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Hong Kong Medical Journal = Xianggang... Aug 2014
Topics: Adult; Female; Humans; Hypophosphatemia; Osteomalacia; Soft Tissue Neoplasms
PubMed: 25104013
DOI: 10.12809/hkmj133981 -
Journal of Medical Case Reports Jan 2022Tumor-induced osteomalacia is a rare, acquired paraneoplastic syndrome, including hypophosphatemia, high serum alkaline phosphatase, reduced active vitamin D, suboptimal...
BACKGROUND
Tumor-induced osteomalacia is a rare, acquired paraneoplastic syndrome, including hypophosphatemia, high serum alkaline phosphatase, reduced active vitamin D, suboptimal bone mineral density, bone pain, fragility fractures, and muscle weakness.
CASE PRESENTATION
We report a case of 74-year-old male of mixed ancestry with hypophosphatemia resistant to treatment despite optimal compliance, associated with profound reduction of bone mineral density and multiple nontraumatic fractures, including bilateral rib fractures, lower-thoracic (T11, T12) vertebrae, and two fractures involving the surgical and anatomical neck of the right humerus. We discuss an approach to identifying the underlying cause of hypophosphatemia associated with fragility fractures, and options for management of this rare condition.
CONCLUSION
Although rare, tumor-induced osteomalacia can be diagnosed if a logical stepwise approach is implemented. Surgery could be curative if the tumor is properly located and is resectable.
Topics: Aged; Fibroblast Growth Factors; Humans; Hypophosphatemia; Male; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes
PubMed: 35016725
DOI: 10.1186/s13256-021-03220-7 -
Cleveland Clinic Journal of Medicine Feb 2004Antiepileptic drugs (AEDs) are associated with bone disease. Early reports found rickets in children and osteomalacia in adults, but those reports were primarily in... (Review)
Review
Antiepileptic drugs (AEDs) are associated with bone disease. Early reports found rickets in children and osteomalacia in adults, but those reports were primarily in institutionalized persons. Studies in ambulatory adults and children taking AEDs do not reveal rickets or osteomalacia but do report abnormalities in biochemical indexes of bone mineral metabolism and density. In addition, fracture rates are increased in AED-treated patients. AEDs that induce the cytochrome P450 enzyme system are most commonly associated with abnormalities in bone. Emerging data suggest that valproate, an enzyme inhibitor, may also affect bone, and there is limited information on the newer AEDs. Several theories on the mechanism of AED-associated bone disease have been proposed, but no single one explains all the reported findings. Identifying AED-treated patients who are at risk for or have bone disease is important, as multiple therapies are available.
Topics: Adult; Anticonvulsants; Child; Fractures, Bone; Humans; Osteogenesis; Osteomalacia; Osteoporosis; Rickets
PubMed: 15379299
DOI: 10.3949/ccjm.71.suppl_2.s42 -
Osteoporosis International : a Journal... Sep 2022This study reviews publications to describe the signs, symptoms and impact of tumour-induced osteomalacia (TIO) on patients' burden of disease. TIO is associated with a... (Review)
Review
UNLABELLED
This study reviews publications to describe the signs, symptoms and impact of tumour-induced osteomalacia (TIO) on patients' burden of disease. TIO is associated with a spectrum of signs and symptoms imposing a significant clinical burden, but the psychosocial impact of this rare disease has been poorly researched so far.
INTRODUCTION
To describe the signs, symptoms and impacts of tumour-induced osteomalacia (TIO) and summarise the state of research on the burden of disease of this ultra-rare condition.
METHODS
A targeted literature review was conducted in PubMed using pre-defined search terms. Relevant articles published between 1980 and 2021 were screened for inclusion. Seventy records were selected for analysis. Data were extracted and grouped into categories and sub-categories to identify recurrent signs, symptoms and impacts of TIO and describe the burden on patients. Chord diagrams were created to analyse the relationships between different TIO outcomes and characterise the presentation of TIO.
RESULTS
Although the number of articles on TIO published have been increasing over the past 20 years, most studies were case reports and case series (n = 65/70) and only few were studies with higher quality of evidence (n = 5/70). Most articles were based on data reported by clinicians (n = 67/70). Patients with TIO experienced a combination of outcomes including chronic pain, weakness, skeletal-related manifestations and limitations in mobility. Only a few studies (n = 2/70) analysed the burden of TIO on the emotional wellbeing and on the work life of the patient.
CONCLUSION
Patients with TIO present with a spectrum of signs and symptoms that impose a significant burden. The impact on the psychosocial wellbeing of patients should be further investigated, as this has been poorly researched so far. Studies with high quality of evidence should be designed to further the understanding of the burden of disease of TIO from the patient's perspective.
