Metabolic Bone Disease Flashcards
What is Paget’s Disease of bone?
Increased bone resorption followed by increased bone formation localised to areas such as the skull and long bones
Leads to disorganised bone: bigger, less compact, more vascular and more susceptible to deformity and fracture
What are the risk factors for Paget’s disease?
Family history-strong genetic factor Age over 50 Environmental factors such as arsenic levels Chronic Viral infections Geographical correlation
What are the symptoms of Paget’s disease?
Asymptomatic Long bone or back pain (deep seated pulsing pain) Prognathism (increased jaw) Frontal bossing Heat over Paget's bone Neuro problems such as hearing loss or loss in visual acuity Facial Pain Problems with dentition Osteosarcoma risk
What investigations should be carried out in Paget’s disease?
Plain x-ray Bone scan Total serum alkaline phosphatase Bone-specific alkaline phosphatase Serum calcium Serum procollagen 1 N-terminal peptide (P1NP) Serum C-terminal propeptide of type 1 collagen (CTX) LFTs Serum 25-hydroxyvitamin D CT Bone Biopsy
What is the management for Paget’s disease?
Do not need treatment if asymptomatic unless need to do surgery over that area (due to highly vascular bone), if affects skull or the bone is deformed.
Treat with IV bisphosphonate- zoledronic acid
Or treat with calcitonin
What are rickets and osteomalacia?
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
What are the signs and symptoms of rickets?
Bone pain Growth retardation Delayed achievement of motor milestones Bony deformities Muscle weakness Carpopedal spasm Numbness or paraesthesia Tetany Hypocalcaemic seizures Large forehead Wide joints at wrists and ankles
What are the signs and symptoms of osteomalacia?
Fractures Malabsorption syndromes Diffuse bone pain and tenderness Proximal muscle weakness Family history of osteomalacia Waddling gait
What investigations should be done for rickets and osteomalacia?
Serum calcium level Serum 25-hydroxyvitamin D level Serum phosphate level Serum urea and creatinine Intact PTH Serum alkaline phosphatase 24-hour urinary calcium Calcitriol levels Bone x-rays 24-hour urinary phosphate DXA Iliac crest biopsy with double tetracycline labelling
What is osteogenesis imperfecta?
Genetic disorder of connective tissue characterised by fragile bones from mild trauma and even acts of daily life
Defects in type 1 collagen
28 types
What are the first four most common types of osteogenesis imperfecta?
Type 1: milder form-when child starts to walk and can present in adults
Type 11: lethal by age 1
Type 111: progressive deforming with severe bone dysplasia and poor growth
Type 1V : similar to type 1 but more severe
What are the signs and symptoms of osteogenesis imperfecta?
Growth deficiency Defective tooth formation (dentigenesis imperfecta) Hearing loss Blue sclera Scoliosis Barrel chest Ligamentous laxity Easy bruising
What scoring system is used to assess hypermobility?
Beighton score
If score five or over out of nine then classed as hypermobile
What is the definition of osteoporosis?
Osteoporosis is a complex skeletal disease characterised by low bone density and micro-architectural defects in bone tissue, resulting in increased bone fragility and susceptibility to fracture.
Why are women more likely to get osteoporosis than men?
During menopause there is an increase in bone loss so older women are extremely likely to be osteoporotic
