Bone Disease ll

Question 1

What is Osteomalacia/ Rickets?

Answer 1

Osteomalacia (adults)
Rickets (children)
Softening of bone caused by inadequate mineralisation (Vit D, Cal, Phospho)
Could also be absorption issue

Question 2

What’s the symptom of osteomalacia?

Answer 2

Initially bone pain
Increased fracture risk
Bone malformation in children

Question 3

How do you diagnose Osteomalacia?

Answer 3

Blood analysis
Radiograph
DXA but can’t tell difference between osteomalacia and osteoporosis

Question 4

How do you treat Osteomalacia?

Answer 4

Vitamin D supplementation

Corrective surgery

Question 5

What’s Paget’s disease?

Answer 5

Disorder of bone remodelling.
Increased osteoclast or osteoblast activity
Various causes- genetic, virus, air pollution.

Question 6

What are the symptoms of Paget’s disease?

Answer 6

Increased fracture risk
CVD
Arthritis
Kidney stones

Question 7

How do you diagnose Paget’s disease?

Answer 7

Radiographs- cortical thickening, accentuated trabecular structure
Blood- high ALP (alkaline phosphatase) with normal calcium/ phosphorous

Question 8

What’s the treatment for Paget’s disease?

Answer 8

Bisphosphonates/calcitonin (slows osteoclast activity & suppresses ALP)
Surgery (replace damaged joints, improve fracture healing)

Question 9

What’s osteogenesis imperfecta?

Answer 9

Insufficient or poor quality bone collagen.

Caused by genetics

Question 10

What’s the symptoms of osteogenesis imperfecta?

Answer 10

Increased fracture risk
Hearing loss
Joint/spine malformation
Weak muscles

Question 11

How do you diagnose osteogenesis imperfecta?

Answer 11

Skin biopsy- collagen properties
Blue sclera- discolouration of whites of eyes (blue/ grey colour)
Genetic testing

Question 12

How can you treat osteogenesis imperfecta?

Answer 12

Bisphosphonates
Vibration/exercise treatments
Surgery to strengthen and support bones

Question 13

What is osteopetrosis?

Answer 13

Excessive bone density
Caused by impaired bone reabsorption by osteoclasts
Two main types:
1) common mild type (often detected in adulthood)
2) rarer infant onset may be fatal/ affect growth and development.

Question 14

What are the symptoms of osteopetrosis?

Answer 14

Increased bone fracture risk
Compression of nerves
Reduced cavity space (low WBC/RBC)

Question 15

How to diagnose osteopetrosis?

Answer 15

Radiograph- high density white bones and cortical thickening.

Question 16

How is osteopetrosis treated?

Answer 16

Total bone marrow transplant

Calcitriol (activated VitD) stimulates osteoclasts

Question 17

What is Achondroplasia?

Answer 17

Impaired bone growth particularly long bones (skull & ribs not effected)
Genetic basis- 80% spontaneous, 20% inherited
Caused chondrocytes to proliferate slowly and disorganise.

Question 18

How do you diagnose Achondroplasia?

Answer 18

Prenatal ultrasound
Skeletal survey
DNA test

Question 19

How is Achondroplasia treated?

Answer 19

Limb lengthening
Limited effect of human growth hormone
Vorisitide- stage 2 trial (50% inc in limb length)