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
insufficiency
deficiency
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.
Differentials
- Primary hyperparathyroidism
- Multiple myeloma
- Fibromyalgia
More DifferentialsGuidelines
- Vitamin D: supplement use in specific population groups
- Vitamin D deficiency
More GuidelinesPatient information
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