin enzyme(AAT). It is a protein made by the liver and protects the lungs from the detrimental effects of irritants and infectious agents. The absence of this protective protein predisposes a person to develop lung disease manifested by the symptoms of shortness of breath, wheezing, cough, etc. The liver also gets affected by the build-up of proteins which may cause jaundice and scarring of the liver.
It is diagnosed by measuring the levels of AAT protein in the blood. Treatment for lung disease involves cessation of smoking, vaccinations against common lung infections, bronchodilators, intravenous alpha1-antitrypsin, supplemental oxygen if needed, and physical rehabilitation programs.