X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline - Scorecard - MDSpire

X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline

  • By

  • Dalal S Ali

  • Thomas O Carpenter

  • Erik A Imel

  • Leanne M Ward

  • Natasha M Appelman-Dijkstra

  • Catherine Chaussain

  • Suzanne M Jan de Beur

  • Pablo Florenzano

  • Hajar Abu Alrob

  • Rana Aldabagh

  • R Todd Alexander

  • Farah Alsarraf

  • Signe Sparre Beck-Nielsen

  • Martin Biosse-Duplan

  • Rachel K Crowley

  • Karel Dandurand

  • Guido Filler

  • Lisa Friedlander

  • Seiji Fukumoto

  • Claudia Gagnon

  • Paul Goodyer

  • Corinna Grasemann

  • Chelsey Grimbly

  • Salma Hussein

  • Muhammad K Javaid

  • Sarah Khan

  • Aneal Khan

  • Anna Lehman

  • Willem F Lems

  • E Michael Lewiecki

  • Ciara McDonnell

  • Reza D Mirza

  • Emmett Morgante

  • Archibald Morrison

  • Anthony A Portale

  • Christina Rao

  • Yumie Rhee

  • Eric T Rush

  • Heide Siggelkow

  • Sotirios Tetradis

  • Laura Tosi

  • Gordon Guyatt

  • Maria Luisa Brandi

  • Aliya A Khan

  • February 17, 2025

  • 0 min

Share

Clinical Scorecard: Clinical Practice Guidelines for the Management of X-Linked Hypophosphatemia in Pediatric Patients: Insights from an International Working Group

At a Glance

CategoryDetail
ConditionX-linked hypophosphatemia (XLH), a rare inherited disorder causing chronic hypophosphatemia and impaired bone mineralization in children
Key MechanismsPathogenic loss-of-function variants in PHEX gene leading to increased FGF23, renal phosphate wasting, and skeletal deformities
Target PopulationChildren and adolescents with suspected or confirmed XLH
Care SettingMultidisciplinary healthcare settings including pediatric endocrinology, nephrology, orthopedics, dentistry, and genetics

Key Highlights

  • Diagnosis is based on chronic hypophosphatemia with exclusion of other causes of renal phosphate wasting and supported by X-linked inheritance pattern
  • Treatment recommendations include burosumab and conventional therapy (phosphate salts and active vitamin D), with evidence graded by GRADE methodology
  • Monitoring recommendations are based on expert clinical practice survey with very low certainty of evidence and include clinical, biochemical, and radiographic assessments

Guideline-Based Recommendations

Diagnosis

  • Diagnose XLH in presence of chronic hypophosphatemia and absence of other renal phosphate wasting conditions
  • Consider X-linked inheritance pattern to support diagnosis
  • Evaluate clinical features such as lower limb deformities, craniosynostosis, dental abscesses, growth delay, bone pain, and fractures

Management

  • Use burosumab or conventional therapy (phosphate salts and active vitamin D) based on systematic review evidence
  • Address dental complications with proposed mitigation strategies
  • Incorporate multidisciplinary care involving endocrinology, nephrology, orthopedics, and dentistry

Monitoring & Follow-up

  • Perform clinical, biochemical, and radiographic evaluations at intervals guided by expert consensus
  • Monitoring practices should be performed by at least 80% of experts in 80% of patients
  • Adjust monitoring frequency and parameters based on individual patient response and disease progression

Risks

  • Potential complications include skeletal deformities, dental infections, enthesopathy, arthritis, and spinal stenosis primarily manifesting in adulthood
  • Risk of osteomalacia-related fractures and pseudofractures in children
  • Uncertainty in monitoring evidence necessitates individualized risk assessment

Patient & Prescribing Data

Pediatric patients diagnosed with XLH based on clinical, biochemical, and genetic criteria

Burosumab shows benefit compared to conventional therapy or no therapy; conventional therapy remains a treatment option; patient values and preferences are integral to treatment decisions

Clinical Best Practices

  • Employ a structured diagnostic approach including clinical, biochemical, radiographic, and genetic assessments
  • Use GRADE methodology to guide treatment decisions and communicate strength of recommendations
  • Involve multidisciplinary teams for comprehensive management including dental care
  • Base monitoring on expert consensus practices due to limited high-quality evidence
  • Consider patient and family preferences in treatment planning

References

Original Source(s)

X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline

  • by Dalal S Ali, Thomas O Carpenter, Erik A Imel, Leanne M Ward, Natasha M Appelman-Dijkstra, Catherine Chaussain, Suzanne M Jan de Beur, Pablo Florenzano, Hajar Abu Alrob, Rana Aldabagh, R Todd Alexander, Farah Alsarraf, Signe Sparre Beck-Nielsen, Martin Biosse-Duplan, Rachel K Crowley, Karel Dandurand, Guido Filler, Lisa Friedlander, Seiji Fukumoto, Claudia Gagnon, Paul Goodyer, Corinna Grasemann, Chelsey Grimbly, Salma Hussein, Muhammad K Javaid, Sarah Khan, Aneal Khan, Anna Lehman, Willem F Lems, E Michael Lewiecki, Ciara McDonnell, Reza D Mirza, Emmett Morgante, Archibald Morrison, Anthony A Portale, Christina Rao, Yumie Rhee, Eric T Rush, Heide Siggelkow, Sotirios Tetradis, Laura Tosi, Gordon Guyatt, Maria Luisa Brandi, Aliya A Khan

  • February 17, 2025

Related Content

Characteristics and risk factors of immune-related adverse events in patients receiving immune checkpoint inhibitor combination therapy

Predictors of early response to GnRH and gonadotropin therapy in pediatric patients with suspected dual congenital hypogonadotropic hypogonadism: a retrospective single-center study

Correction: Regulatory actions of LH and follicle-stimulating hormone on breast cancer cells and mammary tumors in rats