Yr4 MSK - Focus Qs & Short Cases Flashcards
- What is the most likely diagnosis?
- An aspiration of the ankle joint is performed and yields 3mls of opaque fluid. Into what specimen containers should the aspirate be placed? What details would you convey to the technical staff in the laboratory and which tests would you request?
- What factors may have contributed to this patient’s falls? 7 Risk factors for falls?
- What 7 risk factors for osteoporosis does this patient have?
- What 4 further investigations are appropriate following her surgery?
- How would you reduce her risk of future fractures?
Risk factors for falls:
1. Postural hypotension (medication-related)
2. Visual impairment
3. Weakness (deconditioning or Vitamin D deficiency)
4. Sedatives (sleeping tablets)
5. Balance/ gait disturbance
6. Arthritis
7. Poor footwear
Risk factors for osteoporosis
1. Postmenopausal
2. Elderly
3. Prior corticosteroid use
4. Prior smoking history
5. Vitamin D deficiency (common in nursing home residents)
6. General malnutrition including poor calcium intake
7. Physical inactivity
- What other information should be sought in the history?
- What is the differential diagnosis in order of descending likelihood?Justify each with 1-3 dot point statements.
Additional information sought in history
- prominent morning stiffness in addition to pain
- improvement in symptoms with activity or heat
- similar symptoms in the pelvic girdle
- associated symptoms of temporal arteritis: visual symptoms, jaw claudication, scalp tenderness
- duration of treatment with atorvastatin
- What are the 4 most appropriate initial investigations and what results would be most likely?
- What would be the most appropriate initial therapy for each of the diagnoses in Q2? (PMR, statin myopathy, Cervicogenic pain)
- What other information should be sought in the history?
- What is the differential diagnosis in order of descending likelihood (most likely at the top)? Justify each with 1-3 dot point statements
- What immediate management and investigations are indicated? List 3 tests that are priority investigations and explain why.
Additional Information Sought from History
- family history of gout
- past history of joint inflammation especially in the great toe MTP joints
- alcohol/beer consumption
- personal or family history of renal disease
Immediate management and Investigations
1. Examination of synovial fluid – differential WCC, examination for crystals, MC&S
2. Serum uric acid
3. Serum creatinine
4. FBP, differential WCC (acceptable alternative)
5. Rheumatoid factor and CCP antibodies (acceptable alternative)
What is the differential diagnosis? (5) List 3 possible causes for this presentation and in dot point form explain why each is likely or unlikely.
Differentials
2. Osteomyelitis
3. Pre-patellar bursitis
4. A stress fracture of the tibia
5. Haemorrhage into a bone tumour
6. Osgood-Schlatter disease
What investigations are indicated and how will they assist in diagnosis?
- Does Jeremy have any alerting features of serious conditions associated with acute neck pain? What are these features?
- How useful is physical examination at identifying a specific structural cause for the pain?
- When are Xrays indicated with neck pain after acute trauma?
- What about CT or MRI?
- Which treatment modalities have evidence of benefit in acute neck pain?
- What is the prognosis for recovery from acute whiplash-associated neck pain?
What is the differential diagnosis? List 3 possible causes for her presentation and in dot point form explain why each is likely or unlikely.
- Adhesive capsulitis or Frozen shoulder
- Osteoarthritis in the Gleno-Humeral Joint
- Rotator cuff tendinopathy with a secondary subacromial bursitis
What is the natural history of the most likely possibility?
- List 3 differentials and explain why each are likely/unlikely.
- What investigations are indicated and how will they assist in diagnosis?
- Electrophysiology with a focus on nerve conduction studies – may help to confirm Median nerve entrapment at the level of the wrist or carpal tunnel and can help to exclude a peripheral neuropathy such as may occur with diabetes or a cervical radiculopathy
- Ultrasound (US) examination –useful to assess the calibre of the Median nerve prior to entry to the carpal tunnel. Comparison with the contra-lateral side can help to confirm “pre-stenotic” nerve swelling. US may also allow detection of space-occupying lesions, such as ganglia and swollen tendon sheaths (tenosynovitis).
- Which 2 conditions could explain his presentation? Justify each with 1 -3 dot point statements.
- What investigations are indicated? List 2 investigative procedures that are likely to be relevant and how they may be informative?
Investigations
- Plain X-rays and either a CT scan or MRI scan are likely to be informative. These should help establish the extent and severity of lumbar degenerative disc disease, confirm and localize the level of the stenosis and indicate whether a sizable prolapsed disc that may be amenable to surgical decompression is present.
