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Metabolic Bone Disease

Metabolic bone disease refers to a variety of disorders associated with disturbances of bone homeostasis and physiological remodeling processes. These disorders comprise osteoporosis and Paget's disease, among others.


A considerable share of MBD patients remains asymptomatic for prolonged periods of time. Here, diagnostic measures like blood sample analyses or radiography carried out for non-related reasons may yield findings consistent with MBD.

On the other hand, MBD diminishes the resistance of osseous structures and patients may present with pathological fractures. In this context, plain radiographic images are usually obtained to visualize fracture lines and displacement, to evaluate the involvement of joints and other anatomical structures. In MBD patients, such images may reveal pronounced anomalies like alterations of bone density. A general reduction or an overall increase of bone mineralization may be observed, for instance, in osteoporosis and osteopetrosis patients, respectively [6] [7]. Alternatively, changes in bone density may be restricted to determined areas. Foci of diminished bone density may be noted in images that also depict areas of enhanced mineralization, e.g., in patients suffering from Paget's disease [8]. Of note, bones of reduced mechanical resistance may succumb to acting forces without breaking. Consequently, MBD patients may present with slowly progressive skeletal deformities hindering their everyday life. Bone pain, secondary arthritis, arthralgia and reduced range of joint motion are commonly described symptoms.

Because the skeleton plays a primordial role in calcium and phosphate homeostasis, MBD patients frequently suffer from alterations of serum electrolyte levels and corresponding clinical symptoms. In otherwise asymptomatic patients, hypocalcemia, hypercalcemia, hypophosphatemia, and hyperphosphatemia may constitute first indicators of MBD.

  • A considerable share of MBD patients remains asymptomatic for prolonged periods of time. Here, diagnostic measures like blood sample analyses or radiography carried out for non-related reasons may yield findings consistent with MBD.[symptoma.com]
  • Diagnosis and monitoring of bone metabolic defects can present a major challenge as these disorders are largely asymptomatic and radiographic measures of bone mass respond slowly to changes in bone physiology.[ncbi.nlm.nih.gov]
  • Magnetic resonance imaging identified one African-American subject (3%) with bilateral asymptomatic hip osteonecrosis.[ncbi.nlm.nih.gov]
  • After 6 months, while asymptomatic, chemistries and x-rays were normal. Calcium bone index was 0.79. The bone biopsy showed mild hyperkinetic picture. At 26 months, she had a spontaneous rib fracture and bone pains in the hands and lower back.[ncbi.nlm.nih.gov]
  • Although common serological tests are available to diagnose celiac disease, the diagnosis of celiac disease is often delayed or missed because of lack of recognition as the disease presentation in adults is highly variable and may be asymptomatic.[ncbi.nlm.nih.gov]
  • The only hematological abnormality was moderate anemia, which prompted bone marrow studies leading to a diagnosis of acute lymphoblastic leukemia (ALL).[ncbi.nlm.nih.gov]
  • Fanconi's anemia or associated with a viral infection with parvo virus. Iron deficiency anemias Iron deficiency anemias lead to the formation of deformed and smaller RBCs released from the marrow.[news-medical.net]
  • Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 1985; 230: 1350-4. PMID: 2999980. 10. Donis-Keller H, et al. A genetic linkage map of the human genome.[molcom.jp]
  • He had no lymphadenopathy or organomegaly. The only hematological abnormality was moderate anemia, which prompted bone marrow studies leading to a diagnosis of acute lymphoblastic leukemia (ALL).[ncbi.nlm.nih.gov]
Sparse Hair
  • Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass.[ncbi.nlm.nih.gov]
  • In addition, six femora in three patients were subsequently lengthened by distraction osteogenesis. The mean follow-up was 60 months (18 to 120).[ncbi.nlm.nih.gov]
  • Vitamin D2 was now withdrawn for 6 months, resulting in loss of bone pain. Vitamin D2 may produce a metabolic bone disease, requiring prolonged withdrawal for improvement.[ncbi.nlm.nih.gov]


At first glance, pathological fractures may not be distinguished from traumatic lesions. Thus, it is important to carry out additional studies to confirm whether the patient suffers from an underlying disorder rendering them prone to bone fractures, particularly if there is no apparent relation between traumatic insult and fracture, or if patients repeatedly present with fractures. Anamnestic data should be considered when deciding to undertake either of the following measures:

  • Laboratory analyses of blood samples to determine serum electrolyte levels and additional parameters
  • Bone mineral density measurements [9]
  • Genetic screening to identify hereditary MBD
  • Scintigraphy [10]
  • Bone biopsy and histopathological examination of obtained specimens

This also applies in the case of other symptoms or incidental findings consistent with MBD.

