27: Metabolic Bone Disease and Osteoporosis Flashcards

1
Q

Osteoporosis definition

A
  • a systemic skeletal disease characterised by reduced bone mass and altered micoarchitecture of bone tissue, leading to increased bone fragility and a consequent increase in fracture risk.
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2
Q

what DEXA scan T-score indicates osteoporosis?

A

-2.5 or lower

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3
Q

osteoporosis risk factors

SHATTERED FAMILY

A
  • Steroid use
  • Hyperthyroidism, hyperparathyroidism
  • Alcohol and smoking
  • Thin (BMI < 22)
  • Testosterone deficiency
  • Early menopause
  • Renal/liver failure
  • Erosive/inflammatory bone disease
  • Diabetes
  • FAMILY history
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4
Q

osteoporosis signs and symptoms

A
  • back pain, caused by a fracture or collapsed vertebra
  • loss of height over time
  • a stooped posture
  • a bone fracture that occurs much more easily than expected
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5
Q

what are the diagnostic investigations for osteoporosis?

A
  • DEXA-scan (Gold standard) with a T-score:-2.5 or lower indicating osteoporosis.
  • x-rays for suspected fractures
  • MRI of the spine to assess vertebral fractures
  • blood tests to exclude metabolic bone diseases and assess vitamin D, calcium and hormone levels
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6
Q

what does a DEXA scan T-score between -1 and -2.5 indicate?

A

osteopenia (low bone density)

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7
Q

describe the FRAX score

A
  • Fracture Risk Assessment Score used to estimate the 10-year probability of a major osteoporotic fracture.
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8
Q

interpret FRAX scores

A
  • normal: 10-year probability < 10%
  • osteopenia: 10-year probability 10-20%
  • osteoporosis: 10-year probability > 20%
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9
Q

discuss lifestyle modifications to help manage osteoporosis

A
  • reducing risk factors e.g. quitting smoking, improving diabetic control
  • ensuring adequate vitamin D, calcium and protein intake
  • regular weight-bearing exercise
  • use of hip protectors in nursing home patients
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10
Q

discuss the pharmacological treatment of osteoporosis

A
  • bisphosphonates are first-line
  • other second-line treatments include denosumab, raloxifene, HRT, teriparatide and strontium ranelate.
  • vitamin D and calcium supplements should be consdiered if there is evidence of deficiency
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11
Q

bisphosphonates side-effects

A
  • common side effects include GI symptoms (e.g., dyspepsia, oesophagitis), MSK pain
  • rarely osteonecrosis of the jaw and atypical femoral fractures
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12
Q

how should bisphosphonates be taken?

A

on an empty stomach, with a full glass of water, and the patient should remain upright for at least 30 mins after ingestion

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13
Q

osteomalacia definition

A
  • A metabolic bone disease that features osteopenia and disordered bone calcification, resulting in an excess of osteoid, or unmineralised, mainly collagenous, tissue.
  • due to severe vitamin D or calcium deficiency
  • this process occurs after the closure to the epiphyses, distinguishing it from rickets.
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14
Q

osteomalacia epidemiology

A

Osteomalacia tends to be more prevalent in populations with limited sunlight exposure or with dietary restrictions that limit the intake of vitamin D. It can affect adults of any age, but is more common in older adults and in women, especially during pregnancy or breastfeeding due to their increased vitamin D requirements.

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15
Q

osteomalacia and rickets aetiology

A

Primary cause is vitamin D deficiency, which can arise from:
- inadequate dietary intake of vitamin D
- insufficient sunlight exposure
- malabsorption disorders such as coeliac disease or IBD
- the presence of melanin in darker skin types, which lowers skins ability to produce vitamin D from sunlight
- increased demand, such as during pregnancy or breastfeeding

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16
Q

osteomalacia signs and symptoms

A
  • pain in the lower back, hips and pelvis
  • pseudofractures, or Looser’s zones, which are areas of incomplete stress fractures
  • bone tednerness
  • muscle weakness
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17
Q

investigations to confirm osteomalacia typically include:

A
  • blood tests to check for low levels of vitamin D, calcium and phospahte, and to assess kidney function
  • bone biopsy, considered the gold-standard for diagnosis
  • imaging studies such as X-rays to identify pseudofractures or other bone abnormalities
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18
Q

The management of osteomalacia primarily involves:

A
  • replenishing vitamin D, calcium and phosphate levels through dietary changes or supplementation
  • addressing the underlying cause, such as improving sunlight exposure, treating malabsorption disorders, or adjusting medication that interferes with vitamin D metabolism
  • regular monitoring to ensure adequate treatment response and prevent recurrence
19
Q

osteomalacia differential diagnoses

A
  • osteoporosis:
  • Rickets: occurs prior to epiphyseal closure
  • Paget’s disease of bone
20
Q

Ricket’s definition

A
  • a paediatric skeletal disorder caused by a deficiency or impaired metabolism of vitamin D, calcium, or phosphate.
  • it results in an inability to adequately mineralise the bone matrix of growing bone, causing soft and deformed bones.
  • osteomalacia but before epiphyseal plate has fused
21
Q

