metabolic disease from physiotherapy point of view. in detailed description along with imaging and assessment techniques of the same.

1. METABOLIC BONE
DISEASE
Radhika Chintamani

2. CONTENTS
Introduction
Types of diseases
Conditions in detail
Investigations
Management
Evidence based practice
References

3. Introduction
Metabolic bone disease is an umbrella term referring to
abnormalities of bones caused by a broad spectrum of disorders.
Most commonly these disorders are caused by abnormalities of
minerals such as calcium, phosphorus, magnesium or vitamin D
leading to dramatic clinical disorders that are commonly
reversible once the underlying defect has been treated.
Metabolic bone diseases are a heterogeneous group of disorders
characterized by abnormalities in calcium metabolism and/or bone
cell physiology.

4. Types Of Metabolic disease
Osteopenic Disease : generalized decrease in bone mass.
Eg- Osteoporosis.
Osteosclerotic Disease : increased in bone mass.
Eg -fluorosis
Osteomalacia Disease : increase in ratio of organic fraction
to the mineralised fraction.
Eg- Osteomalacia
Mixed disease: combination of osteopenia and osteomalacia.
Eg -
Hyperparathyroidism.

5. Generalized bone disorders due to metabolic disturbances:
 Rickets (children)
 Osteomalacia (adults)
 Scurvy
 Osteoporosis
 Hyperparathyroidism
 Hyperpituitarism
 Hypopituitarism
 Hypothyroidism in childhood (Cretinism)
 Hypophosphatasia
 Idiopathic Hyperphosphatasia

6.  Hypophosphatemic Rickets (Vitamin D resistant )
 Pseudohypoparathyroidism
 Paget’s Disease
Flurosis
 Renal osteodystrophy
Conditions of decreased bone density
 Osteogenesis Imperfecta
 Idiopathic Juvenile osteoporosis

7. Rickets is a metabolic disease
in
which, osteoid , organic matrix
of bone fails to mineralize due
to interference with
calcification mechanism.
Noted usually between 6mths-
2yrs.
The predominant cause is a
vitamin D deficiency.
RICKETS

8. Types of rickets
Fetal rickets : commonly seen in
osteomalacic mothers
Infantile rickets: Rare before 6
mths. Most common form. Seen
6mths to 3yrs of life.
Later rickets or richitic tarda:
Late onset of rickets.
Familial.
Vitamin D resistant rickets.

9. Deformities in rickets
Skull :
 Broadened forehead
 Skull squared (caput quadratum)
 Frontal and parietal bossing (after 6mths of age)
 Craniotabes is ping pong sensation on
compressing the membraneous bones of skull.

10. Chest:
 Pegion chest due to prominent sternum.
 Narrow chest
 Rickety rosary (enlargement of costochondral
junction)
 Harrison’s sulci.

11. Bones:
- Enlargement of metaphyseal segments.
 Vertebral column- exaggerated curve
 Pelvis terifoil shaped
 Femur bent interiorly and laterally
 Knocked knee
 Bowed tibia.

12. Radiological Findings
Delayed appearance of epiphyses
Widening of epiphyseal plates.
Cupping of the metaphysis
Splaying of metaphysis
Rarefaction of diaphyseal cortex
Bone deformities
-coxa vara
-bow legs
-knock knees.

13. Laboratory Investigations
 Serum calcium level are low (Normal=8.5-10.2mg/dL)
 Serum alkaline phosphatase level usually high (N = 35-
130U/L)
 Serum phosphorous level are low. (N=2.5-4.5mg/dL)
 24hrs urine calcium level. (N = 100-300mg)
 Serum albumin level. (N= 3.3-4.7g/dL)
Bone biopsy is rarely taken. But if done confirms
rickets.

14. Medical treatment
Sunlight. (Vit D3)
Vitamin D 6,00,000units as a single oral dose.
Maintenance dose of 400I.U of vitamin D therapy per
day.
Calcium rich diet

15. EVIDENCE
Shah et al administered 300,000 or 600,000 units of vitamin
D2 orally (100,000 units every 2 weeks) to 42 patients with
vitamin D deficiency rickets between 5mths to 9yrs of age.
At 14 days post administration, radiographic evaluations
confirmed the efficacy of this regimen. However, routine
use of therapy has overwhelming risk of hypercalcemia;
34% of infants who received 600,000 units of vitamin D
every 3 to 5 months during the first one and a half years of
life reported hypercalcemia.

