Osteomalacia + Osteogenesis Imperfecta

Question 1

What is osteomalacia?

Answer 1

Softening of the bones secondary to low vitamin D levels > decreased bone mineral content

Question 2

Causes of osteomalacia

Answer 2

• vitamin D deficiency malabsorption, lack of sunlight, diet
• CKD
• drug induced e.g. anticonvulsants
• inherited
• cirrhosis
• coeliac disease

Question 3

Features of osteomalacia

Answer 3

• bone pain
• bone/muscle tenderness
• fractures - esp femoral neck
• waddling gait

Question 4

Bone profile blood results in osteomalacia

Answer 4

• low vitamin D deficiency
• low calcium
• low phosphate
• raise ALP

Question 5

Treatment of osteomalacia

Answer 5

• vitamin D supplements
• loading dose needed initally
• calcium supplements

Question 6

What is osteogenesis imperfecta?

Answer 6

• brittle bone disease
• collagen metabolism disorder > bone fragility + fractures
• autosomal dominant

Question 7

Most common type of osteogenesis imperfecta

Answer 7

Type 1
Mildest + most common

Question 8

What is the most severe/lethal type of osteogenesis imperfecta

Answer 8

Type II

Question 9

Features of osteogenesis imperfecta

Answer 9

• presents in childhood
• fractures after minor trauma
• blue sclera
• deafness secondary to otosclerosis
• dental imperfections

Question 10

Bone profile bloods in osteogenesis imperfecta

Answer 10

Normal adjusted calcium, phosphate, PTH + ALP

Question 11

Management of osteogenesis imperfecta

Answer 11

• bisphosphonates
• Physiotherapy
• NSAIDs or paracetamol
• regular monitoring of complications

Question 12

What is osteopetrosis?

Answer 12

• Marble bone disease
• excessively dense but brittle bones
• due to defective osteoclast function