Metabolic Bone Diseases Flashcards

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1
Q

This deck covers:

A

Paget’s Disease
Rickets/Osteomalacia
Osteogenesis Imperfecta

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2
Q

What is Paget’s Disease?

A

A localised disease of increased bone turnover.

Resorption increases and leads to increased formation

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3
Q

What effect does Paget’s disease have on bone?

A

It becomes extremely disorganised:
- Bigger
- Less Compact
- More vascular
- More susceptible to deformity & fracture

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4
Q

How are you likely to see a case of Paget’s disease?

A

70% of cases are asymptomatic so the commonest finding is an elevated serum ALKP

  • Deep boring bone pain & local heat
  • Bone deformity or fracture
  • Nerve damage (mostly hearing loss)
  • ~Osteosarcoma
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5
Q

How do we test for Paget’s disease?

A

Blood tests:
- ALKP raised
- Ca & PO4 normal

Can x-ray for lytic lesions and thickened bone cortices

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6
Q

How do we treat Paget’s Disease?

A

Analgesia is first line, if it’s asymptomatic after that don’t fuck with it.

If analgesia isn’t sufficient:
- IV bisphosphonates

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7
Q

What are rickets and osteomalacia?

A

Diseases of insufficient bone mineralisation due to a deficiency of Vit D or Ca

In this there is still a normal bone volume but it is unmineralised. In osteoporosis its the opposite.

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8
Q

What’s the difference between rickets and osteomalacia?

A

Rickets occurs in growing kids
Osteomalacia occurs in adults after closure of the epiphyseal plates

They present differently

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9
Q

How would a case of rickets present in an infant?

A

Growth retardation
Apathy and hypotonia

They may also show deformities e.g. wide joints, odd shaped ribs, persistant fontanelles & oddly curved spine

Kids with rickets are obviously ill

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10
Q

How might rickets change when a child starts walking?

A

Can notice bow legged or knock kneed as well as the aforementioned:
- Growth retardation
- Wide joints (elbows, wrist, ankles)
- Curved spine
- Large forehead/fontanelles

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11
Q

How might osteomalacia present?

A

In adults with:
- Bone pain/tenderness
- Proximal myopathy (waddling gait)
- Increased falls & fractures

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12
Q

How do we test for Rickets & Osteomalacia?

A

Bloods:
- Low calcium
- Low phosphate
- high PTH
- high ALKP

Bone biopsy

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13
Q

How do we treat Rickets & osteomalacia?

A

Look for any thing that could cause a deficiency e.g. Liver damage, anti-convulsant drugs, renal failure or malabsoption disorders

Assuming it’s a primary deficiency then treat with Ca & Vit D supplements

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14
Q

What is Osteogenesis Imperfecta?

A

A genetic disorder of absent/defective type 1 collagen that is characterized by fractures due to mild trauma or activities of daily living

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15
Q

When does OI onset?

A

Can be from pre-natally fatal all the way up to 40yr olds diagnosed with “Early onset OP”

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16
Q

How does OI present?

A

Main thing is easy fractures but also:
- Growth deficiency
- Dentigenesis imperfecta
- Hearing loss
- Blue sclera (Vitreous humour is blue, the sclera become see through)
- Scoliosis or barrel chest
- Ligamentous laxity
- Easy bruising

17
Q

What is ligamentous laxity?

A

An effect of OI, essentially its joint hypermobiltiy

Scored using the beighton score

18
Q

How do we manage osteogenesis imperfecta?

A

Surgical management of fractures
IV bisphosphonates to prevent fractures
Education & Social adaptations to prevent fractures

Potentially genetic counselling