Osteomalacia + Osteogenesis Imperfecta Flashcards
1
Q
What is osteomalacia?
A
Softening of the bones secondary to low vitamin D levels > decreased bone mineral content
2
Q
Causes of osteomalacia
A
- vitamin D deficiency malabsorption, lack of sunlight, diet
- CKD
- drug induced e.g. anticonvulsants
- inherited
- cirrhosis
- coeliac disease
3
Q
Features of osteomalacia
A
- bone pain
- bone/muscle tenderness
- fractures - esp femoral neck
- waddling gait
4
Q
Bone profile blood results in osteomalacia
A
- low vitamin D deficiency
- low calcium
- low phosphate
- raise ALP
5
Q
Treatment of osteomalacia
A
- vitamin D supplements
- loading dose needed initally
- calcium supplements
6
Q
What is osteogenesis imperfecta?
A
- brittle bone disease
- collagen metabolism disorder > bone fragility + fractures
- autosomal dominant
7
Q
Most common type of osteogenesis imperfecta
A
Type 1
Mildest + most common
8
Q
What is the most severe/lethal type of osteogenesis imperfecta
A
Type II
9
Q
Features of osteogenesis imperfecta
A
- presents in childhood
- fractures after minor trauma
- blue sclera
- deafness secondary to otosclerosis
- dental imperfections
10
Q
Bone profile bloods in osteogenesis imperfecta
A
Normal adjusted calcium, phosphate, PTH + ALP
11
Q
Management of osteogenesis imperfecta
A
- bisphosphonates
- Physiotherapy
- NSAIDs or paracetamol
- regular monitoring of complications
12
Q
What is osteopetrosis?
A
- Marble bone disease
- excessively dense but brittle bones
- due to defective osteoclast function
