Bone composition diseases and bone cancers Flashcards
(39 cards)
What is the pathophysiology of Paget’s disease?
Abnormally rapid bone destruction and reformation
New bone is structurally abnormal, dense and fragile
Which bones are most commonly affected by Paget’s diseases?
Spine, skull, pelvis, lower legs
How is ALP affected in Paget’s disease?
Raised
Give 7 complications of Paget’s disease
Fractures Hearing loss Vision loss Hydrocephalus Spinal stenosis Congestive heart failure Sarcomas
Which drugs are first line in the management of Paget’s disease?
Bisphosphonates with oral calcium and vitamin D supplements
What can be used if bisphosphonates are not tolerated in Paget’s disease?
Subcutaneous calcitonin injection
What are the most common causes of vitamin D deficiency?
Inadequate sunlight exposure
Nutritional deficiency
Give 5 drugs that can cause vitamin D deficiency
Anticonvulsants HAART Colestyramine Rifampicin Cadmium
How do children present with vitamin D deficiency?
Bone deformities
In severe causes hypocalcaemic seizures or tetany
How do adults present with vitamin D deficiency?
Proximal muscle weakness and pain
What is the most reliable way of determining vitamin D status?
Serum 25-OHD
What does rickets look like on X ray?
Cupping, splaying and fraying of the metaphysis
What is Albers-Schonberg disease?
Autosomal dominant osteopetrosis
When does autosomal dominant osteopetrosis typically present?
Late childhood or adolescence
What is associated with autosomal dominant osteopetrosis?
Scoliosis
Hip arthritis
Osteomyelitis
When does autosomal recessive osteopetrosis typically present?
Early infancy
What does abnormally dense skull bones cause in autosomal recessive osteopetrosis?
Cranial nerve impingement, leading to vision loss, hearing loss and paralysis of facial muscles
What does impairment of bone marrow cause in autosomal recessive osteopetrosis?
Coagulopathy
Anaemia
Recurrent infection
What is the classic triad seen in X linked osteopetrosis?
Lymphoedema
Anhidrotic ectodermal dysplasia
Immunodeficiency
Which genes are most often affected in osteogenesis imperfecta?
COL1A1 and COL1A2 (type 1 collagen)
What is the inheritance of osteogenesis imperfecta (caused by COL1A1 or COL1A2 mutation)?
Autosomal dominant
Which genetic syndromes increase the risk of osteosarcoma?
Familial retinoblastoma
Li-Fraumeni syndrome
Which genetic syndrome increases the risk of chondromas?
Tuberous sclerosis
Which 6 types of cancer most commonly metastasise to the bone?
Breast Lung Prostate Renal Thyroid Bowel
