Osteomalacia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Osteomalacia is the softening of the bones caused by deactivated bone mineralization primarily due to inadequate levels of available phosphate and calcium, or because of resorption of calcium. Osteomalacia in children is known as rickets, and because of this, use of the term “osteomalacia” is often restricted to the milder, adult form of the disease. Signs and symptoms can include diffuse body pains, muscle weakness, and fragility of the bones.

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Osteomalacia overview from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Natural History

Complications

Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

References

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Historical Perspective

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Overview

Historical Perspective

References

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Classification

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Overview

Classification

References

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Pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Overview

Pathophysiology

References

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Causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Luke Rusowicz-Orazem, B.S.

Overview

Osteomalacia is the softening of the bones caused by deactivated bone mineralization primarily due to inadequate levels of available phosphate and calcium, or because of resorption of calcium. Osteomalacia in children is known as rickets, and because of this, use of the term “osteomalacia” is often restricted to the milder, adult form of the disease. Signs and symptoms can include diffuse body pains, muscle weakness, and fragility of the bones.

Causes

Common Causes

Insufficient nutritional quantities or faulty metabolism of vitamin D or phosphorus
Renal tubular acidosis
Malnutrition during pregnancy
Malabsorption syndrome
Hypophosphatemia^[1]
Chronic kidney failure
Tumor-induced osteomalacia
Long-term anticonvulsant therapy^[2]
Celiac disease^[3]
Cadmium poisoning, Itai-itai disease

Causes by Organ System

Cardiovascular	No underlying causes
Chemical/Poisoning	Aluminium toxicity, Bisphosphonates, Cadmium poisoning
Dental	No underlying causes
Dermatologic	No underlying causes
Drug Side Effect	Adefovir, Ethotoin, Etidronate, Fluoride, Glutethimide, Long-term anticonvulsant therapy, Phenytoin, Tenofovir
Ear Nose Throat	No underlying causes
Endocrine	Cystinosis, Hyperparathyroidism, Hypocalcemia, Nephropathic early-onset cystinosis, primary hyperparathyroidism
Environmental	Inadequate sunlight exposure
Gastroenterologic	Celiac disease, Cholestasis, Primary biliary cirrhosis
Genetic	Wilson disease, X-linked hypophosphataemia
Hematologic	Acid phosphatase deficiency, Acid-base imbalance, Hypocalcemia, Hypokalaemic distal renal tubular acidosis, Insufficient vitamin d, Malabsorption, Metabolic acidosis, Vitamin d deficiency
Iatrogenic	Long-term anticonvulsant therapy
Infectious Disease	No underlying causes
Musculoskeletal/Orthopedic	Autosomal dominant hypophosphatemic rickets, Axial osteomalacia, Mesenchymal tumors
Neurologic	No underlying causes
Nutritional/Metabolic	Insufficient vitamin d, Malabsorption, Malnutrition during pregnancy, Vitamin d deficiency
Obstetric/Gynecologic	Malnutrition during pregnancy
Oncologic	Mesenchymal tumors
Ophthalmologic	No underlying causes
Overdose/Toxicity	No underlying causes
Psychiatric	No underlying causes
Pulmonary	No underlying causes
Renal/Electrolyte	Adult hypophosphatasia, Chronic kidney failure, Dent disease, Fanconi renotubular syndrome, Hypokalaemic distal renal tubular acidosis, Hypophosphatasia, Hypophosphatemia, Metabolic acidosis, Primary renal phosphate wasting syndromes, Proximal renal tubular acidosis, Renal failure, Renal tubular acidosis
Rheumatology/Immunology/Allergy	Autosomal dominant hypophosphatemic rickets, Celiac disease, Fibrogenesis imperfecta
Sexual	No underlying causes
Trauma	No underlying causes
Urologic	Dent disease
Miscellaneous	No underlying causes

Causes in Alphabetical Order

References

↑ “Autoimmunity research foundation, Science behind Vitamin D”. Retrieved 2011-07-19.
↑ Pack, Alison (2008). “Bone health in people with epilepsy: is it impaired and what are the risk factors”. Seizure. 17 (2): 181–6. doi:10.1016/j.seizure.2007.11.020. PMID 18187347.
↑ Albany, Costantine; Servetnyk, Zhanna (2009). “Disabling osteomalacia and myopathy as the only presenting features of celiac disease: a case report”. Cases Journal. 2 (1): 20. doi:10.1186/1757-1626-2-20. PMC 2626577. PMID 19128487.

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Differentiating Any Disease from other Diseases

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Overview

Osteomalacia must be differentiated from other diseases that cause lowering bone mineral density (BMD), such as osteoporosis, scurvy, osteogenesis imperfecta, multiple myeloma, and homocysteinuria.