Topics: Cost of Illness; Fibroblast Growth Factors; Humans; Hypophosphatemia; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes
PubMed: 35643939
DOI: 10.1007/s00198-022-06432-9 -
BMJ Case Reports Jul 2019A 56-year-old man was referred with left-sided hip pain. MRI scans demonstrated an undisplaced stress fracture in the femoral neck and subchondral oedema within the...
A 56-year-old man was referred with left-sided hip pain. MRI scans demonstrated an undisplaced stress fracture in the femoral neck and subchondral oedema within the femoral head. Bone densitometry showed T-scores of -2.0 at the spine, -3.5 at the femoral neck and -2.4 for the total hip. Laboratory tests revealed 25-hydroxyvitamin D <10 nmol/L. He was prescribed a 10-day course of calciferol 1.25 mg (50 000 IU)/day and started on calcium carbonate 1.25 g twice daily. Following the correction of vitamin D deficiency, his symptoms resolved. A striking feature of this patient was the complete reversal of 'osteoporosis' within 14 months with vitamin D and calcium supplementation. Bone mineral densities (BMDs) increased by 19.5% and 33.4% at the spine and hip, respectively. Such changes are never seen with conventional pharmacological management of osteoporosis. Vitamin D deficiency should be considered as a cause for reduced BMD in people with risk factors.
Topics: Aged; Bone Density; Bone Density Conservation Agents; Calcifediol; Femur Neck; Fractures, Stress; Humans; Magnetic Resonance Imaging; Male; Osteomalacia; Treatment Outcome; Vitamin D; Vitamin D Deficiency
PubMed: 31289164
DOI: 10.1136/bcr-2019-229657 -
Bone Jun 2013Although recent studies have established that osteocytes function as secretory cells that regulate phosphate metabolism, the biomolecular mechanism(s) underlying these... (Review)
Review
Although recent studies have established that osteocytes function as secretory cells that regulate phosphate metabolism, the biomolecular mechanism(s) underlying these effects remain incompletely defined. However, investigations focusing on the pathogenesis of X-linked hypophosphatemia (XLH), autosomal dominant hypophosphatemic rickets (ADHR), and autosomal recessive hypophosphatemic rickets (ARHR), heritable disorders characterized by abnormal renal phosphate wasting and bone mineralization, have clearly implicated FGF23 as a central factor in osteocytes underlying renal phosphate wasting, documented new molecular pathways regulating FGF23 production, and revealed complementary abnormalities in osteocytes that regulate bone mineralization. The seminal observations leading to these discoveries were the following: 1) mutations in FGF23 cause ADHR by limiting cleavage of the bioactive intact molecule, at a subtilisin-like protein convertase (SPC) site, resulting in increased circulating FGF23 levels and hypophosphatemia; 2) mutations in DMP1 cause ARHR, not only by increasing serum FGF23, albeit by enhanced production and not limited cleavage, but also by limiting production of the active DMP1 component, the C-terminal fragment, resulting in dysregulated production of DKK1 and β-catenin, which contributes to impaired bone mineralization; and 3) mutations in PHEX cause XLH both by altering FGF23 proteolysis and production and causing dysregulated production of DKK1 and β-catenin, similar to abnormalities in ADHR and ARHR, but secondary to different central pathophysiological events. These discoveries indicate that ADHR, XLH, and ARHR represent three related heritable hypophosphatemic diseases that arise from mutations in, or dysregulation of, a single common gene product, FGF23 and, in ARHR and XLH, complimentary DMP1 and PHEX directed events that contribute to abnormal bone mineralization.
Topics: Animals; Calcification, Physiologic; Fibroblast Growth Factor-23; Homeostasis; Humans; Osteocytes; Osteomalacia; Phosphates; Rickets
PubMed: 23403405
DOI: 10.1016/j.bone.2013.01.046 -
Journal of Cancer Research and... 2009Oncogenous osteomalacia is a rare paraneoplastic renal phosphaturic condition, often associated with highly vascular benign mesenchymal tumors. We report a case of a...
Oncogenous osteomalacia is a rare paraneoplastic renal phosphaturic condition, often associated with highly vascular benign mesenchymal tumors. We report a case of a 48-year-old male who presented with debilitating osteomalacia unresponsive to standard therapy. Two years later, sinonasal hemangiopericytoma was diagnosed; the patient underwent complete surgical excision with rapid symptomatic improvement.
