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Last reviewed: 16 Mar 2025
Last updated: 04 Jun 2024

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • bowing of the legs
  • widening of the ends of the long bones
  • delayed tooth eruption and early dental caries
  • chest deformity
  • throbbing, aching bone discomfort and/or irritability
  • head sweating
  • localised or generalised bone tenderness
  • proximal muscle weakness
  • rachitic rosary
  • frontal bossing
  • waddling gait

Other diagnostic factors

  • faltering growth
  • delayed achievement of motor milestones
  • fatigue and malaise
  • symptoms of hypocalcaemia

Risk factors

  • inadequate sunlight exposure
  • increased skin pigmentation
  • age >50 years
  • inadequate dietary and supplemental vitamin D intake
  • malabsorption
  • obesity
  • medication use
  • genetic mutations
  • tumour
  • chronic kidney disease
  • granulomatous disorders
  • primary hyperparathyroidism
  • hyperthyroidism

Diagnostic investigations

1st investigations to order

  • serum 25-hydroxyvitamin D
  • serum calcium
  • fasting serum phosphate
  • serum alkaline phosphatase
  • plain-film radiographs of knees and wrists

Investigations to consider

  • intact PTH
  • serum 1,25-dihydroxyvitamin D
  • bone density (DEXA) scan

Treatment algorithm

Contributors

Authors

Michael F. Holick, PhD, MD

Director Vitamin D, Skin, and Bone Research Laboratory

Director Ehlers-Danlos Clinical Research Programme

Professor of Medicine, Physiology, and Biophysics and Molecular Medicine

Departments of Medicine, Physiology, and Biophysics

Section of Endocrinology, Diabetes, Nutrition and Weight Management

Boston University School of Medicine

Boston

MA

Disclosures

MFH has a clinical research contract and consultant for Solius Inc., clinical and basic research contract and grant from Carbogen-Amcis, and is a consultant for Faes Farma. He is a speaker for Pulse Ltd, Abbott Inc., Sanofi Inc., Menarini Inc., and a board member Bridge to Life. He also chaired the Endocrine Society’s practice guidelines on vitamin D. MFH is an author of references cited in this topic.

Peer reviewers

Vin Tangpricha, PhD, MD

Professor of Medicine

Division of Endocrinology

Metabolism and Lipids

Emory University School of Medicine

Atlanta

GA

Disclosures

VT is an author of references cited in this topic.

Stefan Pilz, MD

General Practitioner

Resident at the Department of Internal Medicine

Division of Endocrinology and Nuclear Medicine

Medical University of Graz

Graz

Austria

Disclosures

SP is an author of references cited in this topic.

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