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Oncogenous Osteomalacia

Oncogenous Rickets


Presentation

  • Presentation A middle aged lady presented with progressive generalised bone pain for 6 years and weakness for 2 years. At presentation she required support for walking.[radiopaedia.org]
  • In contrast, osteomalacia of neurofibromatosis is very rare, presents in middle age, and is associated with marked disturbance of phosphate metabolism. The patient presented here had no skeletal symptoms till the age of 40 years.[ijri.org]
  • Results: A 48-year-old, wheelchair-dependent man presented to a tertiary care academic hospital with progressive back pain and diffuse weakness.[journals.aace.com]
  • Case report A 21-year-old man presented for evaluation of a pathological femur fracture.[touchendocrinology.com]
  • Pharmacological therapy of sarcopenia: past, present and future Iolascon G., Moretti A., de Sire A., Liguori S., Toro G., Gimigliano F.[ccmbm.com]
Constitutional Symptom
  • Her constitutional symptoms have improved, but the fractures have shown no radiological signs of healing in the last three months of follow-up.[ijri.org]
Lower Extremity Pain
  • A 46-year-old man was examined for chronic hip and lower extremity pain that had not been relieved by nonsteroidal anti-inflammatory drugs or steroids. A bone scan revealed multiple foci of activity.[insights.ovid.com]
Limb Pain
  • Patient 2 A 65-year-old male was suffering from diffuse bilateral lower limb pain for the past 15 years and bilateral lower limb weakness for the past 8 months.[ijaweb.org]
Camping
  • […] al. [8] hypothesize that putative melatonin deficiency in cases of neurofibromatosis-1 may play a role in the pathogenesis of hyperphosphaturia, by decreasing the sodium-phosphate cotransport, increasing the level of cyclic adenosine monophosphate (cAMP[ijri.org]
Anorexia
  • Patients characteristically present with joint deformities, waddling gait, bone pain, muscle weakness, anorexia, fatigue, and occasionally long-bone fractures.[ijri.org]
Hypertension
  • We report a case of a gentleman who presented in his ninth decade with deteriorating cognition, proximal muscle weakness and reduced mobility on a background of hypertension, type 2 diabetes with associated retinopathy and stage 3 Chronic Kidney Disease[endocrine-abstracts.org]
Thrombosis
  • In the PACU, adequate analgesia was provided, prevention of deep venous thrombosis ensured and close monitoring for hypo- and hyper-calcaemia was done.[ijaweb.org]
Joint Deformity
  • Patients characteristically present with joint deformities, waddling gait, bone pain, muscle weakness, anorexia, fatigue, and occasionally long-bone fractures.[ijri.org]
Waddling Gait
  • Patients characteristically present with joint deformities, waddling gait, bone pain, muscle weakness, anorexia, fatigue, and occasionally long-bone fractures.[ijri.org]

Workup

  • Workup included vitamin D deficiency/resistance, renal tubular acidosis and malabsorption all of which were negative. To evaluated for a paraneoplastic cause and blood pool scintigraphy was done.[radiopaedia.org]
  • When a tumour is surgically unresectable or not localised after an extensive workup, oral combined with phosphate treatment, calcium, and calcitriol is recommended, along with phosphate monitoring, a treatment similar to that used in the genetics forms[touchendocrinology.com]
  • It is usually very difficult to locate the tumor site, and workup requires numerous imaging procedures and modalities (5). Even with modern techniques of molecular imaging, it is not easy to both locate and identify these tumors.[scielo.br]

Treatment

  • Management and treatment Definitive treatment is with surgical resection of the tumor. If the tumor cannot be found or removed, medical treatment involves the supplementation of phosphate and active vitamin D (e.g. alfacalcidol).[orpha.net]
  • The electrolytic disturbances were exacerbated after the administration of bisphosphonates in the context of her oncological treatment.[eprints.soton.ac.uk]
  • The treatment of TIO is resection of the tumour and the symptoms and phosphorus levels return to normal. If the tumour is not found, usually we must continue with medical treatment with phosphorus supplementation and vitamin D.[touchendocrinology.com]
  • If the tumor cannot be located, treatment with calcitriol (1-3 µg/day) and phosphorus (1-4 g/day in divided doses) is instituted. Tumors which secrete somatostatin receptors may respond to treatment with octreotide.[en.wikipedia.org]

Prognosis

  • Prognosis Excellent recovery after complete tumor excision with complete resolution of symptoms and biochemical abnormalities. Long term monitoring is required as local recurrence and metastases have been reported, even if rarely.[orpha.net]
  • Overall, the tumour prognosis is good, however, in our patient, due to the diagnosis of sarcoma, close follow-up will be mandatory.[touchendocrinology.com]

Etiology

  • Etiology This syndrome is caused by phosphatonin secretion by the causative tumor.[orpha.net]
  • Even though knowing the underlying etiology would explain his osteomalacia, the patient sought medical help from countless physicians for five consecutive years, and only after adequate treatment a rewarding outcome was achieved.[scielo.br]
  • Excessive paraneoplastic production of phosphatonin is thought to be involved in the etiology of tumor-induced osteomalacia, whereas impaired degradation and processing of phosphatonin due to endopeptidase mutations (PHEX gene: phosphate-regulating gene[appliedradiology.com]

Epidemiology

  • Introduction Definition paraneoplastic syndrome of renal phosphate wasting caused by bone tumor or soft tissue tumor Epidemiology demographics age bracket age of onset is late childhood to early adulthood Pathophysiology the tumor secretes a humoral factor[orthobullets.com]
  • Summary Epidemiology The prevalence of the disease is not known. Since the association between phosphate reabsorption and tumor was first made, approximately 400 cases of oncogenic osteomalacia have been reported in the literature.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: A perPHEXing problem. J Clin Endocrinol Metab 2001;86:494-6. 10. Strewler GJ.[ijri.org]
  • Pathophysiology It has been clear for a long time that a humoral substance caused the osteomalacia, because the bone disease resolves when the tumors are resected.[courses.washington.edu]
  • Objective: To present a rare case of oncogenic osteomalacia, describe the breadth of potential clinical symptoms, and review the underlying pathophysiology of this disorder.[journals.aace.com]
  • Introduction Definition paraneoplastic syndrome of renal phosphate wasting caused by bone tumor or soft tissue tumor Epidemiology demographics age bracket age of onset is late childhood to early adulthood Pathophysiology the tumor secretes a humoral factor[orthobullets.com]
  • Pathophysiologically, TIO is caused by tumours that secrete fibroblast growth factor 23 (FGF-23), a phosphaturic circulating hormone.[touchendocrinology.com]

Prevention

  • In the PACU, adequate analgesia was provided, prevention of deep venous thrombosis ensured and close monitoring for hypo- and hyper-calcaemia was done.[ijaweb.org]

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