Topics: Hemangiopericytoma; Humans; Hypophosphatemia, Familial; Male; Middle Aged; Osteomalacia; Paraneoplastic Syndromes; Soft Tissue Neoplasms; Treatment Outcome
PubMed: 19841566
DOI: 10.4103/0973-1482.57130 -
CMAJ : Canadian Medical Association... Oct 2020
Topics: Adult; Female; Humans; Hyperparathyroidism; Imaging, Three-Dimensional; Infant, Newborn; Male; Osteomalacia; Skull; Tomography, X-Ray Computed; Vitamin D Deficiency
PubMed: 33020123
DOI: 10.1503/cmaj.200192 -
Critical Reviews in Oral Biology and... Sep 2004The last 350 years since the publication of the first medical monograph on rickets (old English term wrickken) (Glisson et al., 1651) have seen spectacular advances in... (Review)
Review
The last 350 years since the publication of the first medical monograph on rickets (old English term wrickken) (Glisson et al., 1651) have seen spectacular advances in our understanding of mineral-homeostasis. Seminal and exciting discoveries have revealed the roles of PTH, vitamin D, and calcitonin in regulating calcium and phosphate, and maintaining healthy teeth and skeleton. However, it is clear that the PTH/Vitamin D axis does not account for the entire picture, and a new bone-renal metabolic milieu has emerged, implicating a novel set of matrix proteins, hormones, and Zn-metallopeptidases. The primary defects in X-linked hypophosphatemic rickets (HYP) and autosomal-dominant hypophosphatemic rickets (ADHR) are now identified as inactivating mutations in a Zn-metalloendopeptidase (PHEX) and activating mutations in fibroblast-growth-factor-23 (FGF23), respectively. In oncogenic hypophosphatemic osteomalacia (OHO), several tumor-expressed proteins (MEPE, FGF23, and FRP-4) have emerged as candidate mediators of the bone-renal pathophysiology. This has stimulated the proposal of a global model that takes into account the remarkable similarities between the inherited diseases (HYP and ADHR) and the tumor-acquired disease OHO. In HYP, loss of PHEX function is proposed to result in an increase in uncleaved full-length FGF23 and/or inappropriate processing of MEPE. In ADHR, a mutation in FGF23 results in resistance to proteolysis by PHEX or other proteases and an increase in half-life of full-length phosphaturic FGF23. In OHO, over-expression of FGF23 and/or MEPE is proposed to result in abnormal renal-phosphate handling and mineralization. Although this model is attractive, many questions remain unanswered, suggesting a more complex picture. The following review will present a global hypothesis that attempts to explain the experimental and clinical observations in HYP, ADHR, and OHO, plus diverse mouse models that include the MEPE null mutant, HYP-PHEX transgenic mouse, and MEPE-PHEX double-null-mutant.
Topics: Animals; Calcification, Physiologic; Extracellular Matrix Proteins; Fibroblast Growth Factor-23; Fibroblast Growth Factors; Glycoproteins; Humans; Hypophosphatemia, Familial; Mice; Mice, Mutant Strains; Mutation; Osteomalacia; Osteosarcoma; PHEX Phosphate Regulating Neutral Endopeptidase; Phosphates; Phosphoproteins; Proteins; Proto-Oncogene Proteins
PubMed: 15470265
DOI: 10.1177/154411130401500503 -
The Indian Journal of Medical Research Mar 2008Studies from our center and other parts of India have drawn attention towards wide prevalence of vitamin D deficiency (VDD) in our country. VDD has been reported in all... (Review)
Review
Studies from our center and other parts of India have drawn attention towards wide prevalence of vitamin D deficiency (VDD) in our country. VDD has been reported in all age groups including toddlers, school children, pregnant women and their neonates and adult males and females residing in rural and urban India. We reviewed implications of VDD in our population based on the preliminary data available from Indian studies on skeletal health. Besides, a brief review is made on the importance of VDD in various other disorders prevalent in equivalent proportions among Indians such as type 2 diabetes mellitus (DM), cardiovascular diseases (CVD), immune competence including relation to tuberculosis, malignancy and osteoarthritis. Data from the West have also associated VDD with increased prevalence of type 2DM, CVD, autoimmune disorders, tuberculosis, prostate, breast and colon malignancy and osteoarthritis. Such association has not been studied to date in our country. Overall results of various studies conducted to date in urban and rural Indians indicate that widely prevalent VDD is functionally relevant to skeletal health including osteomalacia and rickets. However, there is a need to explore its association with osteoporosis related fractures and various other non skeletal disorders linked with VDD.
Topics: Diabetes Mellitus, Type 2; Humans; India; Osteomalacia; Prevalence; Vitamin D Deficiency
PubMed: 18497436
DOI: No ID Found