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Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases.

Trinidad González-CejudoJuan Miguel Villa-SuárezMaría Ferrer-MillánFrancisco Andújar-VeraVictoria Contreras-BolívarMaría Carmen Andreo-LópezJosé María Gómez-VidaLuis Martínez-HerediaSheila González-SalvatierraTomás de Haro MuñozCristina García-FontanaManuel Muñoz-TorresBeatriz García-Fontana
Published in: Clinical chemistry and laboratory medicine (2023)
This new algorithm was effective in detecting previously undiagnosed cases of HPP, which appears to be twice as prevalent as previously estimated for the European population. In the near future, our algorithm could be globally applied routinely in clinical practice to minimize the underdiagnosis of HPP. Additionally, some relevant findings, such as the high prevalence of autoimmune diseases in HPP-affected patients, should be investigated to better characterize this disorder.
Keyphrases
  • machine learning
  • deep learning
  • clinical practice
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • neural network
  • replacement therapy
  • patient reported
  • smoking cessation
  • high speed