Vitamin D deficiency remains the most common cause of Osteomalacia & rickets. My first presentation prepared by me as a first year family medicine board resident. 😊

1. Osteomalacia and
Rickets
Family Medicine Residency Program
Supervised by: Assistant Prof. D.Ali Shakir, Dr.Lara Abbas
Prepared by: Dr.Shajwan Hdayat Dara
27 Mar.2023

2. Introduction:
• Osteomalacia is a disorder of deficient mineralization of newly formed
osteoid at sites of bone turnover and manifestations are more subtle
& frequently overlooked.
• Rickets is a disorder of defective mineralization of both cartilaginous
growth plate & bone causing characteristic deformities.
• Both can occur together in children (open growth plate), but only
Osteomalacia occurs in adults (fused growth plate).

3. Pathophysiology:
• Normal bone mineralization :
1. Availability of sufficient Ca & phosphorus.
2. Presence of normal bone collagen.
3. Absence of inhibitors of mineralization.
4. Adequate amount of alkaline phosphatase activity.
*any defect in these requirements are the cause of most forms of Osteomalacia &
rickets.

4. Mineralization process:
• Osteoblast osteoid Bone

6. Calcitriol effect on Ca & Phosphate
homeostasis

7. Laxative abuse,
cholestyramine therapy
Dietary:
• High phytate
cereals & flat
breads
• Avoidance of
dairy
products.

9. Epidemiology:
• Nutritional Rickets continues to be an evolving & multifactorial
problem worldwide.
• About 25% of women in US have 25-OHD level <25 ng/ml & 8% below
12 ng/ml.
• Osteomalacia & rickets must be excluded before administration of
antiresorptive drugs used for postmenopausal osteoporosis.
• Recent migration to Europe & US has been accompanied by
resurgence of deficiency diseases especially vit D def.
*Goldman-Cecil medicine textbook, 26th ed.

10. Clinical manifestations of Osteomalacia:
• Depending of extent of mineralization delay, overt Osteomalacia may take
many years to develop.
• Symptoms may be insidious in onset & present radiologically as osteopenia.
• Most common Sx: pelvis & leg pain, muscle weakness & bone tenderness.
• The pain is dull, poorly localized aggreviated by sudden movements & weight
bearing resulting in a ‘waddling gait’ made worse by proximal muscle
weakness.
• Patients may complain that they can only climb stairs by pulling themselves up
with hand rail or rise from a chair or toilet by using their hands to push off.
• So decrease in strength is far greater than muscle wasting.

11. Clinical manifestations cont.
• Fracture with little or no trauma (ribs, vertebrae & long bones).
• Paresthesias, muscle cramp, seizurs & +ve Chvostek’s sign (severe hypocalcemia).
• Spinal, thoracic & pelvic deformity (severe long standing Osteomalacia)
• In XLH: +ve FH, short stature & lower leg deformity.

12. Clinical manifestations of Rickets:
• Most common during first 2 yr of life & may become evident only after several
months of a vit D-deficient diet.
• Skeletal findings Initially manifest at distal forearm, knees & costochondral
junctions (sites of rapid bone growth with greatest demand for Ca & P).
• Extraskeletal findings: dental hypoplasia in calcipenic rickets, dental abscesses
in hereditary phosphopenic rickets.

14. Radiographic findings:
• Radiological abnormalities in Osteomalacia are
less striking than in rickets & may be subtle or
absent.
• Presence of bilaterally symmetrical, thin (2-
3mm) radiolucent bands known as
pseudofractures found perpendicular to
cortical margins of ribs, pubic & ischial rami,
neck of femur, metatarsals & scapulae is
generally considered to be pathognomonic of
Osteomalacia.

15. Radiographic findings of Osteomalacia:

16. Radiographic findings of Rickets:
•Epiphyseal/Metaphyseal
interface (early sign)

17. Radiographic findings of Rickets:

18. Radiographic findings of Rickets: Rachitic
Rosary

19. Diagnosis of Osteomalacia:
• A delay in diagnosis is commonly reported because clinicians consider
other differentials prior to confirmation of Osteomalacia including
OA, osteoporosis, paget disease, CA, malabsorption, IBS, depression..
• History: it should be suspected in cases of bone pain associated with
GI malabsorption, CKD or Chronic liver disease. Onset, dietary habits,
sun exposure, surgical procedures, drug hx.
• Radiologic findings: to distinguish Osteomalacia from multiple
myeloma or paget disease.

