Find rare diseases
HPP in children—how laboratory values can indicate a rare disease
Hypophosphatasia (HPP) is a rare genetic disorder in children that is often overlooked in routine care because its signs are subtle and easily missed. In this project, the CCHA worked with Prof. Dr. Johannes Roth, head of the Center for Rare Diseases at Lucerne Cantonal Hospital, to identify children who may be eligible for HPP diagnosis. The criteria for blood values and other clinical parameters already defined by Alexion enabled the data set at the Children’s Hospital of Central Switzerland to be searched efficiently and in a targeted manner. The results of this project can improve the early detection of HPP patients, make clinical care available more quickly, and thus also improve the long-term quality of life of these children and adolescents.