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Metabolic Bone disease
Tanya Potter
Consultant Rheumatologist
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Aims and Objectives
• Aims– Understand the definition and spectrum of
metabolic bone diseases
• Objectives– demonstrate understanding of epidemiology,
aetiology, clinical features and management of osteoporosis, osteomalacia, Paget’s disease and renal osteodystrophy
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Case 1
• 72 year old lady • Acute onset severe thoracic pain• Keeping her awake at night• Radiates around ribs• No history of trauma• PMH – COPD• DH - Inhalers
• What other questions would you ask?
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Case 1 - contd
• On examination – – Frail lady– Apyrexial– Thoracic kyphosis– Tender over spinous processes T7/8– No neurological deficit
– differential diagnosis?
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Diff. Diagnosis of Back Pain
• Simple mechanical eg ligamentous strain• Degenerative disease with/without neural, cord
or canal compromise• Metabolic – osteoporosis, Pagets • Inflammatory – Ankylosing spondylitis• Infective – bacterial and TB• Neoplastic• Others, (trauma,congenital)• Visceral
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Case 1
• Investigations
• HB 12.9, WCC 9.0, Plts 245
• Na 139, K 4.4, U 7.3, Cr 96
• AP 297, ALT 32, Bil 13, Ca 2.41
• CRP 8
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Osteoporosis
Reduction in bone mass leading to increase risk of fracture
Ratio of mineralised bone: matrix is normal
Imbalance of bone remodelling
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• Risk factors for osteoporosis?
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• Measurement and definition of OP?
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DEXA
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T scores
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• Typical OP # ?
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OP fractures
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250,000 # / yr in UK
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• Treatment for OP ?
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Osteoporosis
• Lifestyle factors– Falls prevention– Hip protectors
• Ca and Vit D
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• Bisphosphonates
• Strontium
• SERMs
• Teriparatide- PTH
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Preventing steroid induced osteoporosis
• All: lifestyle advise, calcium and vit D
• Age <65 DEXA- if T score -1.0 or less then alendronate
• Age >65 alendronate
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NICE guidance
• http://guidance.nice.org.uk/TA87/?c=91524
• www.sheffield.ac.uk/FRAX/tool
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Case 2
• 33 year old Asian lady• Presents with 3 /12 history of generalised
bony pain• PMH – depression• DH – sertraline
• O/E – generalised bony tenderness• Joints – normal ROM, no inflammation
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Investigations
• Hb 12.9 (11.5-16.5) Calcium 2.18 (2.2-2.6)
• WCC 4.7 (4.9-11.0) Phosphate 0.79 (0.85-1.45)
• Plt 253 (150-400) Albumin 39 (35-50)• ESR 12 Alk Phos 172 (25-96)• Clotting Normal Total protein 72 (60-80)• Urea 4.2 (3.0-6.5) LFTs normal• Creat 85 (35-120)
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• Diagnosis?
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Osteomalacia
• Rickets of adulthood• Deficiency or resistance to Vit D OR Phosphate
handling problem• Defective mineralization of bone• Proximal myopathy, Bony pain, malaise
– Deformities much less common than with rickets
• AP raised, Ca and Vit D low or normal• PO4 low or normal
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Causes of osteomalacia/rickets
• Reduced availability of Vit D
– Diet: oily fish, eggs, breakfast cereals
– Elderly individuals with minimal sun exposure
– Dark skin, skin covering when outside
– Fat malabsorption syndromes
– Kidney failure
– malabsorption
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• malabsorption– Coeliac– Intestinal bypass– Gastrectomy– Chronic pancreatitis– Pbc
• Epilepsy: phenytoin, phenobarbitones• Genetic disease
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• Defective metabolism of Vitamin D– Chronic renal failure, Vit D dependent rickets,– Liver failure, anticonvulsants
• Receptor Defects
• Altered phosphate homeostasis– Malabsorption, RTA, hypophosphatasia (rare,
low levels of alk phos)
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Loosers zones
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Treatment
• Vitamin D –usually oral
• Calcium supplements
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Case 3
• 62 year old lady referred with generalised muscular pain
• PMH – hypertension• DH – bendrofluazide• Examination – largely unremarkable• Routine bloods all normal except Calcium of
2.95• She has come back to clinic for results• What would you do now?
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Symptoms of hypercalcaemia
• Stones,
• Bones,
• Moans,
• Psychic Groans
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An approach to hypercalcaemia
• Stones, Renal colic
• Bones, Joint, bone, muscle pain, Muscle weakness
• Moans, Constipation Abdominal pains
• Psychic Groans Depression, confusion, altered mental state, Fatigue, lethargy
• Dehydration, polyuria
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Causes of Hypercalcaemia
• Malignancy
• Hyperparathyroidism – primary or tertiary
• Increased intake
• Myeloma
• Sarcoid
• Adrenal failure
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Treatment of acute hypercalcaemia
• Hydration, IV if Ca very high
• Bisphosphonates
• Treat cause
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Hyperparathyroidism
• Primary hyperparathyroidism:– Often an incidental finding
– May be part of MEN I, MEN II
• Secondary hyperparathyroidism– Compensates for chronic low Ca eg. Renal failure or malabsorption
– [Ca2+] and [PO42-] normal PTH high
• Tertiary hyperparathyroidism– Hyperplasia in longstanding secondary disease
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Multiple endocrine neoplasia
• Aut dom
• MEN 1 parathyroid tumours, ant pituitary, pancreas
• MEN 2A thyroid tumour, phaeochromocytomas, parathyroid hyperplasia
• MEN 2B thyroid tumours and phaeos
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Renal Osteodystrophy
• Effect on bone of disordered calcium homeostasis
• May be osteomalacia, hyperparathyroidism• Leads to
– Bone pain– Skeletal deformity– Muscular weakness– Ectopic calcification– Growth retardation
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Hypoparathyroidism
Causes
• Destruction of gland- surgical (thyroidectomy- may be transient)
• Autoimmune- polyglandular autoimmune glandular syndrome
• Irradiation or infiltration (cancer, wilsons)
• Abnormal gland development
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Case 4
This 73 year old lady was referred from her GP to ENT with deafness.
They asked her to see the rheumatologist
Why?
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Paget’s Disease
• Disease of bone remodeling
• Accelerated bone resorption and formation
• Disorganised mosaic pattern bone with increased vascularity and fibrosis
• Cause unknown
– paramyxovirus, canine distemper
– Genetics- susceptibility loci
• More common in caucasian
• M:F ratio 3:2 10% in over 70’s
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Paget’s Disease: clinical manifestations
• Bone pain
• Joint pain
• Deformity
• Spontaneous fractures
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Pagets Disease: complications
• Fractures
• Deafness
• Nerve entrapment
• Spinal stenosis
• Cardiac failure
• Osteogenic sarcoma
• Hypercalcaemia (only if immobilized)
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Paget’s Disease: investigations
• Raised serum alk phos
• Urinary hydroxyproline, pyridinoline cross-links
• Radiology
– cortical thickening
– osteolytic, osteosclerotic and mixed lesions
– osteoporosis circumscripta
– bone scan
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Normal
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Paget’s Treatment
• Bisphosphonates– calcitonin
• Indicated if – Complications– Pain– Deformity– AP 2-3X Upper limit– Skull disease
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Questions?