- Doppler studies and possibly a CT angiogram or percutaneous angiogram. These should help to confirm or exclude significant occlusive arterial disease and if present determine the extent and severity of the occlusive disease and his suitability for angioplasties or other interventions.
What is the difference between spinal shock and neurogenic shock?
What is Spinal Shock?
What are the 4 phases of Spinal Shock?
Spinal shock was first explored by Whytt in 1750 as a loss of sensation accompanied by motor paralysis with initial loss but gradual recovery of reflexes, following a spinal cord injury (SCI) – most often a complete transection. Reflexes in the spinal cord below the level of injury are depressed (hyporeflexia) or absent (areflexia), while those above the level of the injury remain unaffected. The ‘shock’ in spinal shock does not refer to circulatory collapse, and should not be confused with neurogenic shock, which is life-threatening. The term “spinal shock” was introduced more than 150 years ago in an attempt to distinguish arterial hypotension due to a hemorrhagic source from arterial hypotension due to loss of sympathetic tone resulting from spinal cord injury. Whytt, however, may have discussed the same phenomenon a century earlier, although no descriptive term was assigned.
Outline the 4 Phases of Spinal Shock.
Explain the Autonomic effects that occur in Spinal Shock.
What is Neurogenic Shock?
- Signs & Symptoms?
Neurogenic Shock
- Causes?
- Treatment?
- What are your priorities ininitial management now he is in the department?
- What important neurological signs should you look out for on secondary survey? (Hint: signs of neurogenic shock)
- Following stabilisation of his fracture, how should his neck be imaged to assess for cervical spine injury? Does he need plain Xrays?
- In a patient with a lower velocity injury, is it ever appropriate to remove spinal precautions without imaging? What criteria need to be satisfied for this to occur? What aftercare instructions would you give?
- What X-rays are taken in a C spine series?
- What is SCIWORA? Which patient group is this most common in and what would make you suspect it? What imaging is used to further investigate it?
Outline the Canadian C-Spine rules?
What 5 things should you analyse when looking at synovial fluid results (arthrocentesis)?
- Appearance
- WBC count (PMN)
- Gram stain
- Crystals
- Glucose levels (compared to blood glucose levels)
What tests do you order for a synovial fluid aspirate/arthrocentesis? What goes on the path request form?
What is the significance of sodium monourate or calcium pyrophosphate dihydrate crystals in the SF?
- Key differences between the 2 conditions: Crystal Type? Crystal Shape? Birefringence? Joints affected? Associated with?
- Clinical importance?
The presence of sodium Monourate or calcium pyrophosphate dihydrate (CPPD) crystals in synovial fluid is significant because they are diagnostic of two specific types of crystal-induced arthritis. The identification of these crystals through polarized light microscopy is crucial for accurate diagnosis and appropriate management of these conditions.
Which 10 factors determine outcome or survival of the major auto-immune connective tissue diseases?
Organ involvement (particularly renal, pulmonary, cardiac, and CNS), early diagnosis, and adequate treatment response are among the strongest predictors of outcome. Disease-specific factors, such as serologic markers, along with the presence of comorbidities (e.g., cardiovascular disease), influence long-term survival.
Treatment adherence, avoidance of complications (such as infection and malignancy), and control of risk factors (e.g., smoking) also play a crucial role in determining outcomes.
When should the GP refer patients with these autoimmune connective tissue diseases and to whom?
Referral Access Criteria - WA Gov
Red flags - Consider urgent referral for patients with the following:
1. Chest pain - Suspected myocarditis
2. Neurological symptoms
Information That May Lead To More Urgent Categorisation
1. Renal involvement with deteriorating renal function
2. Vasculitis
3. Cardiac involvement
4. Weight loss with dermatomyositis/polymyositis
5. Significant proximal myopathy
Back Pain
- Aetiology: 8MSK? 3 Neoplastic? 4 Infectious? 2 Vascular? 3 Inflammatory? 5 Referred?
- Compare Inflammatory vs. Mechanical Back Pain in terms of; Onset? Pain? Morning stiffness? Age of onset? Symptoms? Associated condition?
Red Flags for Back Pain?
- Hypotension and bradycardia in a patient with signs of spinal cord compression are likely indicators of spinal shock.
- Pathological fractures, bone metastases, or referred pain (e.g., myocardial infarction, abdominal aortic aneurysm, aortic dissection) are more likely in older individuals with back pain.
When should you image a patient with back pain?
- Red flags?
RACGP position
- Non-specific low back pain is a clinical diagnosis and no tests are required.
