Generalised orthopaedic conditions Flashcards
What is brittle bone disease also known as
osteogenesis imperfecta
What is osteogenesis imperfecta
A connective tissue disease in which the bones are of decreased density rendering them delicate and prone to fracture
What causes osteogenesis imperfecta
an abnormality of Type 1 collagen which in the eye allows the blue colour of the retina to show though
What is the treatment for osteogenesis imperfecta
none is known
What type of osteogenesis imperfecta is most common
Type 1 - autosomal dominant inheritance
Blue sclera
What is type 2 osteogenesis imperfecta
autosomal recessive inheritance
dark blue sclerae
What is fibrous dysplasia
a condition in which single or multiple cystic lesions occur in the bones
If the lesions in fibrous dysplasia are polyostotic, what might they be associated with
endocrine disturbance and pigmented skin patches
This is known as McCune-Albright syndrome
What is neurofibromatosis
A congenital hamartomatous dysplasia with all cell types affected
What are some characteristics of neurofibromatosis
pigmented skin lesions and multiple fibromata in skin and on peripheral nerves
What is multiple enchondromas
A non-hereditary disorder of the growth plate, resulting in areas of unsoiled hyaline cartilage arising around the growth plate area
What area of the body is often affected in multiple enchondromatosis (Ollier’s disease)
Hands
What is the treatment for multiple enchondromatosis
surgical excision of the troublesome lesions
correcting deformities by osteotomy
What is the commonest of the disorders caused by abnormal maturation of growth plate chondroblasts
Achondroplasia
What type of bones does Achondroplasia most commonly affect and what does this result in
Long bones
results in stereotypical dwarfism - short stature with normal trunk but short limbs
Describe the features of the face in a patient with Achondroplasia
Large forehead and flattened nose
What type inheritance disease is haemophilia
sex linked recessive - affects males only
When might haemophilia be suspected
if there is a history of prolonged or severe bleeding form minor injuries with a tendency to develop extreme bruising or swelling
What are the commonest joints involved in haemophilia
Knee
ankle
elbow
What does recurrent bleeding in the same joint result in
destruction of the articular cartilage with internal fibrosis and tendency to develop contractors - haemoarthropathy
Describe the pain in haemarthroses
extremely painful and accompanied by severe muscle spasm
Tenderness over the synovium
What is the mainstay of treatment in haemophilia
Replacement of the defective factor (VIII or IX)
How can the factor replacement be achieved
fresh frozen plasma Cryoprecipitate Freeze-dried human AHG Animal antihaemophilic globulin Recombinant tissue factors
How can prevention of future bleeding after injury be achieved
acute self-administration of factor therapy in those with severe disease
What must be done to a limb that has developed the haemorrhage in haemarthrosis
Splint to prevent further bleeding
Why might a patient have a large haemarthroses aspirated
To reduce the risk of permanent damage to he articular cartilage by the blood in the joint
What is Paget’s disease
one of the commonest bone diseases of white populations
What is the aetiology of Paget’s disease
Unknown but suggestive of a viral origin
What is the main feature of Paget’s disease
a disorientated architecture of the bone
What type of fractures are common in bones which are bowed
pseudo or stress fractures
How is Paget’s most commonly diagnosed
Incidentally
What are the 5 main complications of Paget’s disease
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)
How can we make a clinical diagnosis of Paget’s
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
How do bisphosphonates work in Paget’s disease
they reduce bone resorption by inhibiting osteoclasts which ordinarily resorb bone
What injected drug has been used more recently for Paget’s disease
pamidronate
What is the aim of the treatment in Paget’s disease
Pain relief if symptomatic
fracture management