16. The 2003 AAP guideline recommendations were
based on the premise that 200 units daily of vitamin
D would achieve calcidiol concentrations > 11
ng/mL to prevent rickets. Since then, more studies
have shown rickets can manifest in patients with
calcidiol concentrations up to 20 ng/mL.
Based on the evidence 400 units of vitamin daily is
recommended.

17. Physical therapy management
Prevention by splinting and strict bed rest.
EVIDENCE
A study done by T. Koshino on ‘A short leg corrective brace for
varus deformity of the knee in young children with rickets.’
Varus or valgus deformity of the knee was treated with a short leg
corrective brace in 7young children (1 boy ,6 girls) with rickets.
The brace has an upright medially and a pad for counterpush
laterally for correction of varus, and vice versa arrangement for
correction of valgus

18. Sideways pressure was applied by a pad on the lateral
side of the lower leg to correct tibia vara. It resulted
in satisfactory correction of bow legs in six cases
with a mean age at the initial bracing of 2.5 years,
while bracing was unsatisfactory for one girl with
knock knees.

19. Mermaid splint: Mainly useful
when the disease is active and the
deformity is slight. Very effective in
children and in preventing
deformities concerning the lower
limbs. But its slow and requires
continual supervision

20. A study was done by Dabezies et.al on ‘Fractures in very low birth
weight infants with rickets’. Review conducted over 42 mths, 247
very LBW cases were identified. Rickets was diagnosed in 96
(39%) infants whose mean age was 50 days and fractures were
diagnosed in 26 (10.5%) infants whose mean age was 75 days.
These 26 infants experienced 98 fractures: 10 humerus, 13 radius,
8 ulna, 4 metacarpal, 3 clavicle, 54 ribs, 5 femur, and 1 fibula.
Risk factors included hepatobiliary disease, total parenteral
nutrition, diuretic therapy, physical therapy with passive motion,
and chest percussion therapy. With early recognition, metabolic
therapy and splinting, not casting, are appropriate treatments.

21. Breathing difficulties
EVIDENCE:
I. A case -control study of the role of nutritional rickets in
the risk of developing pneumonia in Ethiopian children by
Lulu Muhe et.al Cases were children younger than 5 years
admitted to the Ethio-Swedish Children's Hospital during
a 5-year period with a diagnosis of pnuemonia (n=521).
There were significant differences between cases and
controls for family size, birth order, crowding, and
months of exclusive breastfeeding (p< 0.05).

22. OSTEOMALACIA
Osteomalacia is a weakening of the
bones. It means “soft bones” is
generalized disease of adult bone
characterized by failure of calcium salts
to be deposited promptly in organic
matrix.

23. Clinical features
Generalized skeletal pain
Difficulty in walking (Waddling gait)
Pelvic flattening
Easy fractures , weak and soft bones
Bending of bones
Hypocalcemia
Compressed vertebra

24. Radiological findings
Diffuse demineralization : osteoporotic-like
pattern.
May show characteristics smudgy “erased” or
“fuzzy” type of demineralization.
Coarsened trabecular
Insufficient fractures
Looser zones. (Pseudo fractures)
Articular manifestations (uncommon)
Rheumatoid arthritis like picture
Osteogenic synovitis
Ankylosing spondylitis like picture.

25. Treatment
Nutritional osteomalacia will respond to
administration of 10,000IU weekly of vitamin D
Calcitriol supplementation
having a diet rich in vitamin D
getting a healthy amount of sunshine
reducing alcohol intake
stopping smoking
exercising regularly
maintaining a healthy weight.

26. Evidence
Arthritis Research U.K gives the following exercise
like
1. Walking
2. Running
3. Lifting weights
4. Tai chi : a form of slow, graceful moves -- builds
both coordination and strong bones.
5. Yoga

27. A study reported in Physician and Sports
medicine found that tai chi could slow bone loss in
postmenopausal women. The women, who did 45
minutes of tai chi a day, five days a week for a year,
enjoyed a rate of bone loss up to three-and-a-half
times slower than the non-tai-chi group. Their bone
health gains showed up on bone mineral density
tests.

28. A study reported in Yoga Journal found an increase
in bone mineral density in the spine for women
who did yoga regularly. From the slow, precise
Iyengar style to the athletic, vigorous ashtanga,
yoga can build bone health in your hips, spine, and
wrists -- the bones most vulnerable to fracture.

