Last reviewed:October 2019
Last updated:August  2019

Summary

Definition

History and exam

Key diagnostic factors

  • inadequate sunlight exposure
  • increased skin pigmentation
  • age >50 years
  • history of inadequate dietary and supplemental vitamin D intake
  • history of malabsorption
  • obesity
  • medication use, including antiseizure medications, glucocorticoids, and AIDS medications
  • history of benign or malignant tumor
  • history of chronic kidney disease
  • 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
  • localized or generalized bone tenderness
  • proximal muscle weakness
  • rachitic rosary
  • frontal bossing
  • waddling gait

Other diagnostic factors

  • failure to thrive
  • delayed achievement of motor milestones
  • fatigue and malaise
  • symptoms of hypocalcemia

Risk factors

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

Diagnostic investigations

1st investigations to order

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

Investigations to consider

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

Treatment algorithm

Contributors

Director Bone Healthcare Clinic

Director Ehlers-Danlos Clinical Research Program

Professor of Medicine, Physiology, and Biophysics

Departments of Medicine, Physiology, and Biophysics

Section of Endocrinology, Diabetes, and Nutrition

Vitamin D, Skin, and Bone Research Laboratory

Boston University School of Medicine

Boston

MA

Disclosures

MFH is a consultant for Quest Diagnostics and a speaker for Abbott. He also chaired the Endocrine Society’s practice guidelines on vitamin D. MFH is an author of references cited in this topic.

Peer reviewersVIEW ALL

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.

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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