肿瘤性软骨发育不良（TIO）是一种罕见的旁肿瘤综合症，由分泌成纤维细胞生长因子23（FGF23）的间充质肿瘤引起。患者表现为进行性骨痛、肌无力和易碎性骨折。TIO的特征为低磷血症、过度肾磷酸盐排泄和低/不当正常的1,25-二羟基维生素D（1,25（OH）2 D）水平。TIO的罕见和神秘的临床表现导致医疗界认识有限。因此，可能不会要求适当的诊断测试，导致诊断延迟和患者预后更差。我们已经制定了一份全球指南文件，以提高医疗界对TIO的认识，使其能够识别出TIO患者并进行适当的转诊。我们提供的建议有助于诊断、转诊和治疗，帮助促进全球标准化的患者管理。我们回顾了文献并进行了三轮TIO专家德尔菲调查。声明是基于已发表的证据和专家意见起草的（对最终建议需要≥70％的共识）。慢性肌肉疼痛或无力、易碎性骨折或骨痛的患者应测量血清磷酸盐。体格检查应确定肌无力的特征并识别可能是引起肿瘤的肿块。优先进行实验室评估包括尿/血清磷和肌酸酐以评估磷的肾小管重吸收和TmP / GFR、碱性磷酸酶、甲状旁腺激素、25-羟维生素D、1,25（OH）2 D和FGF23。对于临床/生化怀疑为TIO的患者应转诊给专家进行确诊，功能成像应用于定位引起肿瘤的肿瘤。推荐治疗是肿瘤切除或无法切除/无法确定肿瘤的磷盐加活性维生素D或布罗瑟单抗。©2022作者。由John Wiley＆Sons Ltd发表的《内科医学杂志》代表《内科医学杂志出版协会》。

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by mesenchymal tumors that secrete fibroblast growth factor 23 (FGF23). Patients present with progressive bone pain, muscle weakness, and fragility fractures. TIO is characterized by hypophosphatemia, excess renal phosphate excretion, and low/inappropriately normal 1,25-dihydroxyvitamin D (1,25(OH)2 D) levels. Rarity and enigmatic clinical presentation of TIO contribute to limited awareness among the medical community. Accordingly, appropriate diagnostic tests may not be requested, leading to delayed diagnosis and poorer patient outcomes. We have developed a global guidance document to improve the knowledge of TIO in the medical community, enabling the recognition of patients with TIO and appropriate referral. We provide recommendations aiding diagnosis, referral, and treatment, helping promote a global standard of patient management. We reviewed the literature and conducted a three-round Delphi survey of TIO experts. Statements were drafted based on published evidence and expert opinions (≥70% consensus required for final recommendations). Serum phosphate should be measured in patients presenting with chronic muscle pain or weakness, fragility fractures, or bone pain. Physical examination should establish features of myopathy and identify masses that could be causative tumors. Priority laboratory evaluations should include urine/serum phosphate and creatinine to assess renal tubular reabsorption of phosphate and TmP/GFR, alkaline phosphatase, parathyroid hormone, 25-hydroxyvitamin D, 1,25(OH)2 D, and FGF23. Patients with the clinical/biochemical suspicion of TIO should be referred to a specialist for diagnosis confirmation, and functional imaging should be used to localize causative tumor(s). Recommended treatment is tumor resection or, with unresectable/unidentifiable tumors, phosphate salts plus active vitamin D, or burosumab.© 2022 The Authors. Journal of Internal Medicine published by John Wiley & Sons Ltd on behalf of Association for Publication of The Journal of Internal Medicine.