Generalised orthopaedic conditions Flashcards

1
Q

What is brittle bone disease also known as

A

osteogenesis imperfecta

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2
Q

What is osteogenesis imperfecta

A

A connective tissue disease in which the bones are of decreased density rendering them delicate and prone to fracture

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3
Q

What causes osteogenesis imperfecta

A

an abnormality of Type 1 collagen which in the eye allows the blue colour of the retina to show though

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4
Q

What is the treatment for osteogenesis imperfecta

A

none is known

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5
Q

What type of osteogenesis imperfecta is most common

A

Type 1 - autosomal dominant inheritance

Blue sclera

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6
Q

What is type 2 osteogenesis imperfecta

A

autosomal recessive inheritance

dark blue sclerae

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7
Q

What is fibrous dysplasia

A

a condition in which single or multiple cystic lesions occur in the bones

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8
Q

If the lesions in fibrous dysplasia are polyostotic, what might they be associated with

A

endocrine disturbance and pigmented skin patches

This is known as McCune-Albright syndrome

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9
Q

What is neurofibromatosis

A

A congenital hamartomatous dysplasia with all cell types affected

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10
Q

What are some characteristics of neurofibromatosis

A

pigmented skin lesions and multiple fibromata in skin and on peripheral nerves

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11
Q

What is multiple enchondromas

A

A non-hereditary disorder of the growth plate, resulting in areas of unsoiled hyaline cartilage arising around the growth plate area

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12
Q

What area of the body is often affected in multiple enchondromatosis (Ollier’s disease)

A

Hands

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13
Q

What is the treatment for multiple enchondromatosis

A

surgical excision of the troublesome lesions

correcting deformities by osteotomy

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14
Q

What is the commonest of the disorders caused by abnormal maturation of growth plate chondroblasts

A

Achondroplasia

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15
Q

What type of bones does Achondroplasia most commonly affect and what does this result in

A

Long bones

results in stereotypical dwarfism - short stature with normal trunk but short limbs

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16
Q

Describe the features of the face in a patient with Achondroplasia

A

Large forehead and flattened nose

17
Q

What type inheritance disease is haemophilia

A

sex linked recessive - affects males only

18
Q

When might haemophilia be suspected

A

if there is a history of prolonged or severe bleeding form minor injuries with a tendency to develop extreme bruising or swelling

19
Q

What are the commonest joints involved in haemophilia

A

Knee
ankle
elbow

20
Q

What does recurrent bleeding in the same joint result in

A

destruction of the articular cartilage with internal fibrosis and tendency to develop contractors - haemoarthropathy

21
Q

Describe the pain in haemarthroses

A

extremely painful and accompanied by severe muscle spasm

Tenderness over the synovium

22
Q

What is the mainstay of treatment in haemophilia

A

Replacement of the defective factor (VIII or IX)

23
Q

How can the factor replacement be achieved

A
fresh frozen plasma 
Cryoprecipitate 
Freeze-dried human AHG
Animal antihaemophilic globulin
Recombinant tissue factors
24
Q

How can prevention of future bleeding after injury be achieved

A

acute self-administration of factor therapy in those with severe disease

25
Q

What must be done to a limb that has developed the haemorrhage in haemarthrosis

A

Splint to prevent further bleeding

26
Q

Why might a patient have a large haemarthroses aspirated

A

To reduce the risk of permanent damage to he articular cartilage by the blood in the joint

27
Q

What is Paget’s disease

A

one of the commonest bone diseases of white populations

28
Q

What is the aetiology of Paget’s disease

A

Unknown but suggestive of a viral origin

29
Q

What is the main feature of Paget’s disease

A

a disorientated architecture of the bone

30
Q

What type of fractures are common in bones which are bowed

A

pseudo or stress fractures

31
Q

How is Paget’s most commonly diagnosed

A

Incidentally

32
Q

What are the 5 main complications of Paget’s disease

A

Pathological feactues
Osteoarthritis (especially the hip)
Sarcomatous change (highly malignant and rapidly fatal)
Paraplegia (collapse f a vertebra or vascular changes affecting the spinal cord)
Compression of cranial nerves (deafness or visual disturbances)

33
Q

How can we make a clinical diagnosis of Paget’s

A

Clinical and Xray appearances
Raised alkaline phosphatase
Biopsy (rarely unless a sarcoma is suspected)
Bone scan using Tc labelled diphosphonate will detect disease before visible on X-ray

34
Q

How do bisphosphonates work in Paget’s disease

A

they reduce bone resorption by inhibiting osteoclasts which ordinarily resorb bone

35
Q

What injected drug has been used more recently for Paget’s disease

A

pamidronate

36
Q

What is the aim of the treatment in Paget’s disease

A

Pain relief if symptomatic

fracture management