Tumor-induced osteomalacia: experience from a South American academic center

González, Gilberto; Baudrand, René; Sepúlveda, Magda; Vucetich, Nevenka; Guarda, Francisco J; Contreras, Oscar; Villa, Antonella; Salech, Felipe; Toro, Luis; Michea, Luis; Florenzano, Pablo

doi:10.1007/s00198-017-4007-2

Cited by 27 publications

(23 citation statements)

References 33 publications

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“…Mean age at diagnosis is 42 years without gender predilection . A diagnostic delay of many years is common . Cardinal symptoms are pain, weakness and gait difficulties .…”

Section: Discussionmentioning

confidence: 99%

Positive HLA‐B27 and sacroiliitis is not always spondyloarthritis

et al. 2019

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A 36-year-old man was treated for several years with multiple agents for ankylosing spondylitis based on positive human leukocyte antigen-B27 and sacroiliitis. He was also diagnosed with osteoporosis and hypophosphatemia. Over these years, from being an avid runner, he became dependent on a walker for ambulation. The lack of treatment response and the low phosphorus were clues that eventually led to a diagnosis of tumor-induced osteomalacia. This case discusses the importance of not solely relying on genetic markers and sacroiliitis for diagnosing ankylosing spondylitis as other conditions can cause similar presentations. K E Y W O R D Sankylosing spondylitis, hypophosphatemia, osteomalacia, sacroiliitis, tumor-induced osteomalacia | CON CLUS IONThis case serves to highlight several important points. HLA-B27 positivity even in the setting of back pain is not diagnostic for SpA.Sacroiliitis is not pathognomonic for SpA and can be seen in many conditions. Low bone density on DXA does not differentiate between OM and osteoporosis. As rheumatologists, HLA-B27 and sacroiliitis are very important clues when evaluating young males with back pain, but the overall picture and lack of treatment response should prompt exploration for other clues such as low phosphorus. AUTH O R CO NTR I B UTI O N SFawad Aslam and April Chang-Miller contributed to the conception, design, data acquisition and write-up of the manuscript. Spencer Chivers and Krupa Doshi were involved in data acquisition, write-up and final approval of the manuscript. O RCI D Fawad Aslamhttps://orcid.org/0000-0001-6016-6123

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“…Mean age at diagnosis is 42 years without gender predilection . A diagnostic delay of many years is common . Cardinal symptoms are pain, weakness and gait difficulties .…”

Section: Discussionmentioning

confidence: 99%

Positive HLA‐B27 and sacroiliitis is not always spondyloarthritis

et al. 2019

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“…Although most reported patients with TIO have clearly elevated serum FGF23 levels, fourteen TIO patients with normal FGF23 levels have been described in literature previously [17–25]. In these patients another phosphaturic hormone could be involved or FGF23 levels could have been misinterpreted due to the use of incorrect reference values and/or FGF23 assays.…”

Section: Discussionmentioning

confidence: 99%

“…Intact FGF23 (iFGF23) is degraded by proteolytic cleavage into inactive N- and C-terminal fragments [26, 25]. Since iFGF23 is rapidly degraded ex-vivo, special sampling procedures are required with the use of protease inhibitors [27].…”

Section: Discussionmentioning

confidence: 99%

Yield of diagnostic tests in unexplained renal hypophosphatemia: a case series

et al. 2018

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BackgroundIsolated renal hypophosphatemia may be inherited or acquired. An increasing number of patients with unexplained renal hypophosphatemia is being referred to our clinics, but the optimal diagnostic work-up is not known. Therefore, the aim of this study was to assess the diagnostic yield in these patients.MethodsWe retrospectively evaluated all patients who were referred because of unexplained isolated renal hypophosphatemia to two academic tertiary referral centers in The Netherlands in the period of 2013–2017.ResultsWe evaluated 17 patients. In five female patients renal hypophosphatemia could be attributed to the use of oral contraceptives. The other 12 patients had a median age of 48 years (10 males). There were no other signs of tubulopathy and none of the patients used drugs known to be associated with hypophosphatemia. FGF23 levels were above normal (> 125 RU/ml) in 2/12 patients. Genetic testing, performed in all patients, did not identify a mutation in genes known to be associated with renal phosphate wasting. A scan with a radiolabeled somatostatin analogue was performed in 8 patients. In one patient, with an FGF23 level of 110 RU/ml, an increased uptake of the somatostatin analog was observed due to tumor induced osteomalacia (TIO).ConclusionsOral contraceptive use is an important but under-recognized cause of renal hypophosphatemia. The cause of isolated renal hypophosphatemia remained unexplained in the majority of other patients despite extensive and expensive additional investigations. The pre-test probability for tumor-induced osteomalacia or inherited renal hypophosphatemia in a patient with aspecific complaints and a normal FGF23 level is low. Further research is needed to investigate which patients should be screened for TIO. At present we suggest to perform somatostatin scans only in patients with severe complaints, elevated FGF23 levels, or progressive disease.

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“…In der Literatur finden sich derzeit ca. 500 Fallberichte zur Tumor induzierten Osteomalazie (TIO, auch onkogene hypophosphatämische Osteomalazie (OHO) genannt) (26). Diese "Phospaturic Mesenchymal Tumor (mixed connective tissue variant) PMT-MCT" sind meist benigne, selten maligne kleine Tumore unterschiedlichster Erscheinungsbilder, welche FGF23 produzieren (27).…”

Section: Erworbene Hypophosphatämieunclassified

Phosphor und Knochen

Zwettler¹

2018

Osteologie

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ZusammenfassungBereits im 19. Jahrhundert wurde durch Kiefernekrosen, die bei Arbeitern in Streichholzfabriken auftraten, evident, dass Phosphor eine Wirkung auf den Knochen hat. Seit kurzem wissen wir, dass der Phosphorstoffwechsel von einem in Knochenzellen produzierten Hormon, dem Fibroblast-Growth-Factor 23 (FGF23) gesteuert wird.Da die westliche Ernährung sehr viel Phosphat enthält, besteht die wissenschaftlich noch nicht eindeutig geklärte Sorge, dass ein Zuviel dem Knochen schaden könnte. Eine ausreichende Kalziumzufuhr scheint jedoch den potentiellen Schaden zu verhindern.Was ein Zuviel oder Zuwenig an frei verfügbarem Phosphor bedeutet, sehen wir bei genetischen oder erworbenen Phosphatstoffwechselerkrankungen: Ektope Kalzifikationen und Gelenksschmerzen bei Hyperphosphatämie und Kleinwuchs, Rachitis und Knochenschmerzen bei Hypophosphatämien. Bei unklaren Knochenschmerzen, einer Gangstörung oder Insuffizienzfrakturen muss immer eine Hypophosphatämie ausgeschlossen werden, da es erworbene Erkrankungen mit FGF23 Überschuss gibt und auch bestimmte genetische Formen erst im Erwachsenenalter auftreten können. Diagnosestellung und die Einleitung entsprechender Therapiemaßnahmen beeinflussen wesentlich die Prognose.

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Tumor-induced osteomalacia: experience from a South American academic center

Cited by 27 publications

References 33 publications

Positive HLA‐B27 and sacroiliitis is not always spondyloarthritis

Positive HLA‐B27 and sacroiliitis is not always spondyloarthritis

Yield of diagnostic tests in unexplained renal hypophosphatemia: a case series

Phosphor und Knochen

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