Oncogenic osteomalacia (OOM) is a rare but curable cause of metabolic bone disease. We report 9 patients with OOM, including 2 patients with occult nasal sinus tumours and 1 in whom a progressive increase in the post-operative FGF23 level heralded the development of metastatic pulmonary disease. The median duration of symptoms before definitive surgical treatment was 6 years, and in one patient was more than 10 years. This series demonstrates that careful imaging of the nasal sinuses should be part of the work-up of cases of oncogenic osteomalacia, that serum FGF23 can be helpful in both diagnosis and monitoring treatment outcomes, and emphasizes that serum phosphate should be measured in patients with metabolic bone disease and/or unexplained musculoskeletal symptoms.
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http://dx.doi.org/10.1016/j.ejim.2008.01.011 | DOI Listing |
BMJ Case Rep
January 2025
Internal Medicine, MS Ramaiah Medical College, Bengaluru, Karnataka, India.
Tumour-induced osteomalacia (TIO) is an uncommon, debilitating disorder often characterised by non-specific clinical manifestations, posing a significant diagnostic challenge. The tumours causing TIO can be minuscule and occur in unusual areas, further complicating diagnosis. This report details the case of a woman in her early 30s presenting with chronic pain who subsequently developed fragility fractures.
View Article and Find Full Text PDFCureus
December 2024
Department of Medicine, Division of Endocrinology and Metabolism, King Abdulaziz Medical City, Riyadh, SAU.
Epithelioid hemangioendothelioma (EHE) is a rare form of vascular neoplasm that can manifest with various symptoms or be discovered incidentally in asymptomatic patients. In this report, we describe a case of a 56-year-old male who presented with progressive lower limb weakness over four years. The evaluation revealed severe hypophosphatemia, an inappropriately normal fibroblast growth factor 23 C-terminal (cFGF-23) level, and a 30 x 20 mm hypermetabolic right pleural mass, which was subsequently proven to be EHE.
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD, 20892, USA.
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by hypersecretion of fibroblast growth factor 23 (FGF23) by typically benign phosphaturic mesenchymal tumors (PMTs). FGF23 excess causes chronic hypophosphatemia through renal phosphate losses and decreased production of 1,25-dihydroxy-vitamin-D. TIO presents with symptoms of chronic hypophosphatemia including fatigue, bone pain, weakness, and fractures.
View Article and Find Full Text PDFOxf Med Case Reports
December 2024
Department of Chemical Pathology & Metabolic Diseases, University Hospitals of Leicester NHS Trust, Groby Road, Leicester LE39QP, United Kingdom.
Tumour-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare paraneoplastic syndrome mediated by the overproduction of phosphaturic hormone fibroblast growth factor 23. TIO is most commonly caused by mesenchymal tumours (PMTs), which are typically small, slow-growing and often undetectable on physical examination and conventional imaging techniques. Patients with TIO typically undergo a protracted period of diagnostic workup and medical treatment due to presentation with nonspecific symptoms and difficulty in localising the culprit tumour.
View Article and Find Full Text PDFRev Endocr Metab Disord
December 2024
Department of Endocrinology, University Hospitals Leuven, Leuven, Belgium.
Intravenous iron supplementation is increasingly used to safely and effectively correct iron deficiency anemia, but some formulations are linked to a renal phosphate wasting syndrome which is mediated by fibroblast growth factor 23. Unawareness among prescribers and the nonspecific clinical symptoms of hypophosphatemia result in underreporting of this complication. Even though it is often an asymptomatic and self-limiting condition, accumulating evidence from case reports and dedicated randomized controlled trials show that IV iron induced hypophosphatemia may be associated with clinical symptoms.
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