Paget's

Question 1

what is the typical presentation of paget’s?

Answer 1

Bone pain (gradual), nerve compression (sciatica, hearing loss), bone bossing, kyphosis, warm skin over painful area (don’t fit into shoes or hats) - norm U&Es but high ALP (serum CTX and P1NP)

Question 2

Define Pagets

Answer 2

A chronic bone disorder that is characterised by focal areas of increased bone remodelling, resulting in overgrowth of poorly organised bone. This unbalanced process may lead to osseous deformities, altered joint biomechanics, nerve compressions, and pathological fractures.

Question 3

what is the inheritance pattern of paget’s?

Answer 3

autosomal dominant

Question 4

outline the aetiology/ risk factors of Paget’s?

Answer 4

unknown

family history= autosomal dominant

viral infection?

more than 55 years old

Question 5

outline the pathophysiology of Paget’s?

Answer 5

Localised area of metabolic hyperactive bone

Abnormally large osteoclasts with XS nuclei => large resorption pits and cavities

osteoblast activity is increased so that the newly formed bone don’t have time to organise properly

Newly formed bone is less resistant and more elastic => deformities + microfractures

Question 6

what are the 3 phases of the evolution of paget’s?

Answer 6

1. An initial, short-livedburst of multinucleate osteoclastic activitycausing bone resorption
2. A mixed phaseof both osteoclastic and osteoblastic activity, with increased levels of bone turnover leading to deposition of structurally abnormal bone
3. A final chronic sclerotic phase, during which bone formation outweighs bone resorption.

Question 7

Summarise the epidemiology of Paget’s disease of bone

Answer 7

Majority are sporadic cases

Some have a FHx

Mean age of onset is 55yrs

Question 8

what are the presenting symptoms and signs of Paget’s?

Answer 8

Asymptomaticin most patients – usually incidental finding

Pelvis, long bones, and skullare most common sites of abnormal bone

May cause back pain

Fractures

Frontal bossing– increase the size of their headwear

Prognathism- affected patients note progressive enlargement of the mandible

Increased local temp

If skull involvement => facial pain and hearing loss

Question 9

what are the appropriate investigations for Paget’s and what do the results show?

Answer 9

X-rays showing lytic changes, occasionally fractures, scleroticpicture (later stages)

Bone scans – but non-specific- highlights areas of stress and microfractures

Total ALP – may be elevated or normal

Bone-specific ALP– much more specific and is used as an index for treatment response

P1NP and CTX- used as a marker for bone formation and index for treatment response- initally elevated, treatment may normalise values

Vit D levels should be normal– used to differentiate this from osteomalacia and fibrous dysplasia

LFTs- monitor for liver disease causing increase in ALP