The diagnostic dilemma of tumor induced osteomalacia: a retrospective analysis of 144 cases

Endocrine journal

Ou Wang¹  Juan Feng¹  Yan Jiang¹  Mei Li¹  Xun-wu Meng¹  Xiaoping Xing¹  Wei-bo Xia¹  Li Huo²  Fang Li²  Jin Jin³  Yong Liu³  Ding-rong Zhong⁴  Wei Yu⁵  Lian Zhou⁶  Fang Qi⁷  Wei Lv⁷ 

[1] Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;Department of Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;Department of Orthopaedics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;Department of Stomatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;ENT Department, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China

关键词: Tumor induced osteomalacia;    Hypophosphatemia;    Fibroblast growth factor 23;    Misdiagnosis;    Missed diagnosis;   

DOI  :  10.1507/endocrj.EJ16-0587

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

Diagnostic delay of tumor induced osteomalacia (TIO) is common in clinic practice.To investigate the diagnostic condition of TIO in China and raise clinicians’ awareness of TIO, we retrospectively analyzed clinical manifestations, biochemical features, and specially evaluated missed diagnoses and misdiagnoses among 144 TIO patients from Peking Union Medical College Hospital during December 1982 to December 2014.Clinical presentations of TIO mainly included bone pain, difficulty in walking, pathological fractures, muscle weakness, and height loss.TIO patients demonstrated hypophosphatemia (0.48±0.13 mmol/L), elevated serum alkaline phosphatase (277.9±152.6 U/L), reduced tubular maximum for phosphorus/glomerular filtration rate (0.39±0.14) and markedly elevated serum fibroblast growth factor 23 (FGF23) (median level 302.9 pg/mL).The average time from onset to a correct diagnosis was 2.9±2.3 years while the mean duration from onset to tumor resection was 5.4±4.2 years.The initial misdiagnosis rate was 95.1% (137/144) and 240 case-times of misdiagnoses occurred among the 144 cases.The most frequent misdiagnoses were intervertebral disc herniation, spondyloarthritis (including ankylosing spondylitis) and osteoporosis.A total of 43.1% (62/144) cases with hypophosphatemia presented on their laboratory sheets were neglected and missed diagnosed.Our study showed that TIO was frequently misdiagnosed and missed diagnosed due to its rarity, insidious onset, nonspecific clinical manifestations and clinicians’ poor recognition.It is necessary to test serum phosphorus in patients with musculoskeletal symptoms and difficulty in walking.The measurement of serum FGF23 is rather valuable.Once hypophosphatemia is discovered, TIO should be suspected and it is highly recommended to search for tumors and perform curative surgery.

【 授权许可】

Unknown