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Musculoskeletal > Metabolic Bone Disease > Flashcards

Metabolic Bone Disease Flashcards

1
Q

What are metabolic bone diseases?

A

Any of several diseases that cause various abnormalities or deformities of bone

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2
Q

Name some metabolic bone diseases

A
  • Osteoporosis
  • Rickets
  • Osteomalacia
  • Osteogenesis Imperfecta
  • Marble Bone Disease (osteopetrosis)
  • Paget Disease
  • Fibrous Dysplasia
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3
Q

Describe the pathology of osteomalacia

A

Incomplete mineralisation of bone matrix in adults following bone fusion

These bones are therefore softer, can bend, crack and become painful

Symptoms include bone pain, muscle weakness and partial fractures

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4
Q

What are causes of osteomalacia?

A
  • Vit D Deficiency
  • Calcium deficiency (rare cause)
  • Phosphorus deficiency
  • Untreated coeliac
  • liver disease
  • kidney failure
  • epilepsy tablets
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5
Q

Describe vit d deficiency in osteomalacia

A

Body needs around 10ug/400 units of Vit D a day to protect from osteomalacia

Less than this puts at risk

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6
Q

Describe tests carried out to diagnose osteomalacia

A

Blood tests

  • calcium
  • phosphorus
  • vit D
  • alkaline phosphatase (produced by osteoblasts) may be raised
  • PTH raised due to body’s reaction to condition
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7
Q

What treatment is used for osteomalacia?

A

If caused by deficiency Vit D - vit D supplements

Calcium supplements may help bone healing

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8
Q

Common presenting complaint in patients with osteoporosis

A

Broken wrist, hip or vertebrae

Not usually painful until a bone is broken

Some older patients will develop characteristic stooped posture

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9
Q

What is the stage of bone loss before osteoporosis?

A

Osteopenia

This is when a bone density scan shows you have lower bone density than average for your age but not low enough to be classed as osteoporosis

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10
Q

What are causes of osteoporosis?

A

Women > men

Risk factors include

  • high dose steroids > 3 months
  • other medical conditions i.e. inflammatory conditions
  • FH of osteoporosis
  • heavy smoking and drinking
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11
Q

How is osteoporosis diagnosed?

A

Bone density scan (DEXA)

  • measured as a Standard deviation
  • above -1 is normal
  • between -1 and -2.5 shows bone loss and is defined as osteopenia
  • below -2.5 shows bone loss defined as osteoporosis
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12
Q

How is osteoporosis treated?

A

Treat and prevent broken bones, take medication to strengthen bones

Bisphosphonates
SERMS
Parathyroid Hormone
Calcium and Vit D Supplements

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13
Q

How do bisphosphonates work in treatment of osteoporosis?

A

Maintain bone density by reducing rate at which bone is broken down

Includes

  • alendronic acid
  • ibandronic acid
  • risedronic acid
  • zoledronic acid

Tablets or injections

Main side effects include oesophageal irritation, swallowing problems, stomach pain

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14
Q

What are SERMS (osteoporosis treatment)?

A

Selective oestrogen receptor modulators

Similar effect as hormone oestrogen; help maintain bone density and reduce risk fracture

Raloxifene taken as daily tablet

Side effects include hot flushes, leg cramps, potential increase risk blood clots

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15
Q

Describe the use of parathyroid hormone treatments in Osteoporosis

A

i.e. teriparatide

Used to stim cells to create new bone

Given by injection

Can increase bone density but only used in small number of people whose bone density very low and other treatments not working

Common side effects; nausea and vomiting

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16
Q

Describe rickets

A

Condition affecting bone development in children

Causes bone pain, poor growth and soft, weak bones

can lead to bone deformities

17
Q

What are causes of rickets?

