Metabolic Bone Disease

Question 1

Paget’s disease of bone

Answer 1

• Localised disorder of bone turnover (long bones and skull)
• Increased bone resorption followed by increased bone formation
• Leads to disorganised bone: bigger, less compact, more vascular and more susceptible to deformity and fracture

Question 2

Paget’s disease of bone symptoms

Answer 2

• presents in a patient>40 years with bone pain
• occasionally presents with bone deformity,
• excessive heat over the Pagetic bone
• neurological complications such as nerve deafness

Question 3

Paget’s disease of bone presentation

Answer 3

• Isolated elevation of serum alkaline phosphatase- the commonest presentation in the 21st centuary
• Bone pain and local heat
• Bone deformity or fracture
• Hearing loss
• Rare development of osteosarcoma in affected bone

Question 4

Paget’s disease of bone investigations

Answer 4

• plain X-Ray
• bone scan
• total serum alkaline phosphatase
• bone specific alkaline phosphatase
• serum calcium
• serum 25-hydroxyviatmin D

Question 5

Paget’s disease of bone treatment

Answer 5

• No evidence to treat asymptomatic Paget’s unless in skull or in area requiring surgical intervention.
• Do not treat based on a raised alkaline phosphatase alone
• Intravenous Bisphosphonate therapy-One off IV zoledronic acid
• Calcitonin

Question 6

Rickets and osteomalacia

Answer 6

Severe nutritional vitamin D or Calcium deficiency causes insufficient mineralisation and thus rickets in a growing child and Osteomalacia in the adult when the epiphyseal lines are closed

Question 7

Rickets presentation

Answer 7

• manifests at the distal forearm, knee, and costochondral joints, as these are sights of rapid bone growth, where large quantities of calcium and phosphorus are required for mineralisation
• characteristic features:
  - widening of the bones at the wrists and knees
  - bowing of the legs
  - spine deformities
  - fractures
  - bone pain
  - dental abnormalities

Question 8

Rickets investigations

Answer 8

• X-ray of long bone
• 25-hydroxyvitamin D levels
• serum calcium
• serum inorganic phosphorus
• serum parathyroid hormone level
• serum urea and creatinine
• serum alkaline phosphatase

Question 9

Treatment for vitamin D deficiency

Answer 9

-calcium and vitamin D supplementation

Question 10

Osteomalacia

Answer 10

-a metabolic bone disease characterised by incomplete mineralisation of the underlying mature organic bone matrix following growth plate closure in adults

Question 11

Osteomalacia diagnostic factors

Answer 11

• vitamin D and calcium deficient diet
• lack of sunlight exposure
• malabsorption syndromes
• fractures
• diffuse bone pain and tenderness
• proximal muscle weakness

Question 12

Osteomalacia investigations

Answer 12

• X-ray of long bone
• 25-hydroxyvitamin D levels
• serum calcium
• serum inorganic phosphorus
• serum parathyroid hormone level
• serum urea and creatinine
• serum alkaline phosphatase
• DXA

Question 13

Osteogenesis imperfecta

Answer 13

Genetic disorder of connective tissue characterised by fragile bones from mild trauma and even acts of daily life

Question 14

Osteogenesis imperfecta types

Answer 14

• Type I: milder form-when child starts to walk and can present in adults
• Type II: lethal by age 1
• Type III: progressive deforming with severe bone dysplasia and poor growth
• Type IV : similar to type 1 but more severe

Question 15

Signs and symptoms of osteogenesis imperfecta

Answer 15

• Growth deficiency
• Defective tooth formation (dentigenesis imperfecta)
• Hearing loss
• Blue sclera
• Scoliosis
• Barrel chest
• Ligamentous laxity
• Easy bruising

Question 16

Management of osteogenesis imperfecta

Answer 16

Surgical
-to treat fractures
 Medical
-to prevent fracture
       -intravenous Bisphosphonates
Social
-adaptions educationally and socially
Genetic
-genetic counselling for parents and next generation