Tumor-induced osteomalacia (TIO) is a rare paraneoplastic form of renal phosphate wasting that results in severe hypophosphatemia, a defect in vitamin D metabolism, and osteomalacia. This debilitating disorder is illustrated by the clinical presentation of a 55-year-old woman with progressive fatigue, weakness, and muscle and bone pain with fractures. After a protracted clinical course and extensive laboratory evaluation, tumor-induced osteomalacia was identified as the basis of her clinical presentation. In this article, the distinctive clinical characteristics of this syndrome, the advances in diagnosis of TIO, and new insights into the pathophysiology of this disorder are discussed.
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http://dx.doi.org/10.1001/jama.294.10.1260 | 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 PDFJ Clin Densitom
December 2024
New Mexico Clinical Research & Osteoporosis Center, Albuquerque, NM, United States. Electronic address:
Bone Health ECHO (Extension of Community Healthcare Outcomes) is a virtual community of practice that has been connecting healthcare professionals online once weekly for the past 10 years. A key component of each ECHO session is presentation and discussion of patient cases with diagnostic and treatment dilemmas. Here we present two wheelchair-bound female patients aged 47 years (Patient 1) and 34 years (Patient 2), both with type 1 diabetes mellitus (T1DM).
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Division of Endocrinology and Metabolism, Department of Medicine, Mayo Clinic Rochester, USA.
Context: TIO, a paraneoplastic disorder characterised by renal phosphate wasting, is cured by surgical removal of the culprit tumour. Despite correct localization, some remain refractory to intervention, resulting in substantial long-term medical complications.
Aim: We aim to identify risk factors associated with a refractory outcome.
Calcif 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.
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