Alpha-1 antitrypsin protects the lungs and liver from damage, know the symptoms and diagnosis of its deficiency.

Causes of AAT Deficiency

AAT is primarily a genetic disorder. When both parents have this problem, children may be born with this problem, due to which there is a deficiency of the protein in the body that protects the lungs. Sometimes there is some change in the genes in the body, which prevents the liver from making AAT or affects the size of the AAT protein, which is unable to come out of the liver at the time of need and starts getting accumulated in the liver. At the same time the liver gets damaged.

Symptoms and Identification

Symptoms of AAT deficiency depend on the age of the person and the advanced level of the disease. Initially it may cause cough, shortness of breath and frequent chest infections. Later on, it can cause serious lung problems like emphysema or COPD. Additionally, it can also cause liver problems such as jaundice, abdominal swelling, and liver cirrhosis.

Diagnosis and Testing

AAT deficiency can be diagnosed with a blood test that measures alpha-1 anti-trypsin levels in the body. Additionally, the doctor may also perform other tests to check lung and liver function. Genetic testing may also be done to determine whether a person has inherited the disorder.

treatment options

There is no permanent cure for AAT deficiency, but there are several ways to control its symptoms. Bronchodilators and inhaled steroids may be used to reduce lung problems. In severe cases, protein replacement therapy may also be administered, in which alpha-1 antitrypsin is provided from an external source. Liver transplant can also be an option for liver problems.

Lifestyle changes and precautions

It is very important for people with AAT deficiency to follow a healthy lifestyle. Smoking should be avoided, as it can make lung problems worse. The body’s immunity can be increased with regular exercise and proper diet. Apart from this, all the tests and treatments recommended by the doctor should be done from time to time so that the disease can be controlled.

Disclaimer:This article is for general information only. It cannot in any way be a substitute for any medicine or treatment. Always consult your doctor for more information.