- Unnecessary diagnostic imaging causes more harm than benefit because it can result in increased costs, delays in appropriate treatment, exposure to ionising radiation and increased absence from work.
- It may also lead to unnecessary referrals, procedures and surgery, and is associated with higher rates of prolonged disability.
- Diagnostic imaging for acute low back pain in adults is only recommended after careful clinical assessment that results in a high suspicion that there is a serious cause.
- Non-specific low back pain has a good prognosis and usually improves within four weeks if the patient uses simple pain strategies, avoids bed rest and maintains their usual activities.
What 7 diagnostic tools can help differentiate between mechanical and inflammatory back pain?
How should patients with inflammatory back pain and mechanical back pain be managed?
How do new treatments impact symptoms in spondyloarthropathies?
Clinical Impact:
- Rapid symptom relief: Many biologics and JAK inhibitors offer rapid onset of symptom relief, often within weeks of starting therapy, compared to traditional treatments like NSAIDs or conventional DMARDs.
- Reduced disease activity: Patients on biologics frequently achieve low disease activity or even clinical remission, where symptoms are minimal or absent.
How do new treatments impact employment prospects and structural disease outcomes in spondyloarthropathies?
What are the 4 major adverse drug reactions (ADR) associated with NSAID/Coxib agents? What should patients be told about short and long-term risks with use of these agents? How can these risks be minimised?
- GIT - PUD, Dyspepsia, Haemorrhage & Perforation
- Cardiovascular Adverse Effects - HTN, Stroke/MI Risk
- Renal - AKI & Electrolytes (hyperkalemia & hyponatraemia)
- Hematological - Platelet Dysfunction and Bleeding (Aspirin)
What are the 7 major adverse drug reactions (ADR) associated with TNF Blockers? What should patients be told about short and long-term risks with use of these agents? How can these risks be minimised?
- Increased Risk of Infections
- Malignancy Risk - Lymphoma & Non-melanoma skin cancer (SCC)
- Injection Site and Infusion Reactions
- Autoimmune Reactions - Drug induced lupus & Guillain-Barré
- Hepatotoxicity
- Cardiovascular Risks
- Immunogenicity
- What factors suggest malignant bone pain? (6)
- How can malignant bone pain be ruled in or ruled out? What imaging modalities may be useful? (5 diagnostic tools)
- What are 7 prognostic factors of osteogenic sarcoma? Survival Rates?
- What are 6 prognostic factors of metastatic bone cancer? Survival Rates?
Osteosarcoma Survival Rates
- 5-Year Survival Rate: For localized osteosarcoma, the 5-year survival rate is approximately 60-70%.
- For metastatic osteosarcoma at diagnosis, the 5-year survival rate drops to 15-30%.
Survival Rates of Metastatic Bone Cancer - Varies by Primary Cancer:
- Breast: Patients with bone-only metastases may live for many years with appropriate treatment, with 5-year survival rates ranging from 50-70%.
- Prostate: Bone metastases in prostate cancer can be managed effectively with hormonal therapy, with many patients living for several years.
- Lung: Prognosis for lung cancer with bone metastases is generally poorer, with survival rates being more variable and typically shorter compared to other cancers.
What treatment modalities exist for treatment of bone malignancy? (9)
- Surgery
- Chemotherapy
- Radiation therapy
- Targeted therapy - Tyrosine Kinase Inhibitors & Monoclonal antibodies
- Hormonal therapy
- Bone-Modifying Agents - Bisphosphonates & Denosumab
- Immunotherapy
- Clinical trials
- Palliative/Supportive Care
Hereditary haemochromatosis (HH)
- What is HH?
- How often and in what way are the joints affected in this condition?
Hereditary Hemochromatosis (HH) is a genetic disorder characterized by excessive iron accumulation in the body, leading to potential damage to various organs, including the liver, heart, pancreas, and joints. The iron overload results from increased intestinal absorption of iron and is primarily due to genetic mutations affecting iron metabolism.
Hereditary haemochromatosis (HH)
- How is the diagnosis of HH made?
Hereditary haemochromatosis (HH)
- How is HH treated?
Approach - Therapeutic phlebotomy and chelation therapy are the primary options for iron removal.
1. Therapeutic phlebotomy
2. Iron chelation therapy
3. Liver transplantation
4. Additional therapies
5. Patient counselling
How do patients with acute and chronic bone sepsis (acute vs. chronic osteomyelitis) present?
- Acute Osteomyelitis: Characterized by rapid onset of severe pain, swelling, redness, fever, and systemic symptoms. Diagnosed through imaging, bone biopsy, and blood tests, with treatment typically involving antibiotics and possibly surgical intervention.
