Because it is a rare disorder, alpha-1 antitrypsin deficiency is often diagnosed late. In addition, the symptoms closely resemble those of other pulmonary diseases (e.g. COPD or asthma). Patients are usually between the age of 40 and 50 by the time they are first diagnosed. By then they have often been suffering from symptoms of the disorder, especially shortness of breath during physical exertion.

Who should be tested for alpha-1 antitrypsin deficiency?
A number of test methods are now available to determine whether or not a person has a genetic predisposition for alpha-1 antitrypsin deficiency. Doctors can consult national and international guidelines on the disorder to find out for which patients a test for alpha-1 antitrypsin deficiency is recommended and what tests should be performed.

Our advice: speak to your GP if

• there is someone in your family who has already developed pulmonary emphysema or who has been diagnosed with alpha-1 antitrypsin deficiency, or
• you yourself have a chronic obstructive lung disease that does not improve despite treatment, or
• you developed a chronic obstructive lung disease at a relatively young age (30 to 40 years) without previously having smoked much.

Test procedure
Your GP can order an initial blood test if severe alpha-1 antitrypsin deficiency is suspected. This test measures the alpha-1 antitrypsin level in the blood. If the level is found to be low, further blood tests are performed. The AlphaKit® allows fast and reliable diagnosis of alpha-1 antitrypsin deficiency. Your doctor can provide you with further information. For further clarification your GP will probably refer you to a pulmonologist, who will be able to carry out more detailed and special examinations.