Tumor-induced osteomalacia: experience from three tertiary care centers in India (original) (raw)
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Tumor-Induced Osteomalacia: A Case Report of Rare Disease and Literature review
South Asian Journal of Cancer
Background Oncogenic osteomalacia term used for tumor-induced osteomalacia (TIO) is a paraneoplastic syndrome of abnormal phosphate metabolism secondary to ectopic endocrine tumors. The diagnosis often becomes difficult due to rarity of occurrence and deficient literature. The reconstruction following resection has its own technical difficulties, which are addressed in this article. Presentation of Case A 39-year-old female presented with pain in bilateral lower limbs and difficulty in mobilizing. The patient had unexplained hypophosphatemia which was diagnosed due to tumor (arising ectopically in greater trochanter), inducing osteomalacia. She was managed successfully with excision of tumor and reconstruction. The biochemical parameters improved drastically within 5 days and fracture healed in 6 weeks' time. Conclusion TIO is a debilitating disease with significant morbidity due to prolonged onset to diagnosis interval and difficulty in localizing the causative tumor. So thorou...
Endokrynologia Polska
The clinical manifestation of oncogenic osteomalacia includes bone pain, pathological fractures, general fatigue and muscle weakness. Such unspecific symptoms hinder the establishment of a proper diagnosis which very often requires long-lasting investigations with many diagnostic imaging methods. Here, we discuss difficulties in the diagnosis of oncogenic osteomalacia using the example of our own clinical case: a 56 year-old woman with a history of pain in the left hip and two years of walking difficulties. A plain radiograph and CT scan revealed pathological fractures. Multiple myeloma, primary hyperparathyroidism and bone metastatic disease were excluded. Routine laboratory tests showed elevated alkaline phosphatase and a mild degree of hypophosphatemia. CT and MR imaging confirmed the presence of a pathological mass in the thorax. Tumour excision and histopathological test results revealed the diagnosis of a phosphaturic mesenchymal tumour. Our case, showing the clinical course o...
Oncogenic osteomalacia: loss of hypophosphatemia might be the key to avoid misdiagnosis
2012
Diagnosing oncogenic osteomalacia is still a challenge. The disorder is characterized by osteomalacia caused by renal phosphate wasting and low serum concentration of 1,25-dihydroxyvitamin D 3 occurring in the presence of a tumor that produces high levels of fibroblast growth factor 23. However, it is possible that the disease is much more misdiagnosed than rare. We present the case of a 42-year-old man with a long-term history of undiagnosed progressive muscle weakness. His laboratory results mainly showed low serum phosphate. Surgical removal of a nasal hemangiopericytoma that had been diagnosed five years earlier, brought him to a symptom-free condition. 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.
Identifying the culprit lesion in tumor induced hypophosphatemia, the solution of a clinical enigma
Endocrine, 2016
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.
Tumor-induced osteomalacia: a case report
Arquivos Brasileiros de Endocrinologia & Metabologia, 2009
Tumor-induced osteomalacia (TIO) is a rare paraneoplasic syndrome with overproduction of fibroblast growth factor 23 as a phosphaturic agent, leading to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low levels of 1,25-dihydroxyvitamin D. Diagnosis of this disease is often challenging. The following case report described a middle-aged man with symptoms of bone pain and severe muscle weakness, who was found to have TIO. The tumor responsible for the symptoms was localized on his thigh and its resection resulted in normalization of blood chemistry and complaints. Subsequent microscopic examination revealed a phosphaturic mesenchymal tumor, mixed connective tissue type. The authors reinforce the importance of recognition of this disease, as severe disability and even death can be avoided with the surgical removal of the causative tumor.
Current Oncology, 2009
Oncogenic osteomalacia is a rare metabolic bone disease characterized by phosphate leakage from the kidney and subsequent hypophosphatemia. It is caused by a phosphaturic factor produced by certain tumours. Removal of such tumours can completely cure the condition. Here, we report the case of a patient who was crippled with oncogenic osteomalacia. Extensive study revealed a tumour deeply located in the pelvis; removal of the tumour resulted in complete recovery. The tumour was identified as a mesenchymal tumour (mixed connective-tissue variant). The diagnostic evaluation, differential diagnosis, and treatment are discussed.
