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Treating ‘osteoporosis’: a near miss in an unusual case of FGF-23-mediated hypophosphataemic osteomalacia
SUMMARY: We present the case of a 60-year-old female who developed repeated atraumatic stress fractures. She was initially diagnosed with osteoporosis based on her dual-energy X-ray absorptiometry (DXA) scan bone mineral density (BMD) T-scores and started on denosumab therapy. Secondary osteoporosis...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Bioscientifica Ltd
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9716362/ https://www.ncbi.nlm.nih.gov/pubmed/36511449 http://dx.doi.org/10.1530/EDM-22-0300 |
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author | Lin, Mike Ganda, Kirtan |
author_facet | Lin, Mike Ganda, Kirtan |
author_sort | Lin, Mike |
collection | PubMed |
description | SUMMARY: We present the case of a 60-year-old female who developed repeated atraumatic stress fractures. She was initially diagnosed with osteoporosis based on her dual-energy X-ray absorptiometry (DXA) scan bone mineral density (BMD) T-scores and started on denosumab therapy. Secondary osteoporosis screen revealed abnormal myeloma screen and low serum phosphate levels. It was thought that the patient had multiple myeloma with associated Fanconi-related tubular dysfunction. However, fibroblast growth factor-23 (FGF-23) levels were grossly elevated, making Fanconi syndrome unlikely. The patient was subsequently diagnosed with two separate conditions, namely cardiac amyloid light-chain (AL) amyloidosis and FGF-23-related hypophosphataemia, likely due to tumour-induced osteomalacia. This case highlights the importance of excluding osteomalacia as a cause of low BMD and checking FGF-23 levels in the workup for hypophosphataemia. LEARNING POINTS: Tumour-induced osteomalacia is a difficult diagnosis as the tumour is often small and slow growing. Imaging may fail to identify a tumour, and treatment therefore consists of calcitriol and phosphate replacement. Tumour-induced osteomalacia should be suspected in the adult presenting with new-onset hypophosphataemia, elevated FGF-23 levels and isolated renal phosphate wasting. Serum phosphate is not part of the routine chemistry panels. Routinely checking phosphate levels prior to initiating antiresorptive therapy is warranted. DXA cannot distinguish low bone mineral density due to osteoporosis from osteomalacia. Antiresorptive therapy should be avoided in osteomalacia due to the risk of clinical and radiographic deterioration. |
format | Online Article Text |
id | pubmed-9716362 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Bioscientifica Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-97163622022-12-06 Treating ‘osteoporosis’: a near miss in an unusual case of FGF-23-mediated hypophosphataemic osteomalacia Lin, Mike Ganda, Kirtan Endocrinol Diabetes Metab Case Rep Insight into Disease Pathogenesis or Mechanism of Therapy SUMMARY: We present the case of a 60-year-old female who developed repeated atraumatic stress fractures. She was initially diagnosed with osteoporosis based on her dual-energy X-ray absorptiometry (DXA) scan bone mineral density (BMD) T-scores and started on denosumab therapy. Secondary osteoporosis screen revealed abnormal myeloma screen and low serum phosphate levels. It was thought that the patient had multiple myeloma with associated Fanconi-related tubular dysfunction. However, fibroblast growth factor-23 (FGF-23) levels were grossly elevated, making Fanconi syndrome unlikely. The patient was subsequently diagnosed with two separate conditions, namely cardiac amyloid light-chain (AL) amyloidosis and FGF-23-related hypophosphataemia, likely due to tumour-induced osteomalacia. This case highlights the importance of excluding osteomalacia as a cause of low BMD and checking FGF-23 levels in the workup for hypophosphataemia. LEARNING POINTS: Tumour-induced osteomalacia is a difficult diagnosis as the tumour is often small and slow growing. Imaging may fail to identify a tumour, and treatment therefore consists of calcitriol and phosphate replacement. Tumour-induced osteomalacia should be suspected in the adult presenting with new-onset hypophosphataemia, elevated FGF-23 levels and isolated renal phosphate wasting. Serum phosphate is not part of the routine chemistry panels. Routinely checking phosphate levels prior to initiating antiresorptive therapy is warranted. DXA cannot distinguish low bone mineral density due to osteoporosis from osteomalacia. Antiresorptive therapy should be avoided in osteomalacia due to the risk of clinical and radiographic deterioration. Bioscientifica Ltd 2022-10-18 /pmc/articles/PMC9716362/ /pubmed/36511449 http://dx.doi.org/10.1530/EDM-22-0300 Text en © The authors https://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. (https://creativecommons.org/licenses/by-nc-nd/4.0/) . |
spellingShingle | Insight into Disease Pathogenesis or Mechanism of Therapy Lin, Mike Ganda, Kirtan Treating ‘osteoporosis’: a near miss in an unusual case of FGF-23-mediated hypophosphataemic osteomalacia |
title | Treating ‘osteoporosis’: a near miss in an unusual case of FGF-23-mediated hypophosphataemic osteomalacia |
title_full | Treating ‘osteoporosis’: a near miss in an unusual case of FGF-23-mediated hypophosphataemic osteomalacia |
title_fullStr | Treating ‘osteoporosis’: a near miss in an unusual case of FGF-23-mediated hypophosphataemic osteomalacia |
title_full_unstemmed | Treating ‘osteoporosis’: a near miss in an unusual case of FGF-23-mediated hypophosphataemic osteomalacia |
title_short | Treating ‘osteoporosis’: a near miss in an unusual case of FGF-23-mediated hypophosphataemic osteomalacia |
title_sort | treating ‘osteoporosis’: a near miss in an unusual case of fgf-23-mediated hypophosphataemic osteomalacia |
topic | Insight into Disease Pathogenesis or Mechanism of Therapy |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9716362/ https://www.ncbi.nlm.nih.gov/pubmed/36511449 http://dx.doi.org/10.1530/EDM-22-0300 |
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