Rugger-Jersey Spine
  • Renal osteodystrophy is the collection of skeletal findings observed in patients with chronic renal failure and associated secondary hyperparathyroidism and can include osteopenia, osteosclerosis, and "rugger jersey spine."[ncbi.nlm.nih.gov]
Delayed Bone Age
  • Thyroid hormone regulates endochondral bone formation; and congenital hypothyroidism, when untreated, leads to delayed bone age and absent, irregular, or fragmented distal femoral and proximal tibial epiphyses.[ncbi.nlm.nih.gov]


  • The purpose of this review is to give an overview of the pathogenesis and treatment of posttransplant MBD in children.[ncbi.nlm.nih.gov]
  • For other SECOBs, no treatment is available, or there are no data about the effect of treatment of the SECOB on BMD and fractures.[ncbi.nlm.nih.gov]
  • KEYWORDS: Bone Health ECHO; Project ECHO; emerging; osteoporosis; treatment[ncbi.nlm.nih.gov]
  • There was no significant difference in hypercalcaemia risk with vitamin D preparations compared with placebo or no specific treatment (4 studies, 103 children: RD 0.08 mg/dL, 95% CI -0.08 to 0.24).[ncbi.nlm.nih.gov]
  • Treatment of acidosis secondary to urinary diversion may be accomplished in the long term with oral alkalizing agents.[ncbi.nlm.nih.gov]


  • The use of speed of sound (SOS) ultrasonography and dual-energy X-ray absorptiometry (DXA) in the diagnosis, management, and prognosis also is discussed.[neoreviews.aappublications.org]
  • What is the prognosis for infants diagnosed with metabolic bone disease? Once diagnosis and treatment begin, babies can often live normal, healthy lives without any issues later in life.[baby.lovetoknow.com]
  • If treatment is given in a timely manner and the apporpriate husbandry changes are made and maintained, the prognosis for patients with mild MBD is very good .Reptiles affected generally respond well to treatment, and a large proportion of patients see[avianandexoticvets.com]
  • Drake and Sundeep Khosla 44 Translational Genetics of Osteoporosis: From Population Association to Individualized Prognosis 376 Bich H. Tran, Jacqueline R. Center, and Tuan V. Nguyen 45 Prevention of Falls 389 Heike A.[wiley.com]


  • The etiology of pathologic bone alterations in gastrointestinal disease is multifactorial.[ncbi.nlm.nih.gov]
  • The etiology of PN-associated MBD is poorly understood, but traditional risk factors can include malnutrition, vitamin and mineral deficiencies, toxic contaminants in the PN solution, concomitant medications, and presence of certain disease states.[ncbi.nlm.nih.gov]
  • Elevated PTH ( 70 pg/mL) was seen in 14 patients with 25OHD deficiency and low calcium ( CONCLUSION: Occult MBD is seen in a third of patients with CP and is similar irrespective of the etiology.[ncbi.nlm.nih.gov]
  • BACKGROUND: The aim was to evaluate the presence of metabolic bone disease (MBD) in patients with Crohn's disease (CD) and to identify potential etiologic factors.[ncbi.nlm.nih.gov]
  • Paget's disease (osteitis deformans), an MBD of unknown etiology characterized by focal disturbances of osteoblast and osteoclast activity.[symptoma.com]


  • Etienne.cavalier@chu.ulg.ac.be. 2 Department of Radioisotopes, CHU Brugmann, Université Libre de Bruxelles, Brussels, Belgium. 3 Department of Public Health, Epidemiology and Health Economics, University of Liège, Liège, Belgium. 4 Department of Nephrology[ncbi.nlm.nih.gov]
  • Bushinsky 103 Epidemiology of Nephrolithiasis 856 Murray J. Favus 104 Diagnosis and Evaluation of Nephrolithiasis 860 Stephen J. Knohl and Steven J. Scheinman 105 Kidney Stones in the Pediatric Patient 869 Amy E. Bobrowski and Craig B.[wiley.com]
  • […] metabolic bone disease where defective mineralization results in a large amount or unmineralized osteoid qualitative defect as opposed to a quanitative defect like osteoporosis rickets and osteomalacia are manifestations of the same pathologic process Epidemiology[orthobullets.com]
  • The epidemiology of Paget's disease of bone. Br Med Bull 1984; 40: 396-400. 10. Renier JC, et al. Current prevalence of Paget's disease of bone in a region of France (Anjou). Rev Rheum Engl Ed 1995; 62: 571-5. 13.[molcom.jp]
Sex distribution
Age distribution


