Metabolic Bone Diseases Flashcards

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