Tumor-Induced Osteomalacia: Clinical and Basic Studies
Journal of Bone and Mineral Research, 1997
A patient with classic clinical and biochemical features of tumor-induced osteomalacia (hypophosphatemia, phosphaturia, and undetectable serum concentrations of 1,25-dihydroxyvitamin D [1,25(OH) 2 D]) was studied before and after resection of a benign extraskeletal chondroma from the plantar surface of the foot. Presurgical laboratory evaluation was notable for normal serum concentrations of calcium, intact parathyroid hormone (PTH), parathyroid hormone-related protein (PTHrP), and osteocalcin, increased serum alkaline phosphatase activity, and frankly elevated urinary cyclic adenosine monophosphate (cAMP) and pyridinium cross-link excretion. Quantitative histomorphometry showed severe osteomalacia and deep erosions of the cancellous surface by active osteoclasts. After resection, serum 1,25(OH) 2 D normalized within 24 h, while renal tubular phosphorus reabsorption and serum phosphorus did not normalize until days 2 and 3, respectively; serum Ca declined slightly, and serum intact PTH, osteocalcin, and urinary pyridinium cross-link excretion increased dramatically. Urinary cAMP excretion declined immediately after resection and then began to increase concomitant with the increase in serum intact PTH. A second bone biopsy taken 3 months after resection demonstrated complete resolution of the osteomalacia, increased mineral apposition rate (1.09 /day), resorption surface (9.2%), mineralizing surface (71%), and bone formation rate (0.83 mm 3 /mm 2 /day), and marked decreases in cancellous bone volume (13.1%) and trabecular connectivity compared with the first biopsy. Tumor extracts did not affect phosphate transport in renal epithelial cell lines or 1␣-hydroxylase activity in a myelomonocytic cell line. The patient's course suggests that the abnormal 1,25(OH) 2 D and phosphorus metabolism is due to a tumor product that may be acting via stimulation of adenylate cyclase activity. Increased bone resorption prior to surgical resection suggests that the tumor may also produce an osteoclast activator. The rise in resorption surface and pyridinium cross-link excretion, increase in serum osteocalcin and bone mineralization, normalization of osteoid width, and fall in cancellous bone volume after resection are consistent with healing of osteomalacia by rapid remodeling. (J Bone Miner Res 1997; 12:1502-1511)
International journal of surgery case reports, 2016
The physical incapacitation of the oncogenic hypophosphatemic osteomalacia (OHO) can be catastrophic and can lead to deformities, metabolic and organic instability and death. The only positive outcome is through early diagnosis by the clinical suspicion. At this moment, medical center infrastructure is also a keypoint. This case report is about a 60-year old woman with multiple fractures, gradual loss of strength and muscle mass and limiting deformities in two years of evolution until the diagnostic. The lack of knowledge of this disease causes a delay in diagnosis that can bring deformities to the patient, as well as death. Is crucial that is hypothesized to carry out the necessary tests, since they are expensive and not always available. This case reinforces the importance to understand the OHO and tumoral search, once this lesion is, in most cases, imperceptible to physical examination or several imaging studies.
Diagnosis and Management of Tumor-induced Osteomalacia: Perspectives From Clinical Experience
Journal of the Endocrine Society, 2021
Purpose Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome of abnormal phosphate and vitamin D metabolism caused by typically small endocrine tumors that secrete fibroblast growth factor 23 (FGF23). TIO is characterized clinically by progressive musculoskeletal pain, fatigue, proximal muscle weakness, and multiple fractures, leading to long-term disability. Misdiagnosis and delayed diagnosis are common because of the nonspecific symptoms, and several years may elapse before patients receive an accurate diagnosis and appropriate treatment. Thus, it is vital that awareness of the appropriate recognition and management of TIO is increased among healthcare professionals who may encounter patients with suspected TIO. Methods A roundtable meeting was held on 10 January 2020 in Dallas, TX, USA, to gather perspectives on the diagnosis and treatment of TIO. The following topics were considered: clinical presentation, patient history, differential diagnosis, laboratory assessm...