Paget's disease and Osteogenesis Imperfecta

Question 1

describe the pathology seen in Paget’s disease

Answer 1

abnormal osteoclastic activity followed by increased osteoblastic activity, abnormal bone structure with reduced strength and increased fracture risk

Question 2

describe the aetiology of Paget’s disease

Answer 2

uncertain; may be viral/environmental/biochemical trigger in genetically predisposed individuals

Question 3

what bones are predominantly affected in Paget’s disease

Answer 3

affects long bones, pelvis, lumbar spine and skull predominantly

Question 4

what clinical features does Paget’s disease present with

Answer 4

bone pain, deformity, deafness, compression, neuropathies

Question 5

describe the diagnosis of Paget’s disease

Answer 5

X-ray, isotope bone scan to show distribution of disease, raised alkaline phosphatase with normal LFTs

Question 6

what treatment is used for Paget’s disease

Answer 6

bisphosphonates used if bone pain not responding to analgesia

Question 7

describe what osteogenesis imperfecta is

Answer 7

a rare group of genetic disorders mainly affecting bone

Question 8

what is the inheritance pattern of osteogenesis imperfecta

Answer 8

autosomal dominant inheritance

Question 9

how does osteogenesis imperfecta present

Answer 9

with fractures, if severe in childhood if milder in adulthood

Question 10

what is used in the treatment of osteogenesis imperfecta

Answer 10

no cure, only fracture fixation, surgery to correct deformities and bisphosphates

Question 11

what clinical feature is seen in the eyes in osteogenesis imperfecta

Answer 11

blue whites of eyes