Rickets signs and symptoms

A
  • bowed legs or knock knees
  • bone pain
  • stunted growth
  • dental deformities
  • skeletal deformities such as pigeon chest or spinal curvature
  • muscle weakness
  • in severe cases, bone fragility and fractures
  • hypocalcaemia, which may cause seizures and intellectual deficiency
22
Q

Paget’s disease definition

A
  • a pathological condition involving one or more bones, resulting in deformities due to abnormal bone breakdown and subsequent formation.
  • the bones most often affected include the pelvis, vertebrae, skull, femur and tibia.
23
Q

Paget’s disease risk factors

A
  • age over 40 years
  • family history of Paget’s disease (15-30% are familial, loci of SQSTMI)
  • Anglo-saxon descent
24
Q

Paget’s disease pathogenesis

A
  • involved increased osteoclast activity initially, followed by heightened osteoblast activity
  • this leads to disorganised bone breakdown and formation
  • eventually, in some patients, the condition ‘burns out’ and bone resorption and formation reduces, leaving an abnormal bone structure which is composed of a mixture of lamellar and woven bone
25
Q

Paget’s disease diagnostic investigations

A
  • x-ray: early findings may include osteolysis, later findings can show increased bone size, sclerosis, osteolytic lesions and pathological fractures.
  • blood tests: elevated ALP levels indicate bone resorption and can be used for monitoring disease activity, calcium and phsophate levels typically remain normal
26
Q

Paget’s disease management

A
  • analgesics
  • bisphosphonates such as alendronic acid or pamidronic acid to inhibit osteoclast activity > one-off IV of zoledronic acid
  • treatment typically lasts 6 months
  • regular monitoring every 6 or 12 months
27
Q

Paget’s disease complications

A
  • Pathological fracture
  • High output heart failure
  • Nerve entrapment - deafness, optic nerve atrophy, carpal tunnel, cord compression, spinal canal stenosis
  • Osteoarthritis
  • Osteosarcoma
  • Kidney stones
  • Bone deformity
28
Q

Paget’s disease clinical presentation

A
  • isolated elevation of ALP, most common presentation
  • bone pain and local heat
  • bone deformity or fracture
  • hearing loss
  • rare development of osteosarcoma in affected bone
  • age > 40
29
Q

what would a bone profile look like in someone with rickets or osteomalacia?

calcium, ALP, PTH, vitamin d

A
  • low calcium
  • raised ALP
  • raised PTH
  • verly low vitamin D
30
Q

why is vitamin D important for bone formation?

A

Vitamin D stimulates the absorption of calcium and phosphate from the gut and calcium and phosphate then become available for bone mineralisation

31
Q

what is osteogenesis imperfecta?

A

Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a genetic disorder characterized by defective type I collagen, resulting in fragile bones and low trauma fractures.

32
Q

what causes osteogenesis imperfecta?

A
  • caused by mutations in the COL1A1 and COL1A2 genes, which code for the alpha chains of type I collagen.
  • these mutations can lead to either a decrease in the amount of collagen produced or the formation of structurally abnormal collagen molecules, thereby increasing bone fragility.
33
Q

osteogenesis imperfecta signs and symptoms

A
  • frequent fractures often from minimal trauma
  • short stature or growth deficiency
  • blue sclera caused by underlying choroidal veins being visible through thin sclera
  • defective tooth formation (dentiogenesis imperfecta)
  • conductive or sensorineural hearing loss
  • scoliosis due to weak spinal bones
  • ligament laxity leading to joint hypermobility
  • easy bruising
34
Q

osteogenesis imperfecta investigations

A
  • genetic testing: to identify mutations in COL1A1 and COL1A2 genes
  • imaging: x-rays to identify fractures and assess bone density
  • audiologic evaluations: to identify any hearing loss
35
Q

which type of osteogenesis imperfecta causes death at birth or shortly after?

A

type II

36
Q

what is the collagen produced in type I osteogenesis imperfecta like?

A

normal collagen structure, but less than normal amount is produced

37
Q

which type of osteogenesis imperfecta is the most severe type among those who survive the neonatal period and usually results in the greatest number of physical disabilities?

A

type III due to improperly formed collagen

38
Q

what is the management for osteogenesis imperfecta

A
  • surgical: to treat fractures
  • medical: to prevent fracture with IV bisphosphonates
  • genetic counselling
39
Q

what % of women over 50 will have an osteoporotic fracture before they die?

A

1 in 2

40
Q

what % of men over 50 will suffer an osteoporotic fracutre before they die?

A

1 in 5

41
Q

list some endocrine causes of osteoporosis

A
  • thyrotoxicosis
  • hyper and hypoparathyroidism
  • Cushing’s
  • hyperprolactinaemia
  • hypopituitarism
  • early menopause
42
Q

list some rheumatic causes of osteoporosis

A
  • RA
  • ankylosing spondylitis
  • polymyalgia rheumatica
43
Q

list medications which can cause osteoporosis

A
  • steroids
  • PPI
  • enzyme inducting antiepileptic medications
  • aromatase inhibitors
  • GnRH inhibitors
  • warfarin
44
Q

HRT can be used to treat osteoporosis. What are its side effects?

A
  • increased risk of blood clots
  • increased risk of breast cancer with extended use into late 50s/early 60s
  • increased risk of heart disease and stroke if used after large gap from menopause