Metabolic Bone Disease Flashcards
What is Paget’s disease of bone?
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
Paget’s disease symptoms
Presents in a patient >40 years with bone pain
Occasionally with bone deformity
Excessive heat over the Pagetic bone
Neurological complications such as nerve deafness
Isolated elevation of serum alkaline phosphatase
Paget’s disease treatment
None if asymptomatic
IV bisphosphonate therapy
What are rickets and osteomalacia?
Severe nutritional vitamin D or Calcium deficiency causing insufficient mineralisation
What is the difference between rickets and osteomalacia?
Rickets in the growing child; osteomalacia in adults when epiphyseal lines are closed
What is osteogenesis imperfecta?
Genetic disorder of connective tissue characterised by fragile bones from mild trauma and even acts of daily life
What types of collagen are most commonly affected in osteogenesis imperfecta?
Type 1-4
Type I collagen defect OI
Milder form - when child starts to walk and can present in adults
Type II collagen defect OI
Lethal by age 1
Type III collagen defect OI
Progressive deforming with severe bone dysplasia and poor growth
Type IV collagen defect OI
Similar to type I but more severe
OI signs/symptoms
Growth deficiency Defective tooth formation Hearing loss Blue sclera Scoliosis Barrel chest Ligamentous laxity Easy bruising
Management of OI
Surgical -fractures Medical -prevent fracture -IV bisphosphonates Social -adaptions educationally and socially Genetic -genetic counselling for parents and next generation
What is 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
THIN BONES WITH INCREASED RISK OF LOW TRAUMA FRACTURE
Osteoporosis investigations
DEXA scan
