Who Should be tested?

It is generally accepted that the following group of people should be test for AATD.

·         All patients with frequently recurrent infections
·         All patients with COPD (chronic obstructive pulmonary disease)
·         All children, adolescents and adults with asthma
·         Newborn, children and adults with liver disease of unknown origin
·         All individuals in whose family alpha-1 antitrypsin deficiency has occurred

Since you have been diagnosed as having the genetic condition then it is very important that your close blood-relations are also tested for it. This way preventative measures against emphysema and liver scarring can start as soon as possible.

Testing for the deficiency can only be performed by medically qualified people and will probably be very similar to some of the tests performed on you (AAT level in a blood sample, phenotyping).

 

Signs of Alpha1 Antitrypsin Deficiency

Provided that the condition is diagnosed early, the development of lung disease due to alpha-1 antitrypsin deficiency can be delayed for years or possibly prevented altogether. People should think of the possibility of alpha-1 antitrypsin deficiency if any of the following symptoms occur alone or together:

Lungs Liver
Frequent infections
Frequent coughs, phlegm production
Shortness of breath
Bronchitis
Asthma
Jaundice
Dark urine
Distressing itching
Failure to thrive
Inflammation of the liver

Remember that these are just guidelines and only a medical doctor can give an authoritative diagnosis.

 

If you would like to be tested, you should talk directly to your GP and request it. If they are unsure who to speak to to obtain a test, could can email ADAPT (Antitrypsin Deficiency Assessment and Programme for Treatment) directly at ADAPT@uhb.nhs.uk as they will be able to send you a test for your GP. For more information, you can go here.