Horinouchi Yasuo, Shiota Seiji, Kaimori Ryo, Yoshimura Katsuhiko, Utsunomiya-Nishimizu Rie, Yamamoto Kyoko, Miyazaki Eishi
Department of General Medicine, Oita University Faculty of Medicine, Yufu, Oita, 879-5593, Japan.
Int Med Case Rep J. 2023 Oct 10;16:659-665. doi: 10.2147/IMCRJ.S425599. eCollection 2023.
Tumor-induced osteomalacia (TIO) can cause osteomalacia due to excessive production of fibroblast growth factor 23 (FGF23) by the tumor. Since TIO is a very rare disease, it is often misdiagnosed as intervertebral disc herniation, spondyloarthritis, or osteoporosis. We report a 65-year-old man who developed generalized arthralgia and difficulty walking two years ago and was diagnosed with multiple fractures throughout his body. He was initially diagnosed with osteoporosis and was treated with calcitriol. However, he was referred to our hospital since his symptoms did not improve. We diagnosed tumor-induced osteomalacia based on low serum phosphorus, high bone-type alkaline phosphatase, high FGF23 levels, and the presence of two tumors. The responsible tumor was identified using FGF23 levels in venous sampling. As the location of the tumor made surgical resection difficult, we selected treatment with burosumab, a human monoclonal antibody against FGF23, leading to improvement in the hypophosphatemia and pain, such that he was able to walk with a cane. In cases of osteoporosis with hypophosphatemia, general physicians should keep TIO in mind, and attempt to identify the responsible tumor lesion.
肿瘤诱导的骨软化症(TIO)可因肿瘤过度产生成纤维细胞生长因子23(FGF23)而导致骨软化症。由于TIO是一种非常罕见的疾病,它常被误诊为椎间盘突出症、脊柱关节炎或骨质疏松症。我们报告一名65岁男性,他在两年前出现全身关节痛和行走困难,并被诊断为全身多处骨折。他最初被诊断为骨质疏松症,并接受了骨化三醇治疗。然而,由于症状未改善,他被转诊至我院。基于低血清磷、高骨型碱性磷酸酶、高FGF23水平以及发现两处肿瘤,我们诊断为肿瘤诱导的骨软化症。通过静脉采血检测FGF23水平确定了责任肿瘤。由于肿瘤位置导致手术切除困难,我们选择使用布罗索尤单抗(一种抗FGF23的人单克隆抗体)进行治疗,从而改善了低磷血症和疼痛,使他能够拄着拐杖行走。对于伴有低磷血症的骨质疏松症病例,全科医生应考虑到TIO,并尝试确定责任肿瘤病变。