20. Diagnosis of Osteomalacia cont:
• Histomorphometric assessment:
• transiliac crest bone biopsy using double tetracycline labelling is most
accurate way to dx Osteomalacia. However it’s infrequently
performed clinically because it’s invasive & dx can usually be made
from combination of clinical, lab & radiologic findings.
• indicated when in doubt or the cause is not determined by
noninvasive testing eg. Rare disorders as axial Osteomalacia or
fibrogenesis imperfecta.

21. Diagnosis of Osteomalacia cont:
• Bone Mineral Density:
• several studies have shown markedly reduced spine, hip & forearm
BMD as measured by DEXA in pt with vit-D deficient Osteomalacia.
• However, BMD is not required for Dx of ostemalacia & unable to
differentiate it from osteoporosis.

22. Diagnosis of Osteomalacia cont:
+BUN, s.Electrolytes

26. +s.creatinine, LFT

27. Biochemical findings in Rickets:
(continuation of the previous algorithm)

28. Treatment & prognosis:
• Rx is directed at reversal of underlying disorder & correction of
mineral deficiencies. Response to appropriate Rx is usually excellent.
• Improvements in bone pain & muscle weakness usually occur within
2-3 mo & healing of skeletal lesions within 6-18 mo.
• Bone density improvement from Rx may continue for up to a year.
• Depending on the quantity of excess osteoid, repeat BMD may show
as much as 20% gains at lumbar spine & total proximal femur.

29. Treatment & prognosis cont:
• However, BMD at radial diaphysis may not improve due to irreversible
loss of cortical bone resulting from prolonged secondary
hyperparathyroidism.
• Presence of decreased bone volume in addition to excess osteoid,
skeletal recovery may be incomplete resulting in residual osteoporosis.
• However, caution must be considered before adding antiresorptive agent
& wait for normalization of Ca, Pi & alkaline phosphatase.

33. Treatment of Vit-D deficiency in Rickets:
•Daily therapy – The most widely used Rx consists of daily replacement
doses of vitD2 or vitD3. The following dosing is recommended for children
without underlying defects in intestinal absorptive function:
• •Infants <1 mo – 1000 IU daily for up to three months, followed by
maintenance dosing of 400 IU daily.
• •Infants 1 to 12 mo – 1000 to 2000 IU daily for up to three months, followed by
maintenance dosing of 400 IU daily.
• •Children 1 to 12 yr – 2000 to 6000 IU daily for three months, followed by
maintenance dosing of 600 IU daily.
• •Children ≥12 yr – 6000 IU daily for three months, followed by maintenance
dosing of 600 IU daily.

34. Treatment of Vit-D deficiency in Rickets:
•Stoss therapy – An alternative Rx protocol which consists of a
high dose of vitamin D given on a single day. The Global Consensus
prefers daily therapy rather than stoss therapy, but recognizes that it is
sometimes more practical & provides the following dosing using
oral vitamin D3 & not vitD2:
• •Infants <3 mo– Stoss therapy not recommended
• •Infants 3 to 12 mo– A single dose of 50,000 IU
• •Children 1 to 12 yr – A single dose of 150,000 IU
• •Children ≥ 12 yr – A single dose of 300,000 IU

35. Monitoring of VitD Therapy:
Serum Ca, Pi, alkaline phosphatase & urinary Ca:cr ratio should be measured 4
weeks after the start of therapy.
• They become normalized except urinary Ca:Cr ratio may still be low.
• These tests should be repeated monthly until doses are adjusted downward to
a typical daily replacement amount.
• This typically occurs by three months of therapy, at which time radiographs can
be obtained to document the healing of rachitic lesions.
• Monitoring is also important to ensure that no toxicity has occurred.

36. Treatment of calcium deficiency rickets:
• It can be treated by ensuring a daily intake of 1000 mg of calcium and
maintenance of vitamin D intake at the recommended daily value.

37. Prevention:
• High risk populations (eg. Dark skinned, immigrants) require lifelong
supplementation & food fortification with vitD or Ca.
• Optimal vitD supplementation isn’t clear but most bone & mineral problems are
avoided by 50,000 IU cholecalciferol given once monthly. Except in pt with celiac
disease, gastric operation or bypass for obesity who often require much larger
amounts.
• VitD is recommended for all breast-fed infants as 400 IU/d started soon after
birth& given until the infant is taking >1000 IU of formula or vitD-fortified milk
(for age>1 yr).

38. References:
• UpToDate
• Goldman-Cecil Medicine Textbook, 26th ed.
• Nelson Essentials of Pediatrics, 9th ed.
• Linda S. Costanzo Physiology-Elsevier (2017)

39. •Thank You ;)