- Chronic Osteomyelitis: Presents with persistent or intermittent pain, swelling, sinus tracts with drainage, and low-grade fever. Diagnosis includes imaging to assess bone changes, and bone biopsy for microbiological identification. Management often requires long-term antibiotics and surgical debridement.
What are the principles of management in acute and chronic bone sepsis?
What is meant by disc bulging and disc herniation or prolapse?
- Compare in terms of: Description? Location? Shape? Symptoms? Imaging?
- Disk protrusion: protrusion of the vertebral disk nucleus pulposus through the annulus fibrosus
- Disk herniation (disk extrusion or disk prolapse): complete extrusion of the nucleus pulposus through a tear in the annulus fibrosus
- Disk sequestration: extrusion of the nucleus pulposus and separation of a fragment of the disk
- Spondylosis: a broad term used to describe degenerative changes of the spine that may result in irritation and/or damage of the adjacent nerve roots or spinal cord
What complications are associated with disc prolapse?
- Compressive spinal emergencies?
- As dermatomal territories often overlap (except in autonomous sensory zones) and muscles are often supplied by several myotomes, sensory and motor deficits may be absent or minimal if a single spinal root is compressed.
- The affected nerve root is typically the one below the level of disk herniation (i.e., C4–C5 disk herniation leads to C5 radiculopathy; L4–L5 disk herniation leads to L5 radiculopathy).
When should surgical treatment be considered and to whom should patients with disc lesions be referred?
Surgery for LBP can be considered for patients who have unremitting pain and functional limitation for >1 year. Patients should maximise a comprehensive non-operative treatment regimen. Motion-preserving disc arthroplasty theoretically reduces stress and subsequent degeneration at adjacent levels. However, spinal degeneration is most commonly treated with a fusion procedure. This can be achieved by laying a bone graft posterolaterally or in the disc space, with or without instrumentation. Interbody fusion involves fusing the disc space from the front (anterior lumbar interbody fusion), side (oblique or direct lateral lumbar interbody fusion) or posterior (posterolateral or transforaminal interbody fusion). Studies have reported varied clinical success rates from 40% to 90%. Inconsistent results may be due to variable surgical indications, pathologies and surgical treatments. Patient selection is paramount for improving clinical outcomes.
What are the 7 most common traumatic fractures in the community?
Four case types accounted for 52% of all episodes in which a fracture was recorded and over 65% of bed-days due to fractures. These were:
1. Lower limb fracture due to a fall by a person aged 65+ years;
2. Upper limb or trunk fracture due to a fall by a person aged 65+ years;
3. Upper limb fracture due to a fall by a person aged 0-19 years, and;
4. Any fracture due to a transport accident at ages 5-54 years.
What is the difference between a simple and compound fracture?
Simple (Closed) Fracture: Bone fracture without skin penetration. Lower risk of infection, usually managed with casting or internal fixation.
Compound (Open) Fracture: Bone fracture with skin penetration and exposure. Higher risk of infection, requiring immediate wound care, debridement, and often more complex surgical treatment.
List 10 possible complications of fractures - particularly open/compound #s?
Acute complications
1. Acute compartment syndrome
1. Neurovascular injury (e.g., nerve injury, bleeding, hematoma, seroma)
1. Fracture blisters
1. Wound infection
1. Osteomyelitis
1. Secondary dislocation
Complications due to immobilization
1. Thrombosis (e.g., DVT, pulmonary embolism)
2. Infections, e.g.: Pneumonia, Urinary tract infection
Complications of nonweightbearing
1. Muscle atrophy
2. Crutch palsy
Compromised fracture healing
Longterm
List 10 Risk Factors for Gout = reasons why gout is increasing.
- 3 medications?
What is the second line treatment for gout after allopurinol?
What are the 4 main pharmacological options for the management for gout?
Urate-lowering Therapy for Gout
- 4 Indications?
- Target serum uric acid?
- When is prophylaxis indicated? How long for?
- MOA of Xanthine oxidase inhibitors? 2 Examples? Dose?
Urate-lowering therapy – Indications
A target serum uric acid of less than 0.30 mmol/L is recommended when tophi are present, otherwise less than 0.36 mmol/L is sufficient.
1. Tophi
2. Two or more attacks a year
3. Chronic kidney disease (stage 2 or worse)
4. Urolithiasis
Prophylaxis
- When starting urate-lowering therapy, concomitant prophylaxis should be provided for a min of 6 months to prevent flares of gout.
