Author
Marion Wilkens, as appeared in Alpha1 Journal 1/2026.
The updated S2k guideline on COPD from the German Society for Pneumology and Respiratory Medicine (DGP) sends a strong signal: In the future, every patient with COPD should be tested for alpha-1 antitrypsin deficiency (AATD) at least once in their lifetime. What sounds like a professional recommendation is, for many sufferers, a long overdue breakthrough.
Alpha-1 antitrypsin is a protein produced in the liver that protects the lungs from inflammation-related damage. In the liver, a malformation can lead to clumping, which can result in liver damage. If this protective protein is missing or misfolded due to a genetic defect—a condition known as alpha-1 antitrypsin deficiency—it can lead to severe pulmonary emphysema, in addition to liver damage, even at a young age. The symptoms often resemble those of "classic" COPD: shortness of breath, coughing, and reduced exercise tolerance. The crucial difference, however, lies in the underlying cause—and thus the possibility of more targeted therapy and early testing of family members.
For these people, a simple blood test means clarity – and often also relief, finally receiving an explanation for the course of the disease.
It is estimated that up to 10 percent of COPD patients may carry the genetic defect, which has not yet been detected in them. In some cases, a COPD diagnosis therefore masks a rare but treatable disease. For these individuals, a simple blood test brings clarity – and often relief at finally receiving an explanation for the course of the disease. The new guideline recommendation is therefore far more than a formal adjustment. It signals the need for greater awareness, closer examination, and personalized medicine. Because only what is identified can be treated effectively. For those affected and their families, this means hope: hope for an earlier diagnosis and for tailored therapies. Sometimes, better care begins with a single, consistently performed test.
Curious?
The Alpha-1 Centers (Respiratory League) have created a detailed video on this topic:
