Identifying the culprit lesion in tumor induced hypophosphatemia, the solution of a clinical enigma

• Published in: Endocrine Vol. 54; no. 3; pp. 642 - 647
• Main Authors: Slot-Steenks, Mathilde M. Bruins, Hamdy, Neveen A.T., van de Sande, Michiel A.J., Vriens, Dennis, Cleven, Arjen H.G., Appelman-Dijkstra, Natasha M.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.12.2016; Springer Nature B.V
• Subjects: Clinical Management of Endocrine Diseases; Diabetes; Endocrinology; Female; Fibroblast growth factor 23; Fibroblast Growth Factors - secretion; Fibroblasts; Fractures; Growth factors; Humanities and Social Sciences; Humans; Hypophosphatemia; Hypophosphatemia - diagnostic imaging; Hypophosphatemia - etiology; Internal Medicine; Kidneys; Medicine; Medicine & Public Health; Mesenchyme; Metabolism; Middle Aged; multidisciplinary; Muscle Neoplasms - diagnostic imaging; Muscle Neoplasms - secretion; Neoplasms, Connective Tissue - diagnostic imaging; Neoplasms, Connective Tissue - etiology; Osteomalacia; Pain; Quadriceps muscle; Science; Skeleton; Vitamin D; Hypophosphatemia; Tumor-induced osteomalacia (TIO); Fibroblast growth factor 23 (FGF23)
• ISSN: 1355-008X; 1559-0100
• DOI: 10.1007/s12020-016-1092-5

Tumor-induced osteomalacia is a rare acquired metabolic bone disorder characterized by isolated renal phosphate wasting due to abnormal tumor production of fibroblast growth factor 23. We report the case of a 59 year old woman referred to our department with a long history of progressive diffuse muscle weakness and pain, generalized bone pains and multiple insufficiency fractures of heels, ankles and hips due to a hypophosphatemic osteomalacia. A fibroblast growth factor 23-producing phosphaturic mesenchymal tumor localized in the left quadriceps femoris muscle was identified 7 years after onset of symptoms. Excision of the tumor resulted in normalization of serum phosphate and fibroblast growth factor 23 levels and in complete resolution of the clinical picture with disappearance of all musculoskeletal symptoms. This case illustrates the diagnostic difficulties in establishing a diagnosis tumor-induced osteomalacia and in identifying the responsible tumor. Our case underscores the clinical need to investigate all patients with persistent musculoskeletal symptoms for hypophosphatemia. A systematic approach is of pivotal importance because early recognition and treatment of the metabolic abnormality can prevent deleterious effects of osteomalacia on the skeleton.