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

3rd Year - MSK Diseases > 7.2. Metabolic Bone Disease - Paget's Disease and Osetogenesis Imperfecta > Flashcards

Flashcards in 7.2. Metabolic Bone Disease - Paget's Disease and Osetogenesis Imperfecta Deck (19):

What is Paget's Disease a disorder of?

Bone Turnover


What is the Pathogenesis of Paget's Disease?

There is increased Bone Resorption followed by increased Bone Formation


What does the Increased Bone Turnover lead to?

A Dis-organised Bone:
1. Bigger
2. Less Compact
3. More Vascular
4. More Susceptible to Deformity
5. More Susceptible to Fracture


What is the Aetiology of Paget's Disease?

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


What are the symptoms of Paget's Disease?

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


What are the Clinical Signs of Paget's Disease?

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


What is the Treatment of Paget's Disease?

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


What is Osetogenesis Imperfecta a disorder of?

It is a Genetic Disorder of Connective Tissue


What characterises Osetogenesis Imperfecta?

Fragile Bones from Mild Trauma and acts of daily life


How broad is the Clinical Range of Osetogenesis Imperfecta?

Very, ranging from:
1. Potentially Fatal
2. 40's with early Osteoporosis


How many Types of Osetogenesis Imperfecta are there?



What are the 4 types of Osetogenesis Imperfecta?

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


What are the Clinical Features of Osetogenesis Imperfecta?

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


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

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


What is the Surgical Management used for?

To treat the Fractures


What is the Medical Management used for?

To prevent Fracture


What is the Medical management used?

Intravenous Bisphosphonates


What does the Social Management include?

1. Adaptions educationally
2. Adaptions Socially


What does the Genetic Management include?

Genetic Counselling for parents / next generation

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