Differential Diagnosis

Osteomalacia must be differentiated from other diseases that cause lowering bone mineral density (BMD), such as osteoporosis, scurvy, osteogenesis imperfecta, multiple myeloma, and homocysteinuria.


Differential Diagnosis	Similar Features	Differentiating Features

Osteomalacia	On physical examination, demonstrates diffuse bone pain, fatigue, and fractures are the common symptoms On imaging studies, demonstrates low bone mineral density (BMD)	–
Osteoporosis	On physical examination, demonstrates acute musculoskletal pain, if fracture happened On imaging studies, demonstrates severe decrease in BMD	On imaging studies, demonstrate the severe bone mass loss in bones
Idiopathic transient osteoporosis of hip	On physical examination, demonstrates acute hip pain On imaging studies, demonstrates sub-chondoral cortical loss and diffuse osteopenia of the femoral neck	On history, demonstrates mostly involvement of pregnant women and young men On history, demonstrates to be self-limiting in 6-8 months
Scurvy	On physical examination, demonstrates bone pain and frequent fractures due to brittle bone On imaging studies, demonstrates low bone mineral density (BMD)	On physical examination, demonstrates other mucosal disruption symptoms, such as bleeding gums On imaging studies, demonstrates normal bone mineral density (BMD)
Osteogenesis imperfecta	On physical examination, demonstrates Short stature, scoliosis, and propensity for fractures	On physical examination, demonstrates tooth defects, hearing defects, and blue sclera On laboratory studies, demonstrates near normal bone mineral density (BMD)
Multiple myeloma	On physical examination, demonstrates diffuse bone pain and tenderness On imaging studies, demonstrates osteolytic lesions in the bones	On laboratory studies, demonstrates monoclonal IgM overload in electrophoresis, and also Bence-Jones protein in urine
Homocystinuria	On physical examination, demonstrates diffuse bone pain and musculoskeletal symptoms	On physical examination, demonstrates visual impairment On laboratory studies, demonstrates high amounts of homocysteine in urine

References

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Epidemiology and Demographics

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Osteomalacia is the softening of the bones caused by deactivated bone mineralization primarily due to inadequate levels of available phosphate and calcium, or because of resorption of calcium. Osteomalacia in children is known as rickets, and because of this, use of the term “osteomalacia” is often restricted to the milder, adult form of the disease. Signs and symptoms can include diffuse body pains, muscle weakness, and fragility of the bones.

Epidemiology and Demographics

Nursing home residents and the homebound elderly population are at particular risk for vitamin D deficiency, as these populations typically receive little sun exposure. In addition, both the efficiency of vitamin D synthesis in the skin and the absorption of vitamin D from the intestine decline with age, thus further increasing the risk in these populations. Other groups at risk include individuals with malabsorption secondary to gastrointestinal bypass surgery or celiac disease, and individuals who immigrate from warm climates to cold climates, especially women who wear traditional veils or dresses that prevent sun exposure.^[1]

References

↑ Kennel, KA; Drake, MT; Hurley, DL (August 2010). “Vitamin D deficiency in adults: when to test and how to treat”. Mayo Clinic Proceedings. 85 (8): 752–7, quiz 757-8. doi:10.4065/mcp.2010.0138. PMID 20675513.

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Risk Factors

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Overview

Risk Factors

References

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Screening

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Overview

Screening

References

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Natural History, Complications and Prognosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Overview

Natural History

Complications

Prognosis

References

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Diagnosis

Treatment

Case Studies

Case #1

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[1] “Autoimmunity research foundation, Science behind Vitamin D”. Retrieved 2011-07-19.

[2] Pack, Alison (2008). “Bone health in people with epilepsy: is it impaired and what are the risk factors”. Seizure. 17 (2): 181–6. doi:10.1016/j.seizure.2007.11.020. PMID 18187347.

[3] Albany, Costantine; Servetnyk, Zhanna (2009). “Disabling osteomalacia and myopathy as the only presenting features of celiac disease: a case report”. Cases Journal. 2 (1): 20. doi:10.1186/1757-1626-2-20. PMC 2626577. PMID 19128487.

[1] Kennel, KA; Drake, MT; Hurley, DL (August 2010). “Vitamin D deficiency in adults: when to test and how to treat”. Mayo Clinic Proceedings. 85 (8): 752–7, quiz 757-8. doi:10.4065/mcp.2010.0138. PMID 20675513.

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Osteomalacia

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Osteomalacia overview from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Natural History

Complications

Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

References

Overview

Historical Perspective

References

Overview

Classification

References

Overview

Pathophysiology

References

Overview

Causes

Common Causes

Causes by Organ System

Causes in Alphabetical Order

References

Overview

Differential Diagnosis

References

Overview

Epidemiology and Demographics

References

Overview

Risk Factors

References

Overview

Screening

References

Overview

Natural History

Complications

Prognosis

References

Diagnosis

Treatment

Case Studies

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