Current Practices in Monitoring Children and Adults with X-linked Hypophosphatemia: A Global Survey of Expert Experience

Dalal S. Ali, Division of Endocrinology and Metabolism, McMaster University, Hamilton, ON L8S 4L8, Canada.
Farah Alsarraf, Division of Endocrinology and Metabolism, McMaster University, Hamilton, ON L8S 4L8, Canada.
Hajar Abu Alrob, Department of Health Research Methods, Evidence, and Impact at McMaster University, Hamilton, ON L8S 4L8, Canada.
R Todd Alexander, Department of Pediatrics, Faculty of Medicine & Dentistry, The University of Alberta, Edmonton, AB T6G 2R3, Canada.
Abdulrahman Almoulia, Division of Endocrinology and Metabolism, McMaster University, Hamilton, ON L8S 4L8, Canada.
Natasha M. Appelman-Dijkstra, Department of Internal Medicine, Division of Endocrinology, Center for Bone Quality, Leiden University Medical Center, 2300 ZA, Leiden, the Netherlands.
Signe Sparre Beck-Nielsen, Centre for Rare Diseases, Aarhus University Hospital, 8200 Aarhus N, Denmark and Department for Clinical Research, Aarhus University, 8200 Aarhus N, Denmark.
Martin Biosse-Duplan, Department of Oral Medicine, Faculty of Dentistry, UMR 1333, Université Paris Cité, 75006 Paris, France.
Maria Luisa Brandi, Institute of Endocrine and Metabolic Sciences, Vita-Salute San Raffaele University and IRCCS, 20132, Milan, Italy.
Thomas O. Carpenter, Departments of Pediatrics (Endocrinology), and Orthopaedics and Rehabilitation, Yale University School of Medicine, New Haven, CT 06520, USA.
Catherine Chaussain, Department of Oral Medicine, Faculty of Dentistry, UMR 1333, Université Paris Cité, 75006 Paris, France.
Martine Cohen-Solal, Department of Rheumatology and reference center for Rare Bone Diseases, hopital Lariboisiere, Paris, France.
Rachel K. Crowley, Rare Disease Clinical Trial Network, University College Dublin, Dublin 4, D04 T6F4, Ireland.
Karel Dandurand, Division of Internal Medicine, Endocrinology Division, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada.
Pablo Florenzano, Department of Endocrinology, School of Medicine Pontificia Universidad Católica de Chile, 8320165 Santiago, Región Metropolitana, Chile.
Claudia Gagnon, CHU de Québec-Université Laval Research Centre, Endocrinology and Nephrology Axis, QC G1V 4G2, Canada; Department of Medicine, Université Laval, QC G1V 0A6, Canada.
Paul Goodyer, Research Institute of the McGill University Health Centre, Montreal, QC H3H 2L9, Canada.
Chelsey Grimbly, Department of Pediatrics, Faculty of Medicine & Dentistry, The University of Alberta, Edmonton, AB T6G 2R3, Canada.
Salma Hussein, Division of Endocrinology and Metabolism, McMaster University, Hamilton, ON L8S 4L8, Canada.
Erik A. Imel, Department of Medicine and Pediatrics, Endocrinology, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Suzanne M. Jan de Beur, Department of Medicine, University of Virginia School of Medicine, Charlottesville, VA 22903, USA.
Muhammad K. Javaid, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford OX3 7HE, UK.
Anna Lehman, Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.
Willem F. Lems, Department of Rheumatology, Amsterdam UMC, Amsterdam 1105 AZ, the Netherlands.
E Michael Lewiecki, New Mexico Clinical Research & Osteoporosis Center, Albuquerque, NM 87106, USA.
Ciara McDonnell, Department of Paediatric Endocrinology & Diabetes, Children's Health Ireland, Dublin, D12 N512, Ireland.
Reza D. Mirza, Department of Health Research Methods, Evidence, and Impact at McMaster University, Hamilton, ON L8S 4L8, Canada.
Emmett Morgante, Department of Kinesiology, University of Waterloo, Waterloo, ON N2L 3G1, Canada.
Anthony A. Portale, Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94115, USA.
Yumie Rhee, Endocrine Research Institute, Department of Internal Medicine, Yonsei University College of Medicine, Seoul 03722, Korea.
Heide Siggelkow, Department of Trauma, Orthopedics and Reconstructive Surgery, University Medical Center Goettingen, 37075 Goettingen, Germany.
Laura L. Tosi, Department of Orthopedics, George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, United States.

Document Type

Journal Article

Publication Date

3-20-2025

Journal

The Journal of clinical endocrinology and metabolism

DOI

10.1210/clinem/dgaf180

Keywords

Expert Experience; GRADEd recommendations; Monitoring practice; Survey; X-linked hypophosphatemia (XLH)

Abstract

This report provides recommendations for XLH monitoring based on current monitoring practices of experts in the management of XLH in children (<18 years) and adults. We surveyed 43 experts to determine their monitoring practices for children and adults with XLH, including pregnant and lactating women. In the initial evaluation of children and adults with XLH, experts consistently obtain family history, fracture history and history of dental infections. They measure height, weight, blood pressure and conduct DNA analysis of multiple genes including the PHEX gene. For children follow-up, experts arrange follow-up every 3-6 months assessing height, weight, blood pressure and examining for skeletal deformities. Laboratory tests for children include serum phosphorus, corrected total/ionized calcium, alkaline phosphatase, renal function, parathyroid hormone and spot morning urine for calcium, creatinine and phosphorus. For adult follow-up, experts assess patients every 6-12-months including a clinical examination for skeletal deformities and joint involvment. The laboratory profile is completed at least once a year. In the presence of bone pain, experts conduct X-rays both in children and adults to evaluate for fractures or joint damage. With respect to nephrocalcinosis, renal ultrasound is suggested on an annual basis or less frequently when monitoring children and adults with XLH. Experts conduct a dental assessment at baseline and then every 6-12 months for all patients with XLH. The findings of the survey inform practice for assessing new patients with XLH, monitoring existing patients and identifying areas for future research. All recommendations based on these practices are weak with very low-quality evidence.

Department

Orthopaedic Surgery

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