Musculoskeletal: Metabolic Bone Disease

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SGUL LOBs for Musculoskeletal: Metabolic Bone Disease
Andrew Street
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Andrew Street
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1814 Osteomalacia is defective m..... of newly formed bone matrix or osteoid. Rickets is defective m..... at the e..... g...... p..... and is found in association with osteomalacia in children. Osteomalacia is defective mineralization of newly formed bone matrix or osteoid. Rickets is defective mineralization at the epiphyseal growth plate and is found in association with osteomalacia in children. K & C p558.
1810 List causes of vit D deficiency. There are three main reasons for vit D deficiency: 1) The body has an increased need for vitamin D - pregnant women, breast feeding women, babies being breast fed by vit D deficient mothers, & growing children. 2) The body is unable to make enough vitamin D - people with inadequate sun exposure, the elderly (due to thin skin), people with darker skin, certain medical conditions (Crohn's, coeliac, liver & kidney DS), medications (eg carbamazepine, phenytoin, primidone, barbiturates and some anti-HIV medicines). 3) Not enough vitamin D is being taken in the diet - strict vegetarian or vegan diet, or a non-fish-eating diet. patient.info.
1811 Clinical features of osteomalacia. * May be asymptomatic * Muscle weakness * Widespread bone P - ^ on weight-bearing & walking * 'Waddling' gait, difficulty climbing stairs & getting out of a chair. K & C p559.
1811 Clinical features of rickets. * Craniotabes (thin, deformed skull) - seen at birth due to neonatal rickets * Widened epiphyses at the wrists - young children * Harrison's sulcus - groove in the rib cage due to beading at the costochondral junctions ('rickety rosary') * Lower limb deformities - older children. K & C p559.
1812 DDx for bone P. * Osteoporosis * Bone tumour * Osteomyelitis * Leukemia * Rickets * Hypercalcaemia * Hyperparathyroidism * Paget's DS * Multiple myeloma and on & on & on...... healthline.com
1813 Causes of rickets & osteomalcia. K & C p559.
1815 Ix for rickets & osteomalacia. * Serum alkaline phosphatase - ^ in 90% of cases * Low serum Ca2 & phosphate & ^ PTH - each present in 50% of cases * Serum 25-(OH)D3 is low * Serum FGF-23 ^ in many people with tumour-induced osteomalacia * X-ray - see next card. K & C p559.
1815 What characteristic x-ray finding in osteomalacia is shown? Looser's pseudo #'s. Seen here in both femurs. K & C p559.
1816 Rx for rickets & osteomalacia. * Vit D replacement - initial loading dose followed by maintenance doses * Supplementary Ca2. K & C p559.
1816 What advice is given to prevent vit D deficiency in young children? The Department of Health recommends that: Breastfed babies from birth to one year of age should be given a daily supplement containing 8.5 to 10mcg of vitamin D. Babies fed infant formula should not be given a vitamin D supplement until they are receiving less than 500ml (about a pint) of infant formula a day, because infant formula is fortified with vitamin D Children aged 1 to 4 years old should be given a daily supplement containing 10mcg of vitamin D nhs.uk.
1820 Osteoporosis predisposes to skeletal f..... from a quantitative d..... in bone matrix components (o..... & h.....) of bone. Osteoporosis predisposes to skeletal fractures from a quantitative decrease in bone matrix components (osteoid & hydroxyapatite) of bone. MAAG p454.
1817 Explain T & Z scores and give the definitions of osteoporosis & osteopenia. T-score = comparison with young adults of the same sex. Z-score = comparison with the expected BMD for the pt's age & sex. WHO definitions: * Osteoporosis = T-score of <-2.5 * Osteopenia = T-score -1.0 to -2.5 MAAG p455.
1818 What are the typical presentations of osteoporosis? Low impact #'s (eg distal radius (Colles') or femoral neck) and wedge #'s of the vertebrae in the thoracic region causing height loss, kyphosis & P. MAAG p454.
1819 Give a DDx for pathological #'s. * Osteoporosis * Osteomalacia * Paget's DS * Osteitis * Osteogenesis imperfecta * Benign bone tumours & cysts * Secondary & primary malignant bone tumours. Wiki.
