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
