Phosphopenic form of osteomalacia in a patient with FGF23 producing tumor
https://doi.org/10.47360/1995-4484-2022-249-255
Abstract
Oncogenic osteomalacia is an orphan disease caused by the overproduction of fibroblast growth factor 23 (FGF23) in tumors, which leads to impaired bone matrix mineralization. Typical laboratory changes are hypophosphatemia, increased alkaline phosphatase, hyperphosphaturia, and decreased tubular phosphate reabsorption index. Surgery is the treatment of choice to eliminate an excessive production of FGF23. If surgical intervention is ineffective or impossible, preparations of phosphorus, calcium, vitamin D are prescribed. We present a clinical case of the stage-bystage diagnosis and treatment of the patient with chronic pain syndrome in the bones and multiple fractures.
About the Authors
A. S. Pushkareva
The National Medical Research Center for Endocrinology
Russian Federation
Competing Interests:
Russian Federation
Anastasia S. Pushkareva
117036, Moscow, Dm. Ulyanova str., 11
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с публикацией настоящей статьи
E. E. Bibik
The National Medical Research Center for Endocrinology
Russian Federation
Competing Interests:
Russian Federation
Ekaterina E. Bibik
117036, Moscow, Dm. Ulyanova str., 11
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с публикацией настоящей статьи
A. K. Eremkina
The National Medical Research Center for Endocrinology
Russian Federation
Competing Interests:
Russian Federation
Anna K. Eremkina
117036, Moscow, Dm. Ulyanova str., 11
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с публикацией настоящей статьи
M. V. Degtyarev
The National Medical Research Center for Endocrinology
Russian Federation
Competing Interests:
Russian Federation
Mikhail V. Degtyarev
117036, Moscow, Dm. Ulyanova str., 11
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с публикацией настоящей статьи
N. G. Mokrysheva
The National Medical Research Center for Endocrinology
Russian Federation
Competing Interests:
Russian Federation
Natalia G. Mokrysheva
117036, Moscow, Dm. Ulyanova str., 11
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с публикацией настоящей статьи
References
1. Bhatt AA, Mathews SS, Kumari A, Paul TV. Tumour-induced osteomalacia. Hong Kong Med J. 2014;20(4):350.e1-2. doi: 10.12809/hkmj133981
2. Popova IYu, Grebennikova TA, Tiulpakov AN, Kulikova KS, Rozhinskaya LY, Belaya ZE. Rare genetic diseases of the bone tissue: the case of a family with osteogenesis imperfecta and X-linked hypophosphataemia. Osteoporosis and Bone Diseases. 2018;21(1):2833 (In Russ.). doi: 10.14341/osteo9756
3. Bowe AE, Finnegan R, Jan de Beur SM, Cho J, Levine MA, Kumar R, et al. FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. Biochem Biophys Res Commun. 2001;284(4):977-981. doi: 10.1006/bbrc.2001.5084
4. Florenzano P, Hartley IR, Jimenez M, Roszko K, Gafni RI, Collins MT. Tumor-induced osteomalacia. Calcif Tissue Int. 2021;108(1):128-142. doi: 10.1007/s00223-020-00691-6
5. Bulycheva IV, Bliznyukov OP, Rodionova SS, Buklemishev YE, Belaya ZhE. Oncogenic osteomalacia/phosphaturic mesenchymal tumor. Clinical observation. Literature review. Bone and Soft Tissue Sarcomas, Tumors of the Skin. 2019;1:28-32 (In Russ.).
