7.2. Metabolic Bone Disease - Paget's Disease and Osetogenesis Imperfecta

Question 1

What is Paget’s Disease a disorder of?

Answer 1

Bone Turnover

Question 2

What is the Pathogenesis of Paget’s Disease?

Answer 2

There is increased Bone Resorption followed by increased Bone Formation

Question 3

What does the Increased Bone Turnover lead to?

Answer 3

A Dis-organised Bone:

1. Bigger
2. Less Compact
3. More Vascular
4. More Susceptible to Deformity
5. More Susceptible to Fracture

Question 4

What is the Aetiology of Paget’s Disease?

Answer 4

1. Strong Genetic Component:
2. a) 15-30% are Familial
3. b) Loci of SQSTM1 gene
4. c) Restricted geographical distribution - Anglo-Saxon Origins
5. Environmental Trigger: Possible Chronic Viral Infection with Osteoclasts

Question 5

What are the symptoms of Paget’s Disease?

Answer 5

1. Bone pain (occasionally with deformity)
2. Excessive heat over the Pagetic Bone
3. Neurological Complications (e.g. Nerve Deafness)

Question 6

What are the Clinical Signs of Paget’s Disease?

Answer 6

1. Isolated elevation of Serum Alkaline Phosphatase
2. Bone pain + Local Heat
3. Bone Deformity + Fracture
4. Hearing Loss
5. Development of Osteosarcoma (Rare)

Question 7

What is the Treatment of Paget’s Disease?

Answer 7

1. None in Asymptomatic unless in Skull / Area requiring Surgical Intervention
2. I.V. Bisphosponate therapy
3. One off I.V. Zoledronic Acid
   Note - this is not treated based on Alkaline Phosphatase alone

Question 8

What is Osetogenesis Imperfecta a disorder of?

Answer 8

It is a Genetic Disorder of Connective Tissue

Question 9

What characterises Osetogenesis Imperfecta?

Answer 9

Fragile Bones from Mild Trauma and acts of daily life

Question 10

How broad is the Clinical Range of Osetogenesis Imperfecta?

Answer 10

Very, ranging from:

1. Potentially Fatal
2. 40’s with early Osteoporosis

Question 11

How many Types of Osetogenesis Imperfecta are there?

Answer 11

4

Question 12

What are the 4 types of Osetogenesis Imperfecta?

Answer 12

Type 1 - Milder form (when a child starts to walk / can present in adults)
Type 2 - Lethal by Age 1
Type 3 - Progressive Deforming with Severe Bone Dysplasia
Type 4 - Similar to Type 1 but more severe

Question 13

What are the Clinical Features of Osetogenesis Imperfecta?

Answer 13

1. Growth Deficiency
2. Defective Tooth Formation
3. Hearing Loss
4. Blue Sclera
5. Scoliosis
6. Barrel Chest
7. Ligamenous Laxity
8. Easy Bruising

Question 14

What are the categories of management of Osetogenesis Imperfecta which need to be considered?

Answer 14

1. Surgical
2. Medical
3. Social
4. Genetic

Question 15

What is the Surgical Management used for?

Answer 15

To treat the Fractures

Question 16

What is the Medical Management used for?

Answer 16

To prevent Fracture

Question 17

What is the Medical management used?

Answer 17

Intravenous Bisphosphonates

Question 18

What does the Social Management include?

Answer 18

1. Adaptions educationally

2. Adaptions Socially

Question 19

What does the Genetic Management include?

Answer 19

Genetic Counselling for parents / next generation