SFEBES2021 Poster Presentations Late Breaking (60 abstracts)
1Royal Victoria Infirmary, Newcastle, United Kingdom;2South Tyneside and Sunderland NHS Foundation Trust, South Tyneside, United Kingdom
Introduction: Causes of hypophosphataemia include reduced intestinal absorption, inadequate intake, transcellular shifts (refeeding syndrome, glucose/insulin infusion), renal loss which is either FGF23 mediated (inherited forms or tumour induced osteomalacia) or non-FGF23 mediated (hyperparathyroidism, drugs)
Case report: We present a case of 51 years old female referred to us with multiple fractures during her half marathon. She suffered from bilateral metatarsal fractures & had distal fibula fracture in 2017. Her routine blood results revealed low phosphate. She had low phosphate levels since 2019 ranging from 0.41 to 0.63 mmol/l. Her Urine calcium excretion was slightly low and phosphate excretion was within normal range. Her ALP and FGF23 levels were high as below: This pointed towards FGF23 mediated hypophosphataemia likely tumour induced. A whole body SPECT CT scan showed multiple non-specific uptakes at left Clavicle, ribs, both pubic rami and Left foot third metatarsal likely Oncogenic Osteomalacia. Subsequently, an Octreotide/Tektrotyd scan was performed which picked up faint activity at right Pubic symphysis medial to the pectineus muscle about size of 2 cm. MRI scan also spotted a small focus in Right pectineus muscle 17×11mm. After discussion at Soft Tissue/Bone MDT, she underwent resection and biopsy was consistent with phosphaturic mesenchymal tumour. Her phosphate levels have normalized now.
Blood test | Result | Normal Range |
Phosphate | 0.41 mmol/l | 0.74-1.14 mmol/l |
Alkaline Phosphatase | 320 U/l | 30-120 U/l |
FGF23 | 341 RU/ml | <100 RU/ml |
Discussion: Tumour Induced Osteomalacia (TIO) is a rare paraneoplastic syndrome causing muscle weakness, fractures and bone pains. FGF23 is secreted by the mesenchymal tumours & impairs phosphate reabsorption and 1α-hydroxylation of 25-hydroxyvitamin D at renal tubules. Most common tumours are in the skin, muscles, and bones of extremities or paranasal sinuses. First line treatment is surgery, if not feasible then phosphate & Vitamin D supplementation is helpful.