Metabolic Bone Diseases Overview
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Questions and Answers

What is one of the classic phrases associated with hyperparathyroidism symptoms?

  • Skin, hair, and nails
  • Joints, muscles, and nerves
  • Lungs, hearts, and minds
  • Bones, stones, abdominal groans (correct)
  • Which of the following is NOT a symptom of hyperparathyroidism?

  • Polyuria
  • Arthritis
  • Kidney stones
  • High blood pressure (correct)
  • Which gastrointestinal symptom is associated with hyperparathyroidism?

  • Nausea
  • Chronic diarrhea
  • Bloating
  • Constipation (correct)
  • What psychological symptom is commonly mentioned in relation to hyperparathyroidism?

    <p>Depression</p> Signup and view all the answers

    Which of the following conditions is characterized by increased levels of parathyroid hormone?

    <p>Hyperparathyroidism</p> Signup and view all the answers

    What is the primary mechanism involved in osteoporosis?

    <p>Increased resorption compared to formation</p> Signup and view all the answers

    Which of the following is a clinical feature of Paget's disease of bone?

    <p>Enlarged skull</p> Signup and view all the answers

    Paget's disease is primarily characterized by what type of bone activity?

    <p>Increased osteoclastic resorption</p> Signup and view all the answers

    What is a metabolic consequence of hyperparathyroidism?

    <p>Increased intestinal uptake of calcium</p> Signup and view all the answers

    Which statement best describes osteopetrosis?

    <p>Bone is formed but not remodeled properly</p> Signup and view all the answers

    Which of the following conditions is characterized by localized abnormal bone remodelling?

    <p>Paget's disease</p> Signup and view all the answers

    In osteoporosis, what typically happens to bone strength?

    <p>It decreases</p> Signup and view all the answers

    Which bone disease is associated with a risk of deafness due to nerve compression?

    <p>Paget's disease</p> Signup and view all the answers

    What treatment strategy is commonly employed for managing Paget's disease?

    <p>Osteoclast inhibition</p> Signup and view all the answers

    What anatomical change is commonly seen in osteopetrosis?

    <p>Obliterated medullary canal</p> Signup and view all the answers

    Which is a key laboratory finding in Paget's disease?

    <p>Elevated alkaline phosphatase (ALP)</p> Signup and view all the answers

    What is the most common tumor associated with Paget's sarcoma?

    <p>Osteosarcoma</p> Signup and view all the answers

    What common clinical feature is associated with primary hyperparathyroidism?

    <p>Kidney stones</p> Signup and view all the answers

    What is the primary treatment for primary hyperparathyroidism?

    <p>Parathyroidectomy</p> Signup and view all the answers

    Which vitamin is primarily associated with calcium absorption?

    <p>Vitamin D</p> Signup and view all the answers

    What is a major characteristic of osteoporosis?

    <p>Deterioration of microarchitecture</p> Signup and view all the answers

    What is the main difference between rickets and osteomalacia?

    <p>Rickets occurs before physeal closure; osteomalacia occurs after</p> Signup and view all the answers

    Which of the following is a common management approach for wrist fractures?

    <p>Immobilization in a cast</p> Signup and view all the answers

    Which of the following treatments is recommended for osteomalacia?

    <p>High doses of vitamin D</p> Signup and view all the answers

    What defines an insufficiency fracture?

    <p>Fracture from normal load to abnormal bone</p> Signup and view all the answers

    What is the typical consequence of a hip fracture in older adults?

    <p>High morbidity and mortality rates</p> Signup and view all the answers

    What is the significance of RANK-L in bone metabolism?

    <p>Stimulates bone resorption</p> Signup and view all the answers

    Which condition is characterized by the presence of 'Looser zones'?

    <p>Osteomalacia</p> Signup and view all the answers

    In the context of aging bones, what is the primary fracture mechanism from falls?

    <p>Low-energy trauma</p> Signup and view all the answers

    What contributes to the risk of atypical femoral fractures?

