RHEUMATOLOGY

Vitamin D deficiency – Rickets

  • Vitamin D is essential for bone and muscle health. Low vitamin D and low calcium and/or phosphate can cause nutritional rickets
  • Sunlight is the most important source of vitamin D at all ages
  • Vitamin D deficiency is common in risk groups and should be self-managed wherever possible – through education, behaviour change and supplementation as required
  • In Australia, nutritional rickets is generally only seen in infants and children with dark skin

Background

  • Sunlight (UVB) is the most important source of vitamin D (>90%) through skin synthesis of D3. This varies with
    • Skin colour: people with dark skin require greater UVB exposure compared to people with light skin 
    • Skin exposure: covering clothing may result in low vitamin D levels 
    • Season/UVB availability: during winter there may not be enough UVB to maintain adequate vitamin D levels in southerly latitudes. Sunscreens do not result in low vitamin D with normal use 
  • Only small amounts of vitamin D are available from diet:
    • the main natural food source is fish
    • breastmilk, despite its other benefits, contains almost no vitamin D
    • infant formula is fortified with vitamin D 
  • In the absence of sun exposure, recommended intakes of vitamin D are:
    • 0–12 months old: 400 units daily
    • 1–18 years old: 400–600 units daily
  • 25-OH-D is used to measure vitamin D status
  • The recommended 25-OH-D level is ≥50 nmol/L at all ages and during pregnancy 
Definitions of vitamin D status 
Severe deficiency <12.5 nmol/L 
Moderate deficiency 12.5–29 nmol/L
Mild deficiency 30–49 nmol/L 
Sufficient ≥50 nmol/L
Elevated ≥250 nmol/L
Toxicity is defined as serum 25-OH-D >250 nmol/L with hypercalcaemia and suppression of parathyroid hormone (PTH)

Assessment

  • Risk factors
    • Lack of skin exposure to sun (time inside, covering clothes)
    • Dark skin
    • Medical conditions affecting Vitamin D metabolism (obesity, liver/renal failure, severe malabsorption, medications)
    • Infants: exclusive breastfeeding AND any of: the above risk factors, maternal deficiency or prematurity 
  • History
    • Time outdoors and covering clothing
    • Dietary history (calcium intake, breastfeeding/formula in infants)
    • Previous vitamin D levels and treatment
    • a wide range of formulations are available 
    • Family understanding
    • Non-specific bony/muscular pain, fatigue with exercise
    • Poor growth, motor delay and irritability (infants)
    • Symptoms of low calcium: muscle cramps, tetany, stridor, seizures (rare beyond 6–12 months of age)
  • Examination
    • Growth parameters, exclusion of other musculoskeletal pathology
    • Delayed dentition (no teeth by 9 months, no molars by 14 months) 
  • Rickets:
    • occurs in growing bones, so it mostly occurs in infants and young children, but it can also occur in teenagers 🡪 softer bones weaker bones – bend and become an abnormal shape
    • long bone deformity (eg genu varum/valgus – if weight bearing) 
    • widening of wrists/ankles
    • delayed anterior fontanelle closure (normally closed by 2 years)
    • frontal bossing
    • rosary (widening of ribs at costochondral junction)
    • increased risk of fracture

Management

Flowchart – Investigation and treatment of low vitamin D 

vitamin_d_deficiency
  • Breast fed infants <12 months with other risk factors can usually start supplements (400 units daily) without investigations, provided they do not have symptoms/signs
  • Consider admission: symptomatic hypocalcaemia (including tetany, stridor, seizures) or severe rickets
  • Specialist review: infants with symptoms/signs, clinical rickets, abnormal serum calcium, or vitamin D deficiency not responding to high dose supplements

Investigations

  • Breastfed babies can usually be started on supplements without testing
  • Screen children/adolescents with one or more risk factors for low vitamin D (25-OH-D, Ca, PO4, and ALP)
  • Also check PTH if low calcium intake, symptoms, or multiple risk factors 
  • Infants and children with rickets need additional investigations:
    • 25-OH-D, Ca, PO4, ALP, Mg, PTH, UEC, urine Ca, PO4, creatinine; X-ray L wrist, clinical photos
    • X-ray changes of rickets – osteopenia, metaphyseal widening/splaying/fraying

Treatment

  • Children with low vitamin D should be treated (see table below) to restore their levels to the normal range (≥50 nmol/L)
    • There is limited evidence to support high dose treatment in infants <3 months 
  • Ensure adequate calcium intake (see calcium intake table below) . Cheese, yoghurt and fortified soy dairy are useful sources of calcium in children who dislike cow milk. Consider supplements if poor intake
  • Education on sun protection and exposure (see sun exposure table below).  Children/young people with dark skin can tolerate intermittent sun exposure without sunscreen, although hats/sunglasses are still recommended
  • Children with nutritional rickets should be managed under specialist guidance. The minimum recommended dose of vitamin D is 2000 units daily for minimum of 3 months, together with oral calcium 500 mg daily (either via diet or supplements). Phosphate supplements may also be needed 

Treatment of low vitamin D 

Age Level (deficiency) Treatment
Oral doses D3/colecalciferol
1 microgram = 40 units 
Maintenance/prevention in children with ongoing risk factors 
Preterm Mild
3049 nmol/L 
200 units/kg/day, maximum 400 units/day 200 units/kg/day,
maximum 400 units/day 
Moderate or severe
<30 nmol/L
800 units/day, review after 1 month
<3 months
(term) 
Mild
3049 nmol/L 
400 units/day for 3 months  400 units daily 
Moderate or severe <30 nmol/L1,000 units/day daily for 3 months
3–12 months Mild
3049 nmol/L 
400 units/day for 3 months  400 units daily 
Moderate or severe
<30 nmol/L
1,000 units/day for 3 months OR
50,000 units stat and review after 1 month (consider repeating dose)
1–18 years Mild deficiency
3049 nmol/L 
1,000-2,000 units/day for 3 months OR 150,000 units stat 400600 units daily, OR
30004000 units once weekly, OR
150,000 units at start of Autumn 
Moderate or severe
<30 nmol/L
1,0002,000 units daily for 6 months OR 3,0004,000 units daily for 3 months OR 150,000 units stat and repeat at 6 weeks

Calcium intake 

Age Adequate intake (AI) Estimated average requirement (EAR) Recommended dietary intake (RDI) 
0–6 months 200 mg 
7–12 months 270 mg 
1–3 years 360 mg 500 mg 
4–8 years 520 mg 700 mg 
9–11 years 800 mg 1000 mg 
12–18 years1050 mg1300 mg

 Ongoing monitoring and self-management 

  • Breastfed infants at risk of low vitamin D should be given 400 units vitamin D daily for at least the first 12 months
    • Supplementation is usually not required in fully formula fed infants 
  • Follow up bloods (25-OH-D, Ca, PO4, ALP, and PTH if previously elevated)
    • Not usually required in mild deficiency
    • Check at 1 month in infants, at 3 months if older
  • Children with risk factors for low vitamin D require ongoing monitoring and a plan to maintain vitamin D and calcium status with behavioural change and supplementation as required 
  • Provide education and a plan for self-management: consider 400–600 units daily OR 3000–4000 units once weekly over the cooler months (May–August) to avoid need for blood testing and the need for high dose therapy 

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