29. Osteoporosis
Osteoporosis means “porous bone.” .
It is defined as decrease in the quantity of bone per unit volume
that is sufficient to compromise its mechanical functions.
Its decrease mass per unit volume of a normally mineralized
bone due to loss of bone proteins.
It’s a systemic skeletal disease characterised by a reduction of
mineralized bone mass that is associated

30. With an imbalance between bone resorption and bone
formation leading to fragility of bones.
Classification of osteoporosis:
TYPE I
(Postmenopausal)
TYPE II
(Age Related)
AGE: 55-75yrs 70 yrs and above (females)
50 yrs and above (Males)
SEX: F:M = 6:1 2:1

31. IDIOPATHIC
OSTEOPOROSIS
SECONDARY
OSTEOPOROSIS
LOCALIZED
OSTEOPOROSIS
Occurs in the absence of any
disorders.
Bone loss is relatively rapid
for 5-10years following the
menopause , idiopathic
osteoporosis is mot common in
postmenopausal women.
Pain stress fracture of
vertebra , Distal forearm, Hip
(intracapsular)
Tooth loss.
 Develops as a result of
disorders.
Most common are
ovarian hormone
deficiency and
glucocorticoids
treatment.
 Usually develops
when limb is
immobilized.
Can be caused
because of RSD.
Pain, Swelling noted.

32. OUTCOME MEASURES
Qualeffo-41 questionnaire:
Contains 5 domains:
1. Pain
2. Physical function
3. Social function
4. General health perception
5. Mental function(mood)
Lower the score better is the quality of
life.

33. Osteoporosis Assessment Questionnaire-Physical
Function (OPAQ-PF)
A reliable and valid disease-targeted measure of
health-related quality of life (HRQOL) in
osteoporosis.
Also for evaluating treatment effectiveness.

34. Outcome measures used in menopausal
osteoporosis
Greene Climacteric Scale,
Women’s Health Questionnaire,
Menopause Rating Scale
Utian Quality of Life Scale.

35. Diagnosis
Bone mineral content(BMC) and bone
mineral density(BMD) measured using
1. Dual energy x-ray absorptiometry(DXA)
2. Quantitative computed
tomography(QCT)
3. Quantitative ultrasound(QUS)
4. Bone markers
5. Body composition measures
FRAX() Tool

36. DEXA scores
(interpretation)
T score- used to estimate
risk of developing a
fracture.
T score= measured BMD-
mean value of young
adults / SD of young normal
Z score= measured BMD-
mean value of age &
gender matched / SD of
age & gender matched
individuals.

38. FRAX (fracture risk assessment tool)

39. VERTEBRAL IMAGING

40. Singh Index:
 Describes the trabecular pattern in the bone at
the top of thigh bone (Femur)
Xray are graded 1 through 6 according to the
disappearance of the normal trabecular pattern.
Studies have shown that a link between a singh
index of less than 3 and fracture of hip wrist and
spine

42. Metacarpal index
Thinning of cortex(feature of
osteoporosis) is most reliably
demonstrated in 2nd
metacarpal at the
diaphysis.
Normally cortical thickening should be
approximately 1/4th
to 1/3rd
the thickness
of metacarpal.

43. Medical management
Drugs
Antiresorptive
Biphosp
honates
Estrogen
receptor
modulators-
raloxifene
calciton
in
Hormone
replacemen
t therapy
Anabolic
Synthetic human
PTH-teriparatide
Newer options:
Denosumab- human monoclonal antibody to RANKL.
Zolendronic acid
Strontium ranelate

44. Physical therapy treatment
Posture exercises
Regular exercise- walking
Spinal orthosis
Supports – belts collor etc.

45. Tai Chi
Neuromuscular coordination, Low velocity of muscle contraction,
Low impact and Minimal weight bearing.
In a case control study in postmenopausal women t’ai
chi significantly reduced trabecular bone loss in
tibia( Qin et al., 2002)
Meta-analysis of studies that evaluated the effect
of tai chi on bone mineral density change at
the spine in comparison with no treatment found no
statistically significant effects (weighted mean
difference 0.02, 95% confidence interval: -0.02 to
0.06, p=0.31; three RCT There was no evidence of
statistical heterogeneity.

46. A meta-analysis has reported that mixed impact
loading programs including low-moderate
impact exercises such as jogging, walking
and stair climbing were most effective for
preserving BMD at the lumbar spine and femoral
neck when combined with resistance training.
Nilsson et.al Stabilization training(ST) compared
with manual treatment(MT) in subacute and
chronic low back pain.
47 patients were randomized to ST and MT.
6weeks treatment program on weekly basis
stabilizing treatment seemed to be more
effective than MT interm of improvement of
individual and reduced need for recurrent
treatment periods

47. PAGETS DISEASE (Osteitis Deformans)
 Paget's disease of bone was first described by Sir James
Paget in 1877.
Paget's is caused by the excessive breakdown and
formation of bone, followed by disorganized bone
remodeling. This causes affected bone to weaken, resulting
in pain, misshapen bones, fractures and arthritis in the
joints near the affected bones.
Rarely, it can develop into a primary bone cancer known
as Paget's sarcoma.