1821 List risk factors for osteoporosis. * Elderly women - esp if late menarche, early menopause, or long Hx of oligomenorrhoea (eg athletes, anorexia nervosa) due to decreased oestrogen exposure. * Smoking * Alcohol * Steroid * Sedentary lifestyle * +ve FHX * Lean body type. MAAG p454.
1821 List secondary causes of osteopenia. * Endocrine DS: > Thyrotoxicosis > Cushing's DS > Hypogonadism > Hyperparathyroidism > Secondary amennorrhoea * Rheumatological DS: > Any inflammatory arthropathy esp if Rx with steroids * Gastroenterological DS: > Malabsorption > Cirrhosis * Neoplasia * Drugs: > Steroids > Heparin > Warfarin > Phenytoin * Alcoholism * Rare genetic disorders: > Osteogenesis imperfecta > Hypophosphatasia. MAAG p454.
1822 Outline the Mx of established osteoporosis. * Ca2 & vit D supplements * Bisphosphonates - alendronate, risedronate, zoledronate (once yearly injection). Inhibit osteoclasts. * Strontium ranelate * Denosumab - monoclonal AB to RANKL * Raloxifene - selective oestrogen receptor modulator that activates oestrogen receptors in bone * Recombinant human PTH peptide 1-34 (Teriparatide) & 1-84 - anabolic agents that stimulate bone formation * HRT - now 2nd line option due to CVS & breast CA risks. K & C p555.
1824 Outline preventative measures for osteoporosis. * Maximization of BMD (young women): > Adequate Ca2 (1000mg/daily) & vit D (1000IU/daily) > Quit smoking > Minimize alcohol & caffeine intake > Regular weight bearing exercise * Reducing the rate of bone loss - peri- & postmenopausal women & those on long term steroids should have DEXA scans. Start Rx if suitable. * Prevention of #'s. Those with established osteoporosis should be assessed for falls risks (eg drugs causing hypotension, poor vision, poor mobility). MAAG p455.
What is shown by the arrow? Typical osteoporotic # in the vertebrae (T11 in this eg).
1828 Osteitis deformans or Paget’s disease is a focal disorder of bone re..... The initial event of excessive r..... is followed by a compensatory increase in new bone f....., increased local bone blood flow and fibrous tissue in adjacent bone marrow. Ultimately, formation e...... resorption but the new bone is structurally abnormal. Osteitis deformans or Paget’s disease is a focal disorder of bone remodelling. The initial event of excessive resorption is followed by a compensatory increase in new bone formation, increased local bone blood flow and fibrous tissue in adjacent bone marrow. Ultimately, formation exceeds resorption but the new bone is structurally abnormal. K & C p557.
1829 Describe the main clinical features of Pagets DS. May affect one or many bones. The most commonly affected in order are: pelvis, lumbar spine, femur, thoracic spine, sacrum, skull, & tibia. Sx inc: * Bone P * Joint P when bone involved is close to a joint * Deformities * Neurological complications - nerve compression (deafness may result from compression of CN VIII), spinal stenosis, hydrocephalus due to blockage of aqueducts * High output cardiac failure & myocardial hypertrophy due to ^ bone BD flow * Pathological #'s * Osteogenic sarcoma (<1%). K & C p557.
1830 Ix to confirm Paget's DS. * X-ray features - lytic lesions > mixed phase > sclerotic phase > thickening of trabeculae & loss of distinction between cortex & trabeculae (de-differentiation) * Isotope bone scans * ^ Serum alkaline phosphatase with normal Ca2 & phosphate reflects ^ bone turnover * Urinary hydroxyproline excretion is ^. k & C p557.
1831 Rx of Paget's DS. * Bisphosphonates - mainstay of Rx either IV or PO * Surgery - joint replacement or osteotomy. K & C p557.
What is shown by the arrows? Lateral skull radiograph shows a large geographic, lytic lesion in the left frontal bone (blue arrows). Also seen are islands of bone (white arrows) producing a "cotton-wool" appearance. Typical in Paget's DS seen in early destructive phase and later mixed stages.
What is seen in this x-ray? 'Sabre' tibia as seen in Paget's DS.
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