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Last reviewed: 16 Mar 2025
Last updated: 13 Mar 2025

Summary

Definition

History and exam

Key diagnostic factors

  • older age
  • vitamin D and calcium deficient diets
  • lack of sunlight exposure
  • fractures
  • malabsorption syndromes
  • diffuse bone pain and tenderness
  • proximal muscle weakness
  • family history of osteomalacia
  • waddling gait

Other diagnostic factors

  • anticonvulsant therapy
  • steatorrhoea

Risk factors

  • dietary calcium and vitamin D deficiency
  • chronic kidney disease
  • limited sunlight exposure
  • inherited disorders of vitamin D and bone metabolism
  • hypophosphatasia
  • anticonvulsant therapy
  • mesenchymal tumours
  • Fanconi's syndrome

Diagnostic investigations

1st investigations to order

  • serum calcium level
  • serum 25-hydroxyvitamin D level
  • serum phosphate level
  • serum urea and creatinine
  • intact PTH
  • serum alkaline phosphatase
  • 24-hour urinary calcium

Investigations to consider

  • bone x-rays
  • 24-hour urinary phosphate
  • dual-energy x-ray absorptiometry
  • iliac crest biopsy with double tetracycline labelling

Treatment algorithm

Contributors

Authors

Bridget Sinnott, MD
Bridget Sinnott

Professor of Medicine

Medical College Georgia

Augusta

GA

Disclosures

BS declares that she has no competing interests.

Acknowledgements

Dr Bridget Sinnott would like to gratefully acknowledge Dr Jelena Kravarusic, a previous contributor to this topic. JK declares that she has no competing interests.

Peer reviewers

Udaya Kabadi, MD, FRCP(C), FACP, FACE

Director

Endocrinology

Department of Internal Medicine

VA Medical Center

University of Iowa

Iowa City

IA

Disclosures

UK declares that he has no competing interests.

Stephan Scharla, MD

Department of Internal Medicine

Endocrinology & Diabetes

LMU University Munich

Munich

Germany

Disclosures

None declared.

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