48. Pain: typically a deep-seated ache of the
bone, which can be present both at rest
and on exercise. Worse at night.
Shooting pains from the affected area
may also occur.
Deformity: sabre tibia ( is a malformation
of the tibia)

49. Diagnosis
Paget's
disease of
bone
Calcium Phosphat
e
Alkaline
Phosphat
e
Parathyr
oid
Hormone
Commen
t
unaffected unaffected variable
(dependin
g on stage
of
disease)
unaffected abnormal
bone
architectu
re
X-Ray
Bone Scan
Blood Tests

50. Radiography :

51. Treatment
Bisphosphonate medicines: etidronate,
pamidronate, risedronate and zoledronic
acid.
NSAIDS
 Analgesics
 intake 1000-1500 mg of calcium and at
least 400 U of vitamin D daily.

52. PHYSICAL THERAPY
TENS
Hydrotherapy
Accupuncture
Assistive devices: cranes
shoe modifications, Bracing
Strengthening muscles around the joints
Improvements in cardiovascular function
avoid impact activities such as jogging,
running, jumping, and aggressive forward
bending and twisting exercises

53. OSTEOGENESIS
IMPERFECTA
Osteogenesi imperfecta, also known as brittle bone
disease or Lobstein syndrome
 congenital bone disorder characterized by brittle
bones that are prone to fracture.
genetic disorder
Affects both bone quality and bone mass.

54. DIAGNOSIS
skeletal deformities
multiple past fractures
skin biopsy is used to determine
if there is enough type I collagen
or if the collagen is abnormal
DNA testing is accomplished by
means of a blood test that is
examined to locate the genetic
mutation.
Ultrasound imaging can be used to help
diagnose OI before the child is born. The more
severe the type of OI, the earlier ultrasound
imaging can detect the fractures and
deformities. By 14-16 weeks, type II OI is
usually possible to diagnose. Type III OI is
possible to diagnose around 16-18 weeks
gestation. Types I and IV are generally not
diagnosed with ultrasound.

55. TREATMENT
Bisphosphonates such as Pamidronate are used to
decrease the amount of bone resorption. Studies have
found that children with OI that are given
Pamidronate intravenously every one to four months
have shown decreases in bone pain, an increased
sense of well being, and rise in vertebral bone mass.

56. PHYSICAL THERAPY
strengthen muscles
cardiovascular fitness
weight control
light resistance
exercises to strengthen
the hips and the core.

57. HYPERPARATHYROIDISM
Osteitis Fibrosa , Cystica, Von Recklinghausen’s
Disease
disorder caused by oversecretion of parathyroid
hormone (PTH) by one or more of the four
parathyroid glands
disorder can disrupt calcium, phosphate, and
bone metabolism
Primary hyperparathyroidism develops when
there is an imbalance between serum calcium
levels and PTH secretion. 10% hereditary.
Secondary hyperparathyroidism occurs when the
glands have become enlarged due to
malfunction of another organ system.

58. Clinical Features
Equally afftects males and females
Severe pain , tenderness.
Pathological fractures
Deformities of limbs and spine
Generalised muscle weakness

59. Diagnosis
Blood tests are used to indicate how much
calcium, PTH and phosphorus are in the
blood. If an elevated amount of any of
these is found in the blood it may be
indicative of over activity of the
parathyroid glands.
Bone mineral density test
Urine test
Imaging test of kidney

60. TREATMENT
Conservative management based on the
signs and symptoms.

61. References
1. Christopher Bulstrode, Joseph Buckwalter, Andrew Carr. Oxford
Textbook of Orthopaedic and Trauma. Volume 1.
2. Manish Kumar Varshney. Essential Orthopaedics Principles and
Practice.
3. Stuart L. Weinstein , Joseph A. Buckwalter. Turek’s
Orthopaedics. Principles And Their Application.
4. Millers. Review Of Orthopaedics. 4th Edition.
5. Robert. B. Salter. Textbook Of Disorders And Injuries Of
Musculoskeletal System. 2nd Edition.
6. J. Maheshwari. Essential Orthopaedics. 4th Edition.
7. John Ebnezar. Essentials Of Orthopaedics For Physiotherapist. 2nd
Edition.