- NSAIDs and low-dose colchicine are first line and low-dose prednisolone is second line.
- Colchicine is equal to NSAIDs for long-term prophylaxis, however short-term NSAIDs or oral glucocorticoids may be appropriate depending on the patient’s comorbidities and drugs. A dose of 500 microgram (one tablet) of colchicine twice daily for people with normal renal function, and 500 micrograms daily in those with renal impairment, may be considered.
What is Probenecid? Which conditions is it used for? MOA?
**Uricosuric drugs **
Uricosurics promote the renal excretion of uric acid and are effective for controlling serum urate. Drugs such as probenecid inhibit organic anion transporters (OATs) in the kidney, which are responsible for the reabsorption of filtered uric acid. Caution is required in those with a history of kidney stones because uricosurics can precipitate uric acid stones. In patients at risk of renal calculi, if no other option is available, increased fluid intake and urinary alkalinisation may be considered. Probenecid is effective in patients with impaired renal function, contrary to previously held beliefs.
What are the main ADRs associated with gout therapies?
1. NSAIDs
2. Colchicine
3. Corticosteroids
4. Allopurinol
5. Febuxostat
6. Probenecid
What special considerations apply to the transportation of persons with suspected spinal injury? (10)
- Spinal Immobilization
- Log-Roll Manoeuvre
- Neutral Alignment
- Airway Management
- Continuous Monitoring
- Transport method
- Pain Management
- Avoid delays in transfer
- Consideration for other injuries & Spinal shock
- Clear communication & documentation
What 7 special risks do spinal fractures pose and how can these risks be minimised? (10) How are patients with serious spinal injuries managed in hospital?
What is Complete spinal cord injury? What is Incomplete spinal cord injury? What is Spinal Shock?
- Aetiology of Spinal Cord injuries: traumatic (5) & 3 non-traumatic?
Aetiology of Spinal Cord Injuries
Traumatic
1. Motor vehicle crashes
2. Falls (e.g., especially in older adults)
3. Severe sports injuries (e.g., diving, skiing)
4. Stab wounds and gunshot wounds
5. Iatrogenic injuries (e.g., following spinal surgery, due to antiplatelet agents)
Nontraumatic
1. Ischemic (e.g., atherosclerosis, aortic dissection, due to clamping during surgery, emboli)
2. Inflammatory (e.g., multiple sclerosis, transverse myelitis)
3. Compressive (e.g., spinal tumors, spinal abscesses, hematomas)
What are the clinical features of spinal cord injuries?
- Acute phase?
- Chronic phase?
The features of SCI depend on the level and severity of injury and the amount of affected spinal tissue. Most individuals with traumatic SCI have associated brain and systemic injuries (e.g., hemothorax, extremity fractures).
Spinal cord injuries
- Classification?
- Diagnosis?
- Differentials - spinal cord lesions?
Classification
- Complete SCI
- Incomplete SCI
1. Central cord syndrome
2. Anterior cord syndrome
3. Posterior cord syndrome
4. Brown-Séquard syndrome
5. Conus medullaris syndrome
6. Cauda equina syndrome
List 10 Prognostic Factors for Spinal Injuries.
1) Level of Spinal Injury
2) Severity of Spinal Cord Injury
3) Time to Treatment
4) Type of Fracture
5) Age of the Patient
6) Initial Neurological Status
7) Presence of Spinal Shock
8) Associated Injuries and Complications
9) Pre-existing Medical Conditions
10) Rehabilitation and Post-Injury Care
11) Psychological factors
12) Complications during treatment
Complications of Spinal Injuries
- 3 Acute phase?
- 10 Chronic phase?
- Pathophysiology of Autonomic dysreflexia?
Acute Phase
1. Neurogenic shock
2. Haemodynamic shock
3. Sinus bradycardia
Chronic Phase
1. Autonomic dysreflexia = a medical emergency. Remain vigilant for acute blood pressure elevations in patients with SCI above T6.
2. Neurogenic bladder
3. Bowel dysfunction
4. Spasticity
5. Coronary artery disease
6. Deep vein thrombosis
7. Orthostatic hypotension
8. Pneumonia
9. Major depressive disorder (MDD)
10. Central neuropathic pain
List 11 health conditions para and tetraplegics are at increased risk of?
- How is spasticity managed?
Spasticity Management
- Medications: Patients with paraplegia or tetraplegia may develop spasticity (involuntary muscle contractions), which can be managed with medications such as baclofen, tizanidine, or botulinum toxin injections.
- Intrathecal Baclofen Pumps: For severe spasticity, an implanted baclofen pump may deliver the medication directly to the spinal cord.
