A rare cause of atraumatic fractures: case series of four patients with tumor-induced osteomalacia.

Clinical Diabetes and Endocrinology Pub Date : 2020-07-06 eCollection Date: 2020-01-01 DOI:10.1186/s40842-020-00101-8

Debbie W Chen, Gregory A Clines, Michael T Collins, Liselle Douyon, Palak U Choksi

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Abstract

Background: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome that presents with hypophosphatemia, bone pain, muscle weakness and fractures. We report a case series of four patients with TIO that resulted in significant muscle weakness and multiple atraumatic fractures.

Case presentation: Four patients were referred to an endocrinology clinic for the evaluation of multiple atraumatic fractures, muscle weakness, generalized muscle and joint pain. Laboratory evaluation was notable for persistent hypophosphatemia due to urinary phosphate wasting, low to low-normal 1,25-dihydroxyvitamin D, elevated alkaline phosphatase and elevated fibroblast growth factor 23 (FGF23). Tumor localization was successful, and all four patients underwent resection of phosphaturic mesenchymal tumors. Post-operatively, patients exhibited normalization of serum phosphorus, in addition to significant improvement in their ambulatory function.

Conclusion: Hypophosphatemia with elevated FGF23 and low 1,25-dihydroxyvitamin D level in the setting of multiple atraumatic fractures necessitates careful evaluation for biochemical evidence of tumor-induced osteomalacia.

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非创伤性骨折的罕见病因：四名肿瘤诱发骨软化症患者的病例系列。

背景：肿瘤诱发骨软化症（TIO）是一种罕见的副肿瘤综合征，表现为低磷血症、骨痛、肌无力和骨折。我们报告了一个由四名 TIO 患者组成的病例系列，这些患者均出现了明显的肌无力和多发性创伤性骨折：四名患者因多发性创伤性骨折、肌无力、全身肌肉和关节疼痛被转诊至内分泌科门诊。实验室评估结果显示，尿磷酸盐流失导致持续性低磷血症，1,25-二羟维生素 D 低至正常值，碱性磷酸酶升高，成纤维细胞生长因子 23（FGF23）升高。肿瘤定位成功，所有四名患者都接受了磷酸盐间质瘤切除术。术后，患者的血清磷恢复正常，活动功能也明显改善：结论：在多发性创伤性骨折的情况下，低磷血症伴有 FGF23 升高和 1,25-二羟维生素 D 水平降低，需要仔细评估肿瘤诱发骨软化症的生化证据。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Diabetes and Endocrinology

自引率

0.00%

发文量

审稿时长

8 weeks

期刊介绍： Clinical Diabetes and Endocrinology is an open access journal publishing within the field of diabetes and endocrine disease. The journal aims to provide a widely available resource for people working within the field of diabetes and endocrinology, in order to improve the care of people affected by these conditions. The audience includes, but is not limited to, physicians, researchers, nurses, nutritionists, pharmacists, podiatrists, psychologists, epidemiologists, exercise physiologists and health care researchers. Research articles include patient-based research (clinical trials, clinical studies, and others), translational research (translation of basic science to clinical practice, translation of clinical practice to policy and others), as well as epidemiology and health care research. Clinical articles include case reports, case seminars, consensus statements, clinical practice guidelines and evidence-based medicine. Only articles considered to contribute new knowledge to the field will be considered for publication.