Metabolic Bone Disease Flashcards
Which factors stimulate osteoblast expression of RANK ligand?
- TNF-alpha
- PTHrP
- IL-1 and IL-11
- Vitamin D
- Glucocorticoids
- PTH
- PGE-2
What is Paget’s bone disease and what does it cause?
- Increased bone resorption followed by increased bone formation
- Leads to bigger, less compact, disorganised bone which is more vascular and more susceptible to deformity and fracture
Describe the aetiology of Paget’s disease
- Genetics: large proportion are familial
- Distribution restricted to those of anglo-saxon origins
- Environmental: chronic viral infection within osteoclasts
What are the symptoms of Paget’s disease?
- Patients > 40
- Bone pain
- Occasionally bone deformity
- Excessive heat over Pagetic bone
- Neurological complications e.g. nerve deafness
How does Paget’s disease present?
- Isolated elevation of serum alkaline phosphatase
- Bone pain and local heat
- Bone deformity or fracture
- Hearing loss
- Rarely: osteosarcoma in affected bone
How can Paget’s disease be treated?
- Only treat asymptomatic if in skull or other areas requiring surgical intervention
- Not to be done on raised alkPhosphatase alone
- IV bisphosphonate therapy - one off IV zoledronic acid
Which bone diseases are caused by severe nutritional vitamin D or calcium deficiency which causes insufficient mineralisation?
- Rickets in children
- Osteomalacia in adults (whose epiphyseal lines are closed)
What are the clinical features of rickets?
- Stunted growth
- Large forehead
- Odd curve to spine or back
- Odd shaped ribs or breast bones
- Large abdomen
- Odd shaped legs
- Wide joints at elbow and wrist
- Wide ankles and wide bones in the leg
What is osteogenesis imperfecta?
A genetic disorder of connective tissue characterised by fragile bones from mild trauma and even acts of daily life
List the four most common types of osteogenesis imperfecta and how they present
- Type I: mild (when child starts to walk/can present in adults)
- Type II: lethal by age 1
- Type III: severe bone dysplasia and poor growth
- Type IV: similar to type I but more severe
What are the signs and symptoms of osteogenesis imperfecta?
- Growth deficiency
- Defective tooth formation
- Hearing loss
- Blue sclera
- Scoliosis
- Barrel chest
- Ligamentous laxity
- Easy bruising
How can osteogenesis imperfecta be managed?
- Surgically: to treat fractures
- Medically: IV bisphosphonates (to prevent fractures)
- Socially: educational and social adaptations
- Genetic counselling
What is the definition of osteoporosis?
A 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
When would a DXA bone scan be diagnostic of osteoporosis (T score)?
A result of < -2.5 SDs below the young adult mean in a post menopausal woman
What is the risk of fracture related to in osteoporosis?
- Age
- Bone mass density
- Falls
- Bone turnover