Consensus on clinical management of tumor-induced osteomalacia

Jiang, Yan; Li, Xiang; Huo, Li; Liu, Yong; Lyu, Wei; Zhou, Lian; Yu, Wei; Wu, Huanwen; Xing, Xiaoping; Li, Mei; Wang, Ou; Chi, Yue; Jiajue, Ruizhi; Pei, Yu; Liu, Jianmin; Ba, Jianming; Zhang, Qiao; Sheng, Zhifeng; Zhang, Zhenlin; Zhao, Jiajun; Minisola, Salvatore; Xia, Weibo

doi:10.1097/cm9.0000000000001448

Cited by 9 publications

(20 citation statements)

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“…TIO is curable if the causative tumor can be completely resected, which is the definitive and preferred treatment [3,25,26]. When the tumor is not located, the resection of a primary or recurrent tumor is unsuccessful or not possible, or the tumor is metastatic, medical therapy is required to improve symptoms and diminish skeletal complications [3,22,26]. [3,5,6].…”

Section: Introductionmentioning

confidence: 99%

“…There are many challenges associated with the diagnosis of TIO. As a rare disease, the clinical presentation is currently poorly recognized, and because serum phosphate is not routinely included in standard chemistry panels [ 1 , 7 ], an increased awareness of the importance of specifically requesting its measurement is required [ 3 , 20 , 21 , 22 ]. There is also often a failure to understand the association between low serum phosphate and presenting clinical symptoms [ 3 , 20 , 21 , 22 ].…”

Section: Introductionmentioning

confidence: 99%

“…As a rare disease, the clinical presentation is currently poorly recognized, and because serum phosphate is not routinely included in standard chemistry panels [ 1 , 7 ], an increased awareness of the importance of specifically requesting its measurement is required [ 3 , 20 , 21 , 22 ]. There is also often a failure to understand the association between low serum phosphate and presenting clinical symptoms [ 3 , 20 , 21 , 22 ]. Furthermore, the lengthy differential diagnosis of hypophosphatemia, coupled with a complicated diagnostic evaluation [ 3 , 20 , 21 , 22 ], can also impede diagnosis, as can confounding genetic causes that mimic the biochemical and clinical presentation of TIO [ 3 , 20 , 21 , 22 ].…”

Section: Introductionmentioning

confidence: 99%

“…There is also often a failure to understand the association between low serum phosphate and presenting clinical symptoms [ 3 , 20 , 21 , 22 ]. Furthermore, the lengthy differential diagnosis of hypophosphatemia, coupled with a complicated diagnostic evaluation [ 3 , 20 , 21 , 22 ], can also impede diagnosis, as can confounding genetic causes that mimic the biochemical and clinical presentation of TIO [ 3 , 20 , 21 , 22 ]. Finally, the localization of tumors can also be challenging [ 3 , 20 , 21 , 22 , 23 ].…”

Section: Introductionmentioning

confidence: 99%

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Global guidance for the recognition, diagnosis, and management of tumor‐induced osteomalacia

et al. 2022

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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)2D) 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)2D, 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.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Global guidance for the recognition, diagnosis, and management of tumor‐induced osteomalacia

et al. 2022

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“…However, its use is not spread due to limited data [19]. In order to prevent complications such as secondary/tertiary hyperparathyroidism, nephrolithiasis and renal impairment, patients should be monitored every 3 to 6 months for serum levels of calcium, phosphate, ALP and PTH, 24hour renal calcium excretion, as well as for their renal function [20].…”

Section: Conventional Therapymentioning

confidence: 99%

Novel Therapeutic Agents for Rare Diseases of Calcium and Phosphate Metabolism

et al. 2022

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The last decade has been revolutionary regarding the management of rare bone diseases caused by impaired calcium and phosphate metabolism. Elucidation of the underlying genetic basis and pathophysiologic alterations has been the determinant factor for the development of new, disease-specific treatment agents. The phosphaturic hormone Fibroblast Growth Factor 23 (FGF23) possesses a critical role in the pathogenesis of various hypophosphatemic disorders. Among them, the genetic disorder of X-linked hypophosphatemia and the acquired syndrome of tumor-induced osteomalacia, although very rare, have attracted the scientific community’s attention towards designing an FGF23-inhibitor as a potential specific therapy. The monoclonal antibody burosumab was approved for the treatment of children and adult patients with X-linked hypophosphatemia and recently for tumor-induced osteomalacia patients, demonstrating benefits regarding their symptoms, biochemical profile and bone mineralization status. Asfotase alfa is a hydroxyapatite-targeted recombinant alkaline phosphatase, an enzymatic replacement therapy, substituting the defective activity of tissue non-specific alkaline phosphatase, in patients suffering from hypophosphatasia. Promising data regarding its favorable effect on survival rate, bone quality, fracture healing, muscle strength, mobility, respiratory function, and general quality of life have led to the approval of the drug for the treatment of childhood-onset hypophosphatasia. Given the high costs of treatment for both agents and their limited clinical use until now, more data are needed to define patients’ characteristics that make them ideal candidates for therapy. Long-term safety issues also need to be clarified.

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