Tumour-induced osteomalacia : the long road to diagnosis and recovery
(2024) In BMJ Case Reports 17(5).- Abstract
Tumour-induced osteomalacia is caused by tumorous production of fibroblast growth factor 23 (FGF23) leading to urinary phosphate wasting, hypophosphataemia and decreased vitamin D activation. The resulting osteomalacia presents with muscle weakness and bone pain but progresses to multiple pathological fractures. Patients often remain undiagnosed for years with severe physical, psychological and economic ramifications. A young woman presented with multiple spontaneous fractures including bilateral femoral fractures. Laboratory tests revealed severe hypophosphataemia, elevated bone turnover markers and low to normal calcium and 25-hydroxy-vitamin D levels. Treatment with phosphate, alfalcalcidol, calcium and magnesium was initiated.... (More)
Tumour-induced osteomalacia is caused by tumorous production of fibroblast growth factor 23 (FGF23) leading to urinary phosphate wasting, hypophosphataemia and decreased vitamin D activation. The resulting osteomalacia presents with muscle weakness and bone pain but progresses to multiple pathological fractures. Patients often remain undiagnosed for years with severe physical, psychological and economic ramifications. A young woman presented with multiple spontaneous fractures including bilateral femoral fractures. Laboratory tests revealed severe hypophosphataemia, elevated bone turnover markers and low to normal calcium and 25-hydroxy-vitamin D levels. Treatment with phosphate, alfalcalcidol, calcium and magnesium was initiated. 68Gallium-DOTATOC positron emission tomography imaging revealed a mass in the right foot and venous sampling of FGF23 from all extremities confirmed this tumour as the culprit. Biopsy and histology were consistent with a phosphaturic mesenchymal tumour, which was surgically resected. Phosphate levels quickly normalised postoperatively but a long convalescence with hungry bone syndrome, fracture healing and physical therapy followed.
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- author
- Vollmer, Shobitha and Olsson, Karin
- publishing date
- 2024-05-02
- type
- Contribution to journal
- publication status
- published
- subject
- in
- BMJ Case Reports
- volume
- 17
- issue
- 5
- article number
- e258858
- publisher
- BMJ Publishing Group
- external identifiers
-
- pmid:38697682
- scopus:85192035806
- ISSN
- 1757-790X
- DOI
- 10.1136/bcr-2023-258858
- language
- English
- LU publication?
- no
- id
- ea98cfea-40c4-4b66-b320-224151f56508
- date added to LUP
- 2024-05-16 15:51:39
- date last changed
- 2024-06-13 18:36:39
@article{ea98cfea-40c4-4b66-b320-224151f56508,
abstract = {{<p>Tumour-induced osteomalacia is caused by tumorous production of fibroblast growth factor 23 (FGF23) leading to urinary phosphate wasting, hypophosphataemia and decreased vitamin D activation. The resulting osteomalacia presents with muscle weakness and bone pain but progresses to multiple pathological fractures. Patients often remain undiagnosed for years with severe physical, psychological and economic ramifications. A young woman presented with multiple spontaneous fractures including bilateral femoral fractures. Laboratory tests revealed severe hypophosphataemia, elevated bone turnover markers and low to normal calcium and 25-hydroxy-vitamin D levels. Treatment with phosphate, alfalcalcidol, calcium and magnesium was initiated. <sup>68</sup>Gallium-DOTATOC positron emission tomography imaging revealed a mass in the right foot and venous sampling of FGF23 from all extremities confirmed this tumour as the culprit. Biopsy and histology were consistent with a phosphaturic mesenchymal tumour, which was surgically resected. Phosphate levels quickly normalised postoperatively but a long convalescence with hungry bone syndrome, fracture healing and physical therapy followed.</p>}},
author = {{Vollmer, Shobitha and Olsson, Karin}},
issn = {{1757-790X}},
language = {{eng}},
month = {{05}},
number = {{5}},
publisher = {{BMJ Publishing Group}},
series = {{BMJ Case Reports}},
title = {{Tumour-induced osteomalacia : the long road to diagnosis and recovery}},
url = {{http://dx.doi.org/10.1136/bcr-2023-258858}},
doi = {{10.1136/bcr-2023-258858}},
volume = {{17}},
year = {{2024}},
}