AAT deficiency is a genetic disorder that can affect the liver, lungs, and/or COPD. It’s also known as an inherited condition. People with this condition often exhibit lung and liver diseases. However, some people don’t exhibit any symptoms. AAT deficiency is usually inherited from parents or grandparents. What tests can be done to determine if you have this disorder?
AATD is an inherited condition
Alpha-1 antitrypsin deficiency is a hereditary disorder characterized by low levels of the protective protein AAT. Low serum levels of AAT increase the risk of developing lung disease and liver disease. The disease is hereditary, with patients of Scandinavian descent being more likely to develop the condition. AAT is an essential protein that protects against the effects of neutrophil elastase, an enzyme that normally helps fight infection. However, it is the abnormally formed version of the protein that damages healthy lung tissue.
Diagnosis of AATD requires careful observation. AATD is usually detected through blood tests and physical examination. The doctor will feel for abnormalities in the body and may order blood tests to confirm the diagnosis. Tests can detect a person’s AATD by examining the bilirubin level in the blood. Bilirubin is a liquid produced by the liver that removes toxins from the body and breaks down fat in food. If the level of bilirubin is increased, then the patient has AATD. Other tests may include the ratio of certain proteins in the blood.
It causes liver disease
Alpha-1 antitrypsin deficiency is a genetic disorder that affects the lungs, skin, and liver. It is the most common genetic cause of liver disease in children. In addition to liver disease, Alpha-1 also causes lung problems, including emphysema and bronchiectasis. Despite the fact that it can lead to liver disease, many Alpha-1 patients never experience these associated diseases.
It causes lung disease
If you have AAT deficiency, you might notice that your lungs are not as healthy as they should be. This condition can lead to emphysema and chronic obstructive pulmonary disease. There is no known cure for this condition, but there are some lifestyle changes you can make to improve your health. AAT is important for healthy lungs, so you should get regular checkups and medical treatment if you notice a change in your breathing.
AAT deficiency causes progressive degeneration of the lungs. The symptoms of AAT deficiency-associated lung disease include a persistent cough and shortness of breath. Some people also develop emphysema or bronchiectasis without obvious causes. Patients may not need any medicines to treat the condition, but they may require treatment if symptoms are severe.
It causes COPD
People with AAT deficiency often develop breathing problems in later life. Some of these people develop chronic obstructive pulmonary disease, such as COPD. Other people experience chronic bronchitis. Fortunately, AAT deficiency is curable, though it is not an immediate cause of COPD. Symptoms of COPD may occur slowly over several years, but if the problem is not detected early, it can lead to more serious lung disease.
The first sign of AAT deficiency is asthma. Although some people with the condition may respond to asthma medicines, they may also experience other symptoms related to COPD, including coughing and shortness of breath. Liver damage may also be a sign of AAT deficiency. In some people, jaundice and swelling in the legs are common symptoms. Skin problems, including painful lumps, may also be a sign of AAT deficiency. Doctors may test for AAT deficiency if you have a family history of the condition.