Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH)

Metabolism 2020 Feb;103S:153892. doi: 10.1016/j.metabol.2019.03.009.

PMID: 30928313

Anya Rothenbuhler, Dirk Schnabel, Wolfgang Högler

Highlights: Diagnostic criteria of XLH and the principles of disease management with conventional treatment or with burosumab are reviewed in this paper.

Abstract

Background: The long-term prognosis and future quality of life of children with X-linked hypophosphatemia (XLH) are determined by early diagnosis, appropriate therapeutic treatment, and continuous follow-up. In family cases, biochemical screening of possibly affected infants and improved physician understanding of clinical signs, symptoms, and biochemical features of XLH should lead to earlier diagnosis and treatment commencement. Clinical, biochemical, and radiological monitoring of therapy (effectiveness and complications) for children with XLH, as well as screening for XLH-related dental, neurosurgical, rheumatological, cardiovascular, renal, and ENT complications, are all part of the follow-up process. Burosumab, a humanized monoclonal anti-FGF23 antibody, was authorized by the European Union in 2018 as an alternative to conventional therapy (active vitamin D analogues and phosphate supplements) in growing children with XLH and insufficiently controlled disease.

Objective: This study reviews the diagnostic criteria for XLH as well as the concepts of disease management with conventional therapy or burosumab.

Keywords: Alfacalcidol, Burosumab, Osteomalacia, Rickets, X-linked hypophosphatemia (XLH).