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
- failure to thrive
- 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 alkaline phosphatase
- serum calcium
- fasting serum phosphate
- 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
Director Bone Healthcare Clinic
Director Ehlers-Danlos Clinical Research Programme
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 reviewers
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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