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2016 ; 54
(3
): 642-647
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Identifying the culprit lesion in tumor induced hypophosphatemia, the solution of
a clinical enigma
#MMPMID27709474
Slot-Steenks MM
; Hamdy NA
; van de Sande MA
; Vriens D
; Cleven AH
; Appelman-Dijkstra NM
Endocrine
2016[Dec]; 54
(3
): 642-647
PMID27709474
show ga
Tumor-induced osteomalacia is a rare acquired metabolic bone disorder
characterized by isolated renal phosphate wasting due to abnormal tumor
production of fibroblast growth factor 23. We report the case of a 59 year old
woman referred to our department with a long history of progressive diffuse
muscle weakness and pain, generalized bone pains and multiple insufficiency
fractures of heels, ankles and hips due to a hypophosphatemic osteomalacia. A
fibroblast growth factor 23-producing phosphaturic mesenchymal tumor localized in
the left quadriceps femoris muscle was identified 7 years after onset of
symptoms. Excision of the tumor resulted in normalization of serum phosphate and
fibroblast growth factor 23 levels and in complete resolution of the clinical
picture with disappearance of all musculoskeletal symptoms. This case illustrates
the diagnostic difficulties in establishing a diagnosis tumor-induced
osteomalacia and in identifying the responsible tumor. Our case underscores the
clinical need to investigate all patients with persistent musculoskeletal
symptoms for hypophosphatemia. A systematic approach is of pivotal importance
because early recognition and treatment of the metabolic abnormality can prevent
deleterious effects of osteomalacia on the skeleton.