6. Eremkina AK, Mirnaya SS, Gorbacheva AM, Panevin TS, Voronkova IA, Mokrysheva NG. The case of oncogenic hypophosphatemic osteomalacia. Obesity and Metabolism. 2020;17(2):220-227 (In Russ.). doi: 10.14341/omet12472
7. Grebennikova TA, Umiarova DS, Slashchuk KY, Degtyarev MV, Rodionova SS, Rumyantsev PO, et al. Tumor-induced osteomalacia: A clinical case report. Osteoporosis and Bone Diseases. 2018;21(4):24-28 (In Russ.). doi: 10.14341/osteo10264
8. Chen DW, Clines GA, Collins MT, Douyon L, Choksi PU. A rare cause of atraumatic fractures: Case series of four patients with tumor-induced osteomalacia. Clin Diabetes Endocrinol. 2020;6:12. doi: 10.1186/s40842-020-00101-8
9. Bove-Fenderson E, Mannstadt M. Hypocalcemic disorders. Best Pract Res Clin Endocrinol Metab. 2018;32(5):639-656. doi: 10.1016/j.beem.2018.05.006
10. Amanzadeh J, Reilly RF Jr. Hypophosphatemia: An evidencebased approach to its clinical consequences and management. Nat Clin Pract Nephrol. 2006;2(3):136-148. doi: 10.1038/ncpneph0124
11. Avrunin AS. Osteoporosis and osteomalacia – clinical and diagnostic problems. Traumatology and Orthopedics of Russia. 2014;20(4):68-76 (In Russ.).
12. Feng J, Jiang Y, Wang O, Li M, Xing X, Huo L, et al. The diagnostic dilemma of tumor induced osteomalacia: A retrospective analysis of 144 cases. Endocr J. 2017;64(7):675683. doi: 10.1507/endocrj.EJ16-0587
13. Paul J, Cherian KE, Kapoor N, Paul TV. Treating osteoporosis: A near miss in an unusual case of FGF-23 mediated bone loss. BMJ Case Rep. 2019;12(3):e228375. doi: 10.1136/bcr-2018-228375
14. Betlachin A, Grock S, Ahmadi S. Severe hypophosphatemia and elevated FGF23 level following zoledronic acid infusion. Bone Miner Metab. 2021;5(1):220-221.
15. Rodionova SS, Snetkov AI, Akinshina AD, Bulycheva IV, Torgashin AN, Grebennikova TA, et al. Hypophosphatemic osteomalacia induced by FGF23-secreting tumor of the left femur. Nauchcno-Prakticheskaya Revmatologia = Rheumatology Science and Practice. 2019;57(6):708-712 (In Russ.). doi: 10.14412/1995-4484-2019-708-712
16. Sundaram M, McCarthy EF. Oncogenic osteomalacia. Skeletal Radiol. 2000;29(3):117-124. doi: 10.1007/s002560050581
17. Kumar S, Diamond T. Lessons learnt from delayed diagnosis of FGF-23-producing tumour-induced osteomalacia and postoperative hungry bone syndrome. Bone Rep. 2020;12:100276. doi: 10.1016/j.bonr.2020.100276
18. Jadhav S, Kasaliwal R, Lele V, Rangarajan V, Chandra P, Shah H, et al. Functional imaging in primary tumour-induced osteomalacia: Relative performance of FDG PET/CT vs somatostatin receptor-based functional scans: a series of nine patients. Clin Endocrinol (Oxf). 2014;81(1):31-37. doi: 10.1111/cen.12426
19. Li X, Jiang Y, Huo L, Wu H, Liu Y, Jin J, et al. Nonremission and recurrent tumor-induced osteomalacia: A retrospective study. J Bone Miner Res. 2020;35(3):469-477. doi: 10.1002/jbmr.3903
20. Lamb YN. Burosumab: First global approval. Drugs. 2018; 78(6):707-714. doi: 10.1007/s40265-018-0905-7
Review
For citations:
Pushkareva A.S., Bibik E.E., Eremkina A.K., Degtyarev M.V., Mokrysheva N.G. Phosphopenic form of osteomalacia in a patient with FGF23 producing tumor. Rheumatology Science and Practice. 2022;60(2):249-255. (In Russ.) https://doi.org/10.47360/1995-4484-2022-249-255
Views:
600
Email this article 