Paget's Disease of Bone

Question 1

Define Paget’s disease of bone.

Answer 1

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 2

Explain the aetiology/risk factors of Paget’s disease of bone.

Answer 2

Family history of Paget’s disease
Age >50 years
Male sex (45- to 74-years age group)
Infection
Environmental factors

Question 3

Summarise the epidemiology of Paget’s disease of bone.

Answer 3

It is the second most common chronic bone-remodelling disorder after osteoporosis. The majority of cases are sporadic, but between 5% and 40% of patients report a first-degree relative with Paget’s disease of bone.

Question 4

Recognise the presenting symptoms of Paget’s disease of bone. Recognise the signs of Paget’s disease on physical examination.

Answer 4

Asymptomatic
Femoral, pelvis, and/or skull involvement
Long-bone or back pain
Pathological fracture
Bony deformities (e.g., frontal bossing, prognathism, bone bowing)
Increased local temperature
Hearing loss

Question 5

Identify appropriate investigations for Paget’s disease of bone and interpret the results.

Answer 5

Plain x-ray
Bone scan
Total serum alkaline phosphatase
Bone-specific alkaline phosphatase
Serum calcium
Serum procollagen 1 N-terminal peptide (P1NP)
Serum C-terminal propeptide of type 1 collagen (CTX)
LFTs
Serum 25-hydroxyvitamin D