  • In order to gain insight into the relationship between sleep and bone, we review the growing information on OSA and metabolic bone disease and discuss the pathophysiological mechanisms by which OSA may affect bone metabolism/architecture. 2015 American[ncbi.nlm.nih.gov]
  • We may hope that these data will aid in the further understanding of the pathophysiology of CIM in cases of metabolic bone disease.[ncbi.nlm.nih.gov]
  • The aim of this review is to discuss the pathophysiology, diagnosis, prevention, and treatment of metabolic bone disease.[neoreviews.aappublications.org]
  • Christopher Gallagher 77 Pathophysiology of Chronic Kidney Disease Mineral Bone Disorder (CKD–MBD) 632 Keith A. Hruska and Michael Seifert 78 Treatment of Chronic Kidney Disease Mineral Bone Disorder (CKD–MBD) 640 Hala M. Alshayeb and L.[wiley.com]


  • It is essential that orthopaedists recognize these conditions, provide a correct diagnosis, and use appropriate preventive and therapeutic treatments.[ncbi.nlm.nih.gov]
  • Meticulous preoperative screening, judicious use of vitamin and mineral supplements, addressing modifiable risk factors, and monitoring the absorption of key nutrients postoperatively are essential in preventing metabolic bone disease in bariatric surgery[ncbi.nlm.nih.gov]
  • The recognition, evaluation, treatment, and prevention of these conditions will be discussed after a brief description of normal bone metabolism.[ncbi.nlm.nih.gov]
  • Concepts are presented to assist the practitioner in identifying patients at risk; clinical evaluation and diagnostic test selection are discussed, and therapeutic options for the prevention and treatment of metabolic bone disease in gastrointestinal[ncbi.nlm.nih.gov]
  • The use of intramedullary nails prevented recurrence of deformity and refracture.[ncbi.nlm.nih.gov]


Metabolic bone disease (MBD) is a general term that may refer to distinct entities associated with disturbances of anabolic and catabolic processes, bone homeostasis and remodeling. Even though an exhaustive list of MBD is not available currently [1] [2], the following pathologies can be named exemplary:

  • Hypophosphatasia, a hereditary disorder resulting in reduced activity of alkaline phosphatase and insufficient bone mineralization.
  • Osteopetrosis, a hereditary disease associated with impaired osteoclastic bone resorption.
  • Osteoporosis, a common MBD caused by imbalances between bone formation and bone resorption.
  • Paget's disease (osteitis deformans), an MBD of unknown etiology characterized by focal disturbances of osteoblast and osteoclast activity.
  • Rickets and osteomalacia, most commonly caused by vitamin D deficiency and associated with insufficient bone mineralization.

Bone metabolism is highly dependent on endocrinological factors such as thyroid, parathyroid, adrenal and gonadal hormone release and on the availability of electrolytes [3]. In this context, diseases like hypo-/hyperparathyroidism, Cushing's disease [4], celiac disease, inflammatory bowel disease [5], and renal tubular acidosis may provoke secondary MBD.

MBD treatment depends on the underlying disorder. In general, physical therapy is indicated to stimulate muscle gain. This approach is usually complemented with dietary adjustments and medication. Some conditions may also require surgical management.



  1. Masi L, Brandi ML. Gaucher disease: the role of the specialist on metabolic bone diseases. Clin Cases Miner Bone Metab. 2015;12(2):165-169.
  2. Le Merrer M, Orcel P. Orphan musculoskeletal and metabolic bone diseases. Best Pract Res Clin Rheumatol. 2008;22(1):1-2.
  3. Bours SP, van Geel TA, Geusens PP, et al. Contributors to secondary osteoporosis and metabolic bone diseases in patients presenting with a clinical fracture. J Clin Endocrinol Metab. 2011;96(5):1360-1367.
  4. Kaltsas G, Makras P. Skeletal diseases in Cushing's syndrome: osteoporosis versus arthropathy. Neuroendocrinology. 2010;92 Suppl 1:60-64.
  5. Wada Y, Hisamatsu T, Naganuma M, et al. Risk factors for decreased bone mineral density in inflammatory bowel disease: A cross-sectional study. Clin Nutr. 2015;34(6):1202-1209.
  6. Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ. Imaging Findings of Metabolic Bone Disease. Radiographics. 2016;36(6):1871-1887.
  7. Kirkland JD, O'Brien WT. Osteopetrosis - Classic Imaging Findings in the Spine. J Clin Diagn Res. 2015;9(8):Tj01-02.
  8. Lalam RK, Cassar-Pullicino VN, Winn N. Paget Disease of Bone. Semin Musculoskelet Radiol. 2016;20(3):287-299.
  9. Heilmeier U, Youm J, Torabi S, Link TM. Osteoporosis Imaging in the Geriatric Patient. Curr Radiol Rep. 2016;4(4).
  10. Cook GJ, Gnanasegaran G, Chua S. Miscellaneous indications in bone scintigraphy: metabolic bone diseases and malignant bone tumors. Semin Nucl Med. 2010;40(1):52-61.

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Last updated: 2019-07-11 20:51