Tumour-induced osteomalacia: the long road to diagnosis and recovery.
BMJ Case Rep
; 17(5)2024 May 02.
Article
in En
| MEDLINE
| ID: mdl-38697682
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. 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Osteomalacia
/
Fibroblast Growth Factor-23
/
Neoplasms, Connective Tissue
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
BMJ Case Rep
Year:
2024
Document type:
Article
Affiliation country:
Sweden
Country of publication:
United kingdom