    <p>Use of bisphosphonates</p> Signup and view all the answers

    Which manifestation is common between rickets and osteomalacia?

    <p>Defects in mineralization</p> Signup and view all the answers

    Study Notes

    Introduction

    • Lecturer: Ms Kezia Brown
    • Role: Senior clinical lecturer, Consultant orthopaedic surgeon
    • Topic: The ageing skeleton, specifically metabolic bone diseases.

    Metabolic Bone Diseases

    • Disorders of Bone Remodelling
      • Osteoporosis: resorption > formation
      • Paget's disease: increased resorption and formation
      • Osteopetrosis: decreased resorption
    • Disorders of Mineralisation
      • Hyperparathyroidism
      • Vitamin D-related disorders (osteomalacia, rickets)

    Osteoporosis

    • Disorder of bone quantity, not quality
    • Skeletal disorder with:
      • Deterioration of microarchitecture
      • Compromised bone strength
      • Increased risk of fractures

    Paget's Disease of Bone

    • Abnormal localised bone remodeling.
    • Primarily increased osteoclast (OC) resorption.
    • Increased but disorganized bone formation.
    • Second most common metabolic bone disease (MBD).
    • Clinical features:
      • Enlarged skull
      • Bowing of long bones
      • Large joint osteoarthritis (OA)
      • Fractures
      • Nerve compression
      • Deafness
    • Polyostotic disease
    • Paget's sarcoma: rare malignant change, less than 1% of Paget's cases.
      • Most commonly osteosarcoma
      • Sarcoma = malignancy from mesenchymal cells
      • Metastatic disease has poor prognosis.

    Paget's Disease of Bone (cont'd)

    • Pathology:
      • Abnormal osteoclasts/precursors
      • Greater in number, unusually large and hypersensitive to stimulation
      • 3 phases which can coexist in the same bone
        • Lytic: intense osteoclastic resorption
        • Sclerotic: predominant osteoblastic formation
        • Mixed: resorption and compensatory formation

    Paget's Disease of Bone (cont'd)

    • Investigation
      • Imaging (radiographs, bone scan)
      • Lab results (elevated ALP, marker of bone turnover)
      • Histology
    • Treatment
      • OC inhibition
      • Arthroplasty

    Osteopetrosis

    • Defective osteoclastic resorption
    • Cannot acidify Howship's lacuna
    • Bone formed but not remodelled
    • Dense
    • Obliterated medullary canal
    • Predisposition to fracture (low energy)
    • Transverse fractures
    • Increased risk of non/mal-union

    Hyperparathyroidism

    • Increase in circulating levels of PTH (parathyroid hormone).
    • Primary: intrinsic abnormality of the parathyroid gland(s), pathological increase in PTH production
      • Parathyroid adenoma (85%)
    • Secondary: increased PTH secretion due to hypertrophic parathyroid glands
      • Secondary to chronic hypocalcemia/hyperphosphatemia
      • Vitamin D deficiency
      • Chronic renal disease

    Main effects of PTH

    • Increases bone resorption
    • OBs release more RANKL and less OPG
    • OCs differentiate and activate
    • Increased renal hydroxylation of Vitamin D (calcitriol)
    • Increased RANKL release
    • Increased intestinal uptake
    • Increased renal uptake

    Hyperparathyroidism (Symptoms and Signs)

    • Bones, stones, abdominal groans, thrones and psychic moans
      • Arthritis, osteoporosis
      • Kidney stones
    • Nausea, vomiting, constipation
    • Fatigue, depression, confusion
    • Muscle weakness, achy joints
    • Increased thirst/urination

    Hyperparathyroidism (Treatment)

    • Primary: Parathyroidectomy (97% cure rate)
    • Secondary: Treat the underlying cause (Vitamin D deficiency, chronic renal disease)

