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Dissociation of clinical, laboratory, and bone biopsy findings in adult X-linked hypophosphatemia: a case report

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Summary

X‑linked hypophosphatemia (XLH) is a phosphate wasting disorder. Typical serum constellations include low serum phosphate as well as high alkaline phosphatase (ALP) and fibroblast growth factor 23 (FGF-23 ) levels. Adult XLH patients usually suffer from (pseudo)fractures, enthesopathies, impaired mobility, and osteoarthritis. We report the case of a middle-aged woman with clinically mild disease, relatively balanced laboratory values, but bone non-healing of the femur post-surgery. Transiliac bone biopsy revealed pronounced osteomalacia and severe deterioration of bone microstructure. Due to the lack of XLH-typical symptoms, the patient was not substituted with calcitriol and phosphate in adulthood. Thus, laboratory findings and radiological examinations do not necessarily reflect bone metabolism in XLH. Bone biopsies should be considered in unclear cases or prior to surgery in adults with XLH.

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Acknowledgements

We thank Petra Keplinger, Sonja Lueger, and Phaedra Messmer for careful sample preparation and measurements. Financial support from the AUVA (research funds of the Austrian Workers Compensation Board) and the OEGK (Austrian Social Insurance Fund) is gratefully acknowledged.

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Authors and Affiliations

  1. 1st Medical Department Hanusch Hospital, Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA; Trauma Centre Meidling, Heinrich-Collin-Straße 30, 1140, Vienna, Austria

    Roland Kocijan, Markus Alexander Hartmann, Danial Arian Kraus & Jochen Zwerina

  2. Vienna Bone and Growth Center, Vienna, Austria

    Roland Kocijan, Gabriel Tilmann Mindler, Danial Arian Kraus, Adalbert Raimann & Jochen Zwerina

  3. School of medicine, Metabolic bone diseases unit, Sigmund Freud University Vienna, Vienna, Austria

    Roland Kocijan

  4. Department of Pediatric Orthopaedics, Orthopaedic Hospital Speising, Vienna, Austria

    Gabriel Tilmann Mindler

  5. Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University Vienna, Vienna, Austria

    Adalbert Raimann

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  1. Roland Kocijan
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  2. Gabriel Tilmann Mindler
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Correspondence to Roland Kocijan.

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Conflict of interest

R. Kocijan, G. Mindler, and A. Raimann have received speaker honoraria from Kyowa Kirin. The Ludwig Boltzmann Institute of Osteology has received a research grant form Ultragenyx. M. Hartmann, D. A. Kraus, and J. Zwerina state no other conflict of interest.

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Kocijan, R., Mindler, G.T., Hartmann, M.A. et al. Dissociation of clinical, laboratory, and bone biopsy findings in adult X-linked hypophosphatemia: a case report. Wien Med Wochenschr 173, 339–345 (2023). https://doi.org/10.1007/s10354-022-01000-6

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