What is Haemarthrosis?
5 Risk factors?
3 Complications of a haemarthrosis?
Hemarthrosis refers to bleeding into a joint space, often as a result of trauma, underlying medical conditions, or anticoagulant use. It can lead to pain, swelling, and joint dysfunction. The knee is the most commonly affected joint, but it can occur in any synovial joint.
How should haemarthrosis be managed in the context of trauma?
- 8 Steps
- Imaging?
- Which tests?
How should haemarthrosis be managed in the context of an underlying spontaneous or iatrogenic bleeding disorder?
- 5 key points
- 8 points?
- Haemophilia A?
- Haemophilia B?
- Von Willebrand Disease?
- Warfarin?
- DOACs?
- Heparin?
- Surgery?
Key Points
1. Correct the Clotting Deficiency: Use clotting factor concentrates for inherited bleeding disorders or reversal agents for anticoagulants.
2. Avoid NSAIDs: Opt for pain management strategies that do not exacerbate bleeding risk.
3. Joint Aspiration: Can relieve pressure but requires careful consideration in patients with bleeding disorders.
4. Physical Therapy: Essential for preventing long-term joint damage and maintaining function.
5. Prophylactic Therapy: For patients with recurrent hemarthrosis, ongoing prophylactic treatment with clotting factors or antifibrinolytics may be required.
Osteomalacia & Rickets
- What are they?
- Aetiology?
- Pathophysiology?
Osteomalacia (in adults) / Rickets (in children)
- Cause: These conditions result from defective bone mineralization due to vitamin D deficiency, calcium deficiency, or phosphate deficiency.
- Osteomalacia (Adults): Characterized by softening of bones, leading to bone pain, muscle weakness, and fractures.
- Rickets (Children): Causes bone deformities such as bowing of the legs, delayed growth, and dental problems in children.
- Diagnosis: Low serum calcium, low phosphate, elevated parathyroid hormone (PTH), and decreased vitamin D levels.
- Treatment: Vitamin D and calcium supplementation.
Rickets
- Clinical features?
Osteomalacia is defective mineralization of existing bone and can occur in individuals with open or closed growth plates. Rickets is defective mineralization of new bone formation and, therefore, only occurs in children with open growth plates (i.e., before the end of puberty).
What are the 2 subtypes of Rickets?
- Which 7 lab investigations should you order for Osteomalacia/Rickets? What do you expect to see?
- What would you expect to see on imaging?
General principles
- Diagnosis is based on characteristic laboratory and imaging findings.
- If there is diagnostic uncertainty, refer patients to endocrinology for advanced studies.
Laboratory studies
- Obtain the studies listed in the table below.
- Common laboratory findings in vitamin D deficiency include ↓ Ca, ↓ phosphorus, ↑ PTH, and ↑ ALP).
Osteomalacia & Rickets
- Differential diagnoses of osteomalacia? (6)
- Differential diagnoses of rickets? (6)
- Treatment?
Differential diagnoses of osteomalacia
1. Bone metastases
2. Osteoporosis
3. Paget disease of bone
4. Hyperparathyroidism
5. Renal osteodystrophy
Differential diagnoses of rickets
1. Osteoglophonic dysplasia with dwarfism
2. Osteogenesis imperfecta
3. Neurofibromatosis
4. McCune-Albright syndrome
5. Child abuse/neglect
6. Congenital pseudarthrosis of the tibia
Paget’s Disease of Bone
- Cause?
- Symptoms?
- Diagnosis?
- Treatment?
- Epidemiology?
Paget’s Disease of Bone
- Cause: A chronic disorder where there is excessive bone remodelling, leading to enlarged, misshapen, and weakened bones.
- Symptoms: Often asymptomatic but may include bone pain, deformities (e.g., bowed legs), fractures, and hearing loss (if the skull is involved).
- Diagnosis: Elevated alkaline phosphatase (ALP) with normal calcium and phosphate levels, characteristic findings on X-ray, and bone scans.
- Treatment: Bisphosphonates (e.g., alendronate, zoledronic acid) to reduce bone turnover.
Paget’s Disease of Bone
- Pathophysiology?
- Clinical features?
Diagnosis of Paget’s Disease
- Approach?
- Imaging: xray finding?
- Bone scintigraphy: Idications? Use? Findings?
- Lab studies?
- Bone biopsy?
Diagnosis - Approach
Suspect PDB in adults with any of the following:
1. Idiopathic serum ALP elevation
2. Incidental radiographic findings of bone disease
3. Characteristic clinical features, e.g., bone pain
- THEN Obtain x-rays to confirm the diagnosis.
