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MSK > Metabolic Bone Diseases > Flashcards

Metabolic Bone Diseases Flashcards

Rickets and osteomalacia Paget's disease of bone Osteogenisis Imperfecta Osteoporosis

1
Q

7 signs and symptoms of osteogenesis imperfecta

A

Growth deficiency

Defective tooth formation

Hearing loss

Blue sclera

Scoliosis - barrel chest

Ligamentous laxity

Easy bruising

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2
Q

Osteogenesis imperfecta

Treatment (4)

A

Medical - IV bisphosphonates to prevent fractures

Surgical to treat fractures

Social

Genetic

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3
Q

Rickets and osteomalacia

3 step pathogenesis

A

Severe nutritional vitamin D or calcium deficiency

Causing insufficient mineralisation

Resulting in soft weak bones

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4
Q

Why does vitamin D deficiency cause rickets/osteomalacia?

A

Vitamin D stimulates calcium absorption and phosphate from gut

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5
Q

Paget’s disease of the bone

Definition (4)

A

Localised disorder of bone turnover

Increased bone resorption

Increased bone formation

Caused disorganised bone formation

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6
Q

Describe bone structure in paget’s disease of the bone

Disorganised bone features (3)

A
  1. Bigger
  2. Less compact
  3. More vascular

So more susceptible to deformity and fracture

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7
Q

Paget’s Disease of the bone

Etiology

  • Genetic
  • Ethnicity
  • Environmental trigger (1)

Which factor is the strongest component?

A

Familial

Loci of SQSTM1

Anglo-saxon origin

Environmental trigger: chronic viral infection of osteoclast

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8
Q

Paget’s Disease of the bone

Symptoms (4)

  • Describe the classical patient (1)
  • Presentation (4)
  • Which is the commonest presentation?
A
  1. >40 yo with bone pain
  2. Occasionally presents with bone deformity/fracture
  3. Occasionally presents with excessive heat over Pagetic bone
  4. Isolated elevation of serum alkaline phosphatase
  5. Osteosarcoma in affected bone - rare

Commonest presentation - isolated elevation of serum alkaline phosphatase

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9
Q

Paget’s disease of the bone

Treatment (1)

A

Intravenous bisphosphonate - zolendronic acid

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10
Q

Osteogenesis Imperfecta

Definition (4)

A

Genetic disorder of connective tissue

characterised by fragile bones

stemming from mild trauma

Type 1 collagen

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11
Q

Osteogenesis Imperfecta

Type 3 collagen

A

Progressive deforming

severe bone dysplasia

poor growth

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12
Q

Osteogenesis Imperfecta

4 sign and symptoms

  • Name 4 bone related manifestations of the disease
A

Growth deficiency

Bone-related manifestations

  • Defective tooth formation
  • Hearing loss
  • Scoliosis - barrel chest
  • Ligamentous laxity - hypermobility

Blue sclera

Easy bruising

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13
Q

Osteoporosis Definition (5)

A

Metabolic bone disease

characterised by low bone mass

micro-architectural deterioration of bone tissue

leading to enhanced bone fragility

consequent increase in fracture risk

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14
Q

When does accelerated bone mass decline begin in a female?

A

Accelerated bone mass decline begins after menopause

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15
Q

When is DEXA bone scanning is done in post-menopausal women, what T-score is used to diagnose osteoporosis?

What T-score (range) for osteopenia

A

<2.5 SDs below young adult mean is diagnostic of osteoporosis in a DEXA bone scanning

-1 to -2.5 for osteopenia

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16
Q

FRAX vs Q fracture scores

A

FRAX is age, BMD and country specific

Q Fracture considers more variables but not BMD

17
Q

Whats the treatment threshold for osteoporosis

A

Fracture risk 20% in 10 years

18
Q

Causes of secondary osteoporosis (6)

(state headings)

A
  1. Endocrine
  2. Malabsorption
  3. Malignancy
  4. Rheumatic
  5. Drugs
  6. Amenorrhea
19
Q

State 6 endocrine causes of secondary osteoporosis

A

Hyperthyroidism

Hyperparathyroidism, Hypoparathyroidism

Growth hormone deficiency

Hyperprolactinemia

Cushing’s disease

20
Q

Name 4 malabsorptive diseases that are secondary causes of osteoporosis

A

Celiac disease

CF

Pancreatitis

Whipple’s disease

21
Q

Name 3 auto-immune inflammatory joint conditions that cause osteoporosis and their pathogenesis (one word)

A

Rheumatoid arthritis - Rx, inactivity

Ankylosing spondilytis - syndesmophytes, inactivity

PMR - increased bone resorption

22
Q

Name 6 (types) of drugs that cause osteoporosis

A
  1. Steroids - long term use
  2. Anticoagulants
  • Heparin
  • Warfarin
  1. Anticonvulsants
  2. PPI’s
  3. GNRH inibitors - GH deficiency
  4. Aromatase inhibitors - hypoestrogenism
23
Q

Name hypoestrogenism illnesses that cause osteoporosis

1 + 3 things that cause amenorrhea

A

Hyperprolactinemia

Amenorrhea

  1. Primary ovarian failure
  2. Anorexia nervosa
  3. early menopause
24
Q

Name 5 drugs used in treatment of osteoporosis

A
  1. HRT
  2. SERMs
  3. Bisphosphonates
  4. Teriparatide - PTH analogue
  5. Denosumab - Rankl ab
25
Q

Name 4 modalities of osteoporosis mx

A
  1. Minimise risk factors
  2. Ensure good calcium and vitamin D intake
  3. Falls prevention strategies - social
  4. Medications
26
Q

Denosumab

MOA, dosing, SE [3], instructions for discontinuing

A

Mab to RANKL

Subcut injections 6 monthly

SE: cellulitis, eczema, osteonecrosis of jaw

If discontinued must start patient on IV zolendronate to lock in all benefits otherwise rebound bone-remodelling

27
Q

Bisphosphonates

MOA

Name 4 and identify the most potent

SE [3]

A

MOA: inhibits bone resorption

Risendronate, alendronate, ibandronate, IV zolendronate*

SE: osteonecrosis of jaw, atypical subtrochanteric #, flu like illness

28
Q

Teriparatide

ROA and duration

MOA

SE [2]

A

ROA, duration: OD, subcut injection 18m

MOA: stimulates osteoblast activity (note endogenous PTH causes catabolic effectts but given intermittently has opposite effect)

SE: GI upset, renal toxicity

29
Q

Your patient has been on bisphosphonates for a while and asks if she can take a break from them. What do you do? [3]

A

ASSESS: After 5y of oral or 3y IV bisphosphonates do updated FRAX score and DEXA scan

30
Q

Bisphosphonate holidays: after assessment you determine whether their high or low risk. What do you do if the patient is:

  • High risk
  • What is considered high risk? [5]
  • Low risk [3]
A

If high risk

  • continue bisphosphonates indefinitely
  • >75y/o, glucocorticoid therapy, previous hip or vertebral #, high risk on FRAX or T score <-2.5 after mx

If low risk:

  • discontinue and reassess in 2y or if another # occurs

MSK (28 decks)

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