Author
Marion Wilkens, as appeared in Alpha1 Journal 2/2025.
The MDGP's 2025 Young Researcher Award was presented at the 27th Autumn Meeting of the Central German Society for Pneumology and Thoracic Surgery (MDGP), held from November 14th to 15th, 2025 in Magdeburg. One of the two awards was given to Dr. Andreas Hoheisel from Leipzig/Freiburg (Breisgau) for a project on alpha-1 antitrypsin deficiency, which we are very pleased about.
Project title: Non-targeted screening for alpha-1 antitrypsin deficiency
A first publication on this topic, co-authored with PD Dr. med. Thomas Köhnlein and Prof. Dr. Daiana Stolz, was already published in European Respiratory Journal 2024 instead of:
This retrospective study examines a non-targeted screening of patients referred to sleep medicine and allergy practices. It investigates the prevalence of alpha-1 antitrypsin deficiency in patients referred for various reasons, even without respiratory symptoms. The aim was to determine whether individuals with this genetic deficiency can remain healthy into old age and do not necessarily develop symptoms.
All participants underwent routine blood tests to determine their alpha-1 antitrypsin levels, regardless of whether they presented with respiratory conditions such as cough or shortness of breath, or with other complaints such as allergies or suspected sleep apnea. A total of 5,325 individuals were examined, approximately half for respiratory conditions and the other half for non-respiratory problems. Forty individuals, less than one percent of those examined, showed significantly reduced alpha-1 antitrypsin levels, indicating a severe genetic deficiency. These patients were between 27 and 88 years old, and the most frequent genetic finding corresponded to a severe deficiency type. Liver function was almost always normal; only one individual developed symptoms before the age of 40. From the age of 40 onward, approximately half of the affected individuals exhibited lung disease, which manifested itself with declining lung function with increasing age. Many affected individuals, however, had no or only mild symptoms, despite having the genetic defect. More than half had smoked at some point in their lives, yet only a portion of them developed lung disease.
The results show that alpha-1 antitrypsin deficiency can manifest very differently and does not automatically lead to illness, even in old age. These are encouraging results that now support our long-held belief that "a deficiency is not necessarily an illness" with data.
Since we were in Berlin together when Dr. Hoheisel received the news, we were able to congratulate him personally and pledge and discuss our cooperation for further Alpha-1 projects.
In 2026, we will report on the next research projects of Dr. Hoheisel, together with Prof. Dr. Stolz and PD Dr. Köhnlein. They are key players in the digital transformation of Alpha-1 deficiency research and are helping to advance research and improve care. To this end, they are using new technologies such as AI for the diagnosis and management of this important, yet often overlooked, genetic disorder.
Congratulations, dear Dr. Hoheisel, and keep up the good work!