- PDB should be considered in asymptomatic patients with isolated total ALP elevation that cannot be explained by any other condition (e.g., cholestasis or bone metastases).
Bone scintigraphy
- Indications: all patients with confirmed PDB
- Use: to assess the extent of metabolically active disease
- Findings: Increased uptake of Tc-99m resulting from increased vascularity in active pagetic foci
Paget’s Disease of Bone
- 4 Differentials?
- 4 Complications?
- Treatment?
Differential diagnoses of Pagets
1. Bone metastases
2. Primary hyperparathyroidism
3. Osteopetrosis (marble bone disease)
4. Fibrous dysplasia
Complications
1. Osteoarthritis
2. Malignant degeneration into osteosarcoma (very rare: < 1% of cases)
3. High-output cardiac failure (due to the formation of arteriovenous shunts within the bone, which leads to an increased overall blood flow)
4. Hyperuricemia
Primary Hyperparathyroidism
- Epidemiology?
- Aetiology?
- Pathophysiology?
- Clinical features?
Primary Hyperparathyroidism
- Cause: Excess secretion of parathyroid hormone (PTH), leading to increased bone resorption and elevated serum calcium.
- Symptoms: Often asymptomatic but may include bone pain, fractures, kidney stones, and gastrointestinal issues.
- Diagnosis: Elevated calcium, elevated PTH, and low phosphate levels.
- Treatment: Surgical removal of the overactive parathyroid gland or medical management in mild cases.
Clinical features of hypercalcaemia?
Diagnosis of Primary Hyperparathyroidism
- Lab studies?
- Imaging: Routine? Additional?
Management of Primary Hyperparathyroidism
- Surgery: Indications? Procedures?
- Pharmacology: 2 meds?
- Complications?
Hypoparathryoidism
- Aetiology?
- Clinical features?
- Acute manifestations?
- Chronic manifestations
Hypoparathyroidism
- Cause: Deficiency of parathyroid hormone (PTH), resulting in low calcium levels and high phosphate levels.
- Symptoms: Muscle cramps, tetany, seizures, and in chronic cases, brittle bones due to decreased calcium levels.
- Diagnosis: Low serum calcium, low PTH, and high phosphate.
- Treatment: Calcium and active vitamin D supplementation (calcitriol).
Acute manifestations
Clinical features of hypocalcemia, e.g.:
1. Neurological: tetany, laryngospasm, seizures
2. Cardiac: arrhythmias
The presence of the Chvostek sign or Trousseau sign in response to provocative maneuvers may help to identify latent tetany in patients with asymptomatic hypocalcemia.
Hypoparathryoidism
- Definition?
- Diagnosis: Lab studies? Additional studies?
- Treatment & Monitoring?
Treatment
Pharmacotherapy
1 - Vitamin and mineral supplementation: indicated for all patients
- Calcium
- Vitamin D
- Magnesium
2 - PTH replacement therapy (subcutaneous recombinant human PTH 1–84)
- Indicated in patients with inadequate serum calcium control and/or adverse effects from conventional therapy
- Decreases calcium and vitamin D supplementation needs
Monitoring - Patients on stable therapy: serum creatinine, calcium, magnesium, and phosphate levels every 3–12 months
CKD-MBD & Renal Osteodystrophy
- Definitions?
- Pathophysiology?
- Histological classification?
- Clinical features?
- Diagnostics?
- Treatment?
Renal Osteodystrophy
- Cause: A consequence of chronic kidney disease (CKD), leading to disturbed calcium and phosphate metabolism, with secondary hyperparathyroidism and altered bone remodeling.
- Symptoms: Bone pain, fractures, muscle weakness, and growth retardation in children.
- Diagnosis: Elevated PTH, elevated phosphate, low or normal calcium, and altered vitamin D metabolism.
- Treatment: Phosphate binders, calcitriol (active vitamin D), and management of CKD.
Osteogenesis Imperfecta
- Also known as?
- Definition?
- Epidemiology?
- Pathophysiology?
Osteogenesis Imperfecta
- Cause: A genetic disorder caused by defective collagen production, leading to brittle bones.
- Symptoms: Frequent fractures, blue sclerae, hearing loss, and short stature.
- Diagnosis: Genetic testing, bone density tests, and characteristic clinical features.
- Treatment: Bisphosphonates to strengthen bones, physical therapy, and fracture management.
Osteogenesis Imperfecta
- 2 Types & their clinical features?
- Diagnostics?
- Therapy?
- BITE?
