(Vienna, 06 June 2025) - A new study by the Medical University of Vienna shows that many medical laboratories in Austria do not use age-appropriate reference ranges for children. This can lead to pathological blood values in children being considered inconspicuous - with possible consequences for the early detection of rare diseases.
As part of the MedUni Vienna study, two rare genetic bone diseases were examined as examples: X-linked hypophosphatemia (XLH) and hypophosphatasia (HPP). Both diseases can be recognized by certain laboratory values - in XLH the phosphate level in the blood is reduced, in HPP the activity of alkaline phosphatase. Correct interpretation of the results is only possible if age-appropriate normal ranges are used, since these values in children differ significantly from those in adults.
The researchers sent a standardized blood sample with abnormal values for a four-year-old child to 26 laboratories in Austria. Although the measurement results were technically correct, many laboratories interpreted the values incorrectly as normal for the given age. Only 18% of the laboratories used suitable reference ranges for phosphate, 41% for alkaline phosphatase. In more than half of the cases, the pathological change went unnoticed.
Study leader Adalbert Raimann from the Department of Pediatrics and Adolescent Medicine at MedUni Vienna and the Vienna Bone and Growth Center (an association of several clinics that deal with rare bone diseases) explains: "One reason for this result is the lack of legal requirements: In Austria - as in many other European countries - there is still no obligation for laboratories to use or transparently state age-related reference values."
The study authors recommend developing national and international guidelines for pediatric reference ranges and linking their application to quality standards. Until then, a public list of laboratories with child-appropriate standard values could create transparency to enable children and adolescents to receive age-appropriate laboratory diagnostics and rapid diagnosis.
Publication: Wiener Klinische Wochenschrift
Inadequate pediatric reference ranges impede the diagnosis of X-linked hypophosphatemia and hypophosphatasia in Austria
Jojo Steininger, Magdalena Jablonska, Susanne Sagmeister, Gabriel Mindler, Adalbert Raimann
Vienna. Klin. Wochenschr. 2025 May 19. DOI: 10.1007/s00508-025-02546-2
https://link.springer.com/article/10.1007/s00508-025-02546-2