A

Lack of Vit D or calcium most common

Rarely genetic form

Can also develop if another condition affects how minerals and vitamins are absorbed by the body

18
Q

Describe hereditary hypophosphatemic rickets

A

Genetic congenital condition related to low phosphate levels in blood

Signs and symptoms generally begin early childhood

19
Q

Describe treatment of rickets

A

ensuring children eat foods containing calcium and vit D or taking vitamin supplements

20
Q

Describe osteogenesis imperfecta

A

AKA brittle bone disease, a genetic condition present from birth

Results in bones that break easily

21
Q

DEscrieb the pathology of osteogenesis imperfecta

A

A defect where collagen (protein responsible for bone structure) missing, reduced or low quality

Makes bones weak and easy to fracture

22
Q

Signs and symptoms of osteogenesis imperfecta

A

Range from mild to severe

  • fractures w/ minimal force
  • bones may have altered shape
  • whites of eyes more blue/grey
  • hypermobile/v flexible joints
  • joint or bone pain
  • problems with teeth formation
23
Q

Describe the diagnosis of osteogenesis imperfecta

A

Mostly clinical diagnosis

X-rays to assess for fractures and bone changes

DEXA for children >10kg

24
Q

Describe treatment of osteogenesis imperfecta

A

Physiotherapy

Management of symptoms

Main meds are pamidronate and zoledronic acid (bisphosphonates; prevent loss of bone mass)

Vit D supplements recommended

25
Q

Describe osteopetrosis

A

AKA marble bone disease, where bones become extremely dense, hard and brittle

Progresses as long as bone growth occurs, with marrow cavities becoming filled with compact bone

Due to reduced marrow, severe anaemia results

26
Q

What are the types of osteopetrosis?

A

Congenital and acquired

Congenital forms associated with decreased number of osteoclasts or decreased osteoclast function (autosomal dominant most common)

Acquired usually caused by fluoride deposition in bone tissue resulting in growth of dense but brittle bone

27
Q

How is osteopetrosis diagnosed?

A
  • Clinical evaluation
  • Detailed Hx
  • Xray and measurement of bone mass density

-Biochemical findings i.e. raised conc creatinine kinase BB isoenzyme, tartrate resistant phosphatase also help

28
Q

Symptoms of osteopetrosis

A

Fractures
Low blood cell production
Loss of cranial nerve function
- blindness, deafness, facial nerve paralysis

29
Q

Describe x-ray findings in a patient with osteopetrosis

A

Symmetrically generalised osteosclerosis

Long bones may have broadened metaphyses resulting in “Erlenmeyer flask” deformity

30
Q

Describe management of a patient with a diagnosis of osteopetrosis

A

Once diagnosed;

  • bloods including serum calcium, PTH, phosphorus, creatinine, 25-hydroxyVitD, FBC, creatine kinase isoenzymes and lactate dehydrogenase
  • brain MRI to assess cranial nerve involvement, hydrocephalus and vasc abnorms
31
Q

Describe treatment of osteopetrosis

A

Hematopoietic stem cell transplantation (HSCT)

32
Q

What is the most common gene in osteopetrosis?

A

TCIRG1 mutations

33
Q

Describe Paget’s disease

A

Disrupts normal cycle of bone renewal, causing weakened and possibly deformed bones

Symptoms include; constant dull bone pain, joint pain stiffness and swelling, shooting pain traveling along or across body

Many cases asymptomatic

34
Q

Describe the pathology in Paget’s disease

A

Excessive osteoclastic bone resorption followed by compensatory increased osteoblast activity

Leads to non- structrued, fibroblastic and mechanically unstable bone

35
Q

Treatments for Paget’s disease

A

No cure

Symptom alleviation

Bisphosphonates; control bone regeneration

Painkillers

Supportive; physio, OT, walking sticks, shoe inserts

Surgery; if further problems develop i.e. fractures, deformities, severe joint damage

36
Q

What problems can Paget’s disease cause?

A

Fragile bones leading to fractures

Enlarged or mis-shapen bones

Permanent hearing loss (if skull affected)

Hypercalcaemia

37
Q

How is Paget’s disease diagnosed?

A

Blood test;
- alkaline phosphatase raised

X-ray to confirm;

  • enlarged bones
  • special type called scintigraphy to check how much of body affected (radiation will uptake where there is high bone reformation)
38
Q

Describe scintigraphy

A

A small amount of radioactive substance injected/swallowed

Gamma camera used to monitor disease

39
Q

What bisphosphonates are used in treating Paget’s?

A

Risedonate; table once a day for two months

Zoledronate; one off injection

Pamidronate; six weekly injections or three fortnightly injections

Musculoskeletal (16 decks)

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