- What can #s from OI easily be mistaken for?
Individuals with osteogenesis imperfecta can’t BITE: Bones (recurrent fractures), I (“eye” = blue sclerae), Teeth (dental abnormalities), Ears (hearing loss).
Bone fractures from osteogenesis imperfecta are easily mistaken for signs of child maltreatment.
Osteopetrosis
- Definition?
- Epidemiology?
- Aetiology?
- Pathophysiology?
- Clinical features?
- Diagnostics?
- Therapy?
Osteopetrosis
- Cause: A rare genetic disorder where bones become overly dense due to defective osteoclast function.
- Symptoms: Brittle bones prone to fractures, cranial nerve compression (causing blindness or deafness), and anemia due to bone marrow compression.
- Diagnosis: X-rays showing “marble bone” appearance, genetic testing.
- Treatment: Bone marrow transplantation for severe forms, calcium and vitamin D supplements, and management of fractures.
Scurvy
- Causes?
- Clinical features?
- Diagnosis?
Scurvy (Vitamin C Deficiency)
- Cause: Vitamin C deficiency, which is essential for collagen synthesis, leading to weak bones and impaired healing.
- Symptoms: Bone pain, particularly in children (due to subperiosteal hemorrhage), gum disease, and fatigue.
- Diagnosis: Clinical features, low vitamin C levels.
- Treatment: Vitamin C supplementation.
List 10 treatments that are useful for MBD, their indications, MOA and the major ADRs associated with use of these agents?
- How can these ADRs be monitored/minimised?
- Vitamin D and Calcium Supplementation
- Bisphosphonates
- SERMs
- PTH Analogues
- Denosumab (prolia)
- Calcitonin
- Phosphate binders
- Cinacalcet
- Romosozumab
- Thiazide Diuretics
Monitoring and Minimizing ADRs
- Regular Monitoring: Bone density scans (DEXA) are essential for tracking treatment efficacy in osteoporosis and other metabolic bone diseases.
- Blood Tests: Monitor calcium, phosphate, PTH, and vitamin D levels regularly to adjust treatment and prevent complications.
When should the family physician consider referral to a physiotherapist, a rheumatologist, or an orthopaedic surgeon for Osteoarthritis?
- Physiotherapist: Early OA or when functional improvement with exercise is the goal.
- Rheumatologist: Diagnostic uncertainty, suspicion of inflammatory arthritis, or failure of conservative treatment.
- Orthopaedic Surgeon: Severe OA with debilitating symptoms, mechanical issues, or failure of non-surgical interventions, with a potential need for surgery.
What are the specific medical and surgical treatment options for knee OA and hip OA?
- Medical - non-pharm?
- Pharm?
- 6 Surgical options?
Summary of Treatment Approach:
- Mild-to-moderate OA: Managed conservatively with lifestyle modifications, physiotherapy, and pharmacological treatments such as NSAIDs and acetaminophen.
- Severe OA or failure of non-surgical management: Surgery (total joint replacement) is the definitive treatment for patients with advanced knee or hip OA, especially when pain and functional limitations are significant. Joint replacement leads to significant improvements in pain relief and mobility.
What are 7 indications for knee and hip arthroplasty?
Complications of knee and hip arthroplasty:
- 6 Early?
- 7 Late?
What factors contribute to an increased risk for Osteoporosis?
- 6 Non-modifiable?
- 10 Modifiable?
Other Contributing Factors
1. Excessive Caffeine Intake: High caffeine consumption may interfere with calcium absorption, though its impact on osteoporosis is relatively minor.
2. Low Sun Exposure: Insufficient sun exposure can lead to vitamin D deficiency, reducing calcium absorption and bone health.
What is the difference between a stress or insufficiency fracture, a traumatic fracture and a pathological fracture?
- Stress fractures occur due to repeated overuse, typically in healthy bones.
- Insufficiency fractures occur when weakened bones (e.g., from osteoporosis) fracture under normal stress.
- Traumatic fractures happen after significant injury to normal bones.
- Pathological fractures occur in bones weakened by disease (e.g., cancer, infection) and require minimal trauma.
What are the 5 common fractures that occur in OP?
- Location, Mechanism, Symptoms, Clinical Impact?
Summary of Common Fractures in Osteoporosis:
1. Vertebral compression fractures (spine).
2. Hip fractures (femoral neck or intertrochanteric region).
3. Distal radius fractures (Colles’ fracture).
4. Proximal humerus fractures (shoulder).
5. Pelvic fractures (pubic rami)
6. Other Common Fractures
Ribs: Osteoporotic patