FGF-23 transmitted tumor – induced hypophosphatemic osteomalacia: A rare case of a young woman with recurrent fractures and review of the literature

Abstract

We present a case of tumor-induced osteomalacia (TIO) in a young woman of 22 years. The fibroblast growth factor 23 transmitting tumor in her left foot remained undetected for several years. She suffered several fractures including insufficiency fractures of both femoral necks requiring bilateral proximal femoral nailing. After phosphaturia was diagnosed any known genetic etiology was excluded. Even advanced imaging modalities were unable to detect the clinically silent tumor until an 68Ga-DOTA-TOC-PET/CT-scan revealed a mass with paraneoplastic activity in the left foot. Complete resection of the tumor proved to cure her condition after 9 years of uncertainty and suffering. Serum phosphate levels returned to normal within days.After presentation of the case report, the current literature on published cases of TIO between 1956 and 2021 is summarized to emphasize the importance of an accurate and early diagnosis. Our case report aims to illustrate that a long latency period of diagnosis may be avoided utilizing the latest imaging techniques to spare affected patients from long treatment of symptoms instead of finding the underlying cause.

Keywords

• FGF 23
• Tumor-induced osteomalacia
• 68Ga-DOTA-TOC-PET/CT-scan
• Phosphaturic tumor