Metabolic Bone Disease Flashcards
What causes Rickets and Osteomalacia?
What is the difference between the two?
Severe nutritional vitamin D deficiency causes insufficient mineralisation and thus rickets in a growing child and osteomalacia in the adult when the epiphyseal lines are closed
What are the signs of osteomalacia?
Soft spot on baby’s head is slow to close
“Bony necklace” of nodules around ribs
Curved bones
Big, lumpy joints
Bowed legs
What is Paget’s disease?
What goes wrong and what does it lead to?
Localised disorder of bone turnover
Increased bone resorption followed by increased bone formation
leads to disorganised bone: bigger, less compact, more vascular and more susceptible to deformity and fracture
What are the symptoms of Paget’s disease?
When does it present?
Presents in a patient >40 years with bone pain
Occasionally presents with bone deformity, excessive heat over the pagetic bone or by neurological complications (deafness)
Paget’s disease effecting the skull can lead to what?
Deafness
What is the genetic component of the aetiology of Paget’s disease?
How does this play into geographic distribution?
Strong genetic component
15-30% are familial
Restricted geographic distribution: those of Anglo-Saxon origins
Possibility of chronic viral infection within osteoclasts may lead to what?
Paget’s disease
What blood test will be elevated in the majority of Paget’s disease?
Alk Phos
May be an isolated elevation that is picked up by chance (should be looked into)
What may Paget’s present with on very rare occasions?
what very rare complication occurs in Paget’s
Osteosarcoma of affected bone
What is osteogenesis imperfecta?
broad definition
Genetic disorder of connective tissue characterised by fragile bones from mild trauma and even acts of daily life
How does osteogenesis imperfecta vary?
Why is this?
Broad clinical range due to 8 different defects in type 1 collagen
What are the 4 most common defects in type 1 collagen that occur in osteogenesis imperfecta?
Type 1:
- Milder form
- When child starts to walk and can present in adults
Type 2:
-Lethal by age 1
Type 3:
-Progressive deforming with severe bone dysplasia and poor growth
Type 4:
-Similar to type 1 but more severe
What are the signs of osteogenesis imperfecta?
Growth deficiency
Defective tooth formation
(dentigenesis imperfecta)
Hearing loss
Blue sclera
Scoliosis
Barrel chest
Ligamentous laxity
Easy bruising
How do you treat osteogenesis imperfecta?
Pins put in place in childhood
These support bone and grow with the bone as the child grows
What is the definition of osteoporosis?
Metabolic bone disease characterised by low bone mass and micro architectural deterioration of bone tissue, leading to enhanced bone fragility and a consequent increase in fracture risk
What result on a DXA bone scan would define osteoporosis?