Metabolic Bone Disease

Question 1

what is Paget’s disease?

Answer 1

localised disorder of bone turnover

Question 2

what does Paget’s disease commonly affect?

Answer 2

long bones and the skull

Question 3

what does Paget’s disease lead to?

Answer 3

disorganised bone - bigger and less compact bone that is more vascular

Question 4

Paget’s disease genetic component?

Answer 4

SQSTMI loci

Question 5

Paget’s disease symptoms?

Answer 5

deep seated bone pain
bone deformity
excessive heat over the Pagetic bone
neurological complications

Question 6

Paget’s disease presentation?

Answer 6

isolated elevation of serum alkaline phosphatase
bone pain and deformity
fracture
hearing loss
rare development of osteosarcoma

Question 7

Paget’s disease treatment?

Answer 7

one dose of IV Zoledronic Acid

Question 8

What is oesteogenesis imperfecta?

Answer 8

genetic disorder of connective tissue characterised by fragile bones from mild trauma

Question 9

In oesteogenesis imperfecta what is there defects in?

Answer 9

type 1 collagen

Question 10

oesteogenesis imperfecta type 1-4?

Answer 10

1 - milder when child starts to walk + adults
2 - lethal by age 1
3 - progressive, deforming and poor growth
4 - similar to type 1 but more severe

Question 11

oesteogenesis imperfecta signs and symptoms? (8)

Answer 11

growth deficiency
defective tooth formation
hearing loss
blue sclera
scoliosis
barrel chest
ligamentous laxity
easy bruising

Question 12

oesteogenesis imperfecta management?

Answer 12

surgical - treat fractures
medical - IV bisphosphonates
social
genetic counselling - next generations