    Vitamin D

    • Source: sunlight or diet
    • 2 hydroxylations (liver, kidneys) forming calcitriol (active form)
    • Receptors throughout the body for calcium absorption
    • Maintains serum phosphate
    • Decreases PTH synthesis
    • Increases FGF23 (feedback loop)

    Rickets

    • Defects in mineralisation (calcium and phosphate) prior to physeal closure.
    • Reduced mineralisation at growth plates.
    • Congenital (familial hypophosphatemic)
      • Inability of kidneys to absorb phosphate
    • Acquired (Vitamin D deficient)
      • Lack of dietary Vitamin D or sunlight exposure resulting in decreased calcium absorption
    • Orthopaedic manifestations: brittle bones, bowing of long bones, flattening of skull, enlargement of costal cartilage (cat back), dental abnormalities, irritability
    • Treatment/management: Vitamin D, Calcium, Phosphate, Calcitriol, sometimes surgery

    Osteomalacia

    • Defects in mineralisation and reduced mineralisation at growth plates AFTER physeal closure.
    • Qualitative defect of bone, unlike quantitative defect in osteoporosis.
    • Causes:
      • Diet, malabsorption (coeliac), renal osteodystrophy, alcoholism, tumors
      • Drugs (Vitamin D deficiency, phosphate homeostasis disruption, altered bone mineralisation)
    • Symptoms/signs include: bone and muscle pain, atypical fractures, Looser zones, femur/femoral neck fractures, proximal muscle weakness, fatigue, hip arthritis (protrusio)
    • Treatment: large doses of vitamin D

    Osteoporosis and Fractures (Mechanisms and Epidemiology)

    • High prevalence among older women and males.
    • Causes related to low energy trauma, bone density, post-menopause, secondary causes or medications.
    • Bimodal distribution with peak incidence in younger males (high energy trauma)

    Other Fractures/Management

    • Proximal Humerus: Caused by simple falls, 3rd most common appendicular fracture, 2:1 female-to-male ratio, more complex with age. Treatment is usually a sling/traction and early rehab. Surgery for more complex cases. Patient outcomes are variable.
    • Wrist Fractures: 3:1 female-to-male ratio, caused by falls. Most common MSK injury. Management includes adequate rehab but complex regional pain syndrome is quite common. Risk factor for future fracture. DEXA scan for patients > 55. (Smith's and Colles' are types)
    • Pelvic fractures: Commonly caused by fall backwards, landing on buttocks. Usually involve both superior/inferior pubic rami. Treatment is often conservative.
    • Hip fractures: Extremely common/increasing incidence. High morbidity/mortality. 1/3 return to function; 1/3 lose independence; 1/3 die within a year. Should be treated with surgery with MDT input.
    • Atypical Femoral Fractures: Common in bisphosphonate users, and include subtrochanteric, lateral cortex, and transverse fractures of the femur. Cortical 'beaking' and inhibited osteoclast remodeling are key points. Aim to prevent complete fracture.
    • Spine: Vertebral wedge compression fractures are common from falls or insufficient trauma.
      • Often affects multiple levels/Progressive deformity
      • Height loss
      • Reduced pulmonary volume
      • Distension, constipation, nausea
      • Patient may not be able to see feet or look forward.

    Terminology (fractures)

    • insufficient fractures: cumulative result of repeated normal loading on abnormal bone
    • fragility fracture: result of forces are too weak to fracture normal bone almost always osteoporotic.

    Bone Mass and Peak Bone Mass

    • Bone mass decreases with age for both men and women. Men achieve peak bone mass much sooner than women.

    Oestrogen and Bone

    • Oestrogen has a protective effect on bone. It promotes bone formation and inhibits bone breakdown in most conditions

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    Description

    Explore the complexities of metabolic bone diseases, including osteoporosis, Paget's disease, and mineralisation disorders. This quiz will cover the pathophysiology, clinical features, and implications for bone health in aging individuals. Test your knowledge about the disorders of bone remodeling and mineralization.

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