Dahir Kathryn, Zanchetta María Belén, Stanciu Irinel, Robinson Cemre, Lee Janet Y, Dhaliwal Ruban, Charles Julia, Civitelli Roberto, Roberts Mary Scott, Krolczyk Stan, Weber Thomas
Vanderbilt University Medical Center, Nashville, TN 37232, USA.
IDIM, Universidad del Salvador, C1055 AAG, Buenos Aires, Argentina.
J Endocr Soc. 2021 Jun 2;5(9):bvab099. doi: 10.1210/jendso/bvab099. eCollection 2021 Sep 1.
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome of abnormal phosphate and vitamin D metabolism caused by typically small endocrine tumors that secrete fibroblast growth factor 23 (FGF23). TIO is characterized clinically by progressive musculoskeletal pain, fatigue, proximal muscle weakness, and multiple fractures, leading to long-term disability. Misdiagnosis and delayed diagnosis are common because of the nonspecific symptoms, and several years may elapse before patients receive an accurate diagnosis and appropriate treatment. Thus, it is vital that awareness of the appropriate recognition and management of TIO is increased among healthcare professionals who may encounter patients with suspected TIO.
A roundtable meeting was held on 10 January 2020 in Dallas, TX, USA, to gather perspectives on the diagnosis and treatment of TIO. The following topics were considered: clinical presentation, patient history, differential diagnosis, laboratory assessment, imaging, venous sampling, and treatment.
This report provides a summary of our collective experiences in the management of TIO.
Laboratory tests are mandatory to expedite TIO diagnosis and should include measurement of fasting serum phosphorus, renal phosphate reabsorption, serum 1,25-dihydroxyvitamin D, and serum FGF23 levels. Functional and anatomical imaging are essential to locate the FGF23-secreting tumor(s) causing TIO. Surgical resection is often a curative treatment when the tumor can be localized; however, better management of patients who cannot be operated on with targeted therapies is needed. Further efforts to increase awareness of TIO within the medical community, and education on recommended diagnostic and treatment pathways are required to improve the management of this debilitating disease.
肿瘤诱导的骨软化症（TIO）是一种罕见的副肿瘤综合征，由典型的分泌成纤维细胞生长因子23（FGF23）的小内分泌肿瘤引起，导致磷酸盐和维生素D代谢异常。TIO的临床特征为进行性肌肉骨骼疼痛、疲劳、近端肌无力和多发骨折，可导致长期残疾。由于症状不具特异性，误诊和诊断延迟很常见，患者可能需要数年时间才能得到准确诊断和适当治疗。因此，提高可能遇到疑似TIO患者的医疗专业人员对TIO的正确识别和管理的认识至关重要。
2020年1月10日在美国得克萨斯州达拉斯举行了一次圆桌会议，以收集有关TIO诊断和治疗的观点。会议讨论了以下主题：临床表现、患者病史、鉴别诊断、实验室评估、影像学检查、静脉采血和治疗。
本报告总结了我们在TIO管理方面的集体经验。
实验室检查对于加快TIO诊断必不可少，应包括测量空腹血清磷、肾脏磷酸盐重吸收、血清1,25-二羟维生素D和血清FGF23水平。功能和解剖影像学检查对于定位导致TIO的分泌FGF23的肿瘤至关重要。当肿瘤能够定位时，手术切除通常是一种治愈性治疗方法；然而，对于无法进行手术的患者，需要更好地采用靶向治疗进行管理。需要进一步努力提高医学界对TIO的认识，并开展有关推荐诊断和治疗途径的教育，以改善对这种使人衰弱疾病的管理。
