Alpha-1 antitrypsin deficiency – How can I get tested?

Below you will find the latest articles on the topic of testing for alpha-1 antitrypsin deficiency:

New testing procedure in the Alpha-1 laboratory in Marburg

„"What happens to my sample in the laboratory?"“

Alpha-1 antitrypsin deficiency – How is it tested?

First, the general practitioner or pulmonologist determines the serum level of alpha-1 antitrypsin in the patient's blood using a few drops of blood. This can be done as part of a routine laboratory test. If the serum level is below a certain threshold, this indicates an alpha-1 antitrypsin deficiency. In this case, the patient's blood undergoes further analysis, and laboratory diagnostic tests (phenotyping and genotyping) provide information about the type of genetic alteration (mutation).

It is important to note that serum levels can more than double during inflammation, infection, or injury, and people with PiMZ or PiMS can have serum levels similar to those of healthy individuals (PiMM). Therefore, in cases of AAT deficiency, one should not rely solely on protein levels, as is often the case with certain other conditions. international study from 2021. The authors always suggest additional genetic analysis in all suspected cases.

The AlphaID^® The genetic test using a cheek swab is free of charge for both doctor and patient and can only be obtained through a doctor. The analysis is performed in an external laboratory.

For questions about AlphaID^® or its Application The doctor can contact the field service of the company Grifols (or, if this is unknown, the headquarters of Grifols Deutschland GmbH at Tel.: 069 / 660 593 100).

We would be happy to send the treating physician general information material on Alpha-1 Antitrypsin Deficiency and, if necessary, connect them with Alpha-1 specialists.

What benefit can I derive from a test for alpha-1 antitrypsin deficiency?

If the result is positive: You finally know the true cause of your daily symptoms. The diagnosis gives you the chance to live better with your illness – those affected should take preventative measures by observing certain behavioral guidelines that have a positive effect on lung function: strictly no smoking, stay physically active, generally and when choosing a profession, avoid environmental factors such as dust, fumes or solvents, and get vaccinated against influenza, pneumococcus, and hepatitis A/B.
Also in the case of a positive result: Depending on the severity, alpha-1 antitrypsin deficiency can be specifically treated with replacement therapy! But first, you need to know that you, too, are an "alpha." Studies have shown that this therapy, in which the protective protein alpha-1 antitrypsin is administered, slows the progression of the disease in many cases, thus improving the prognosis. This means a better quality of life for those affected.
In case of a negative result: Now you know that you are not one of the many hidden Alpha-1 patients and can rule out the possible diagnosis of "Alpha-1 antitrypsin deficiency" for yourself – this also gives you more clarity about yourself and your illness.

Aufruf: Lass dich auf Alpha-1-Antitrypsin-Mangel testen