A1AT DEFICIENCY

SYMPTOMS

A1AT deficiency may have the following symptoms:

• Shortness of breath
• Wheezing
• Cough
• Recurring colds
• Less exercise endurance
• Allergies
• Bronchiectasis or lung collapse

DIAGNOSIS

Your specialist may ask the following questions to diagnose your condition:

• Do you feel shortness of breath?
• Have you been getting a lot of colds or lung diseases?
• Have you lost weight?
• Did you notice any yellowing of your skin or eyes?

Your doctor will likewise listen to your breathing with a stethoscope to check for wheezing or different signs that your lungs aren’t working right.

You have to get blood tests to affirm your diagnosis. These tests verify whether you have the abnormal genes that cause A1AT deficiency. They additionally will measure how much protein you have in your blood. Your doctor will also order tests that relate to your lungs and liver to perceive how much harm the condition has caused. For instance, a chest X-ray can show emphysema.

TREATMENT

Though there’s no remedy for AAT deficiency, you can raise the amount of AAT protein in your blood, which secures you against more lung damage. Doctors refer to this as augmentation treatment. You may have this treatment if you have emphysema.

You may require some medicines long-term. You may be given medicines that you will inhale, known as bronchodilators. You may also be placed on oxygen treatment. Vitamin supplements can protect you from lung and liver disease. Avoid smoking and wash hands all the time to prevent colds and flu.

Children with AAT deficiency may require special milk formula or additional nutrients. It’s important for them to have regular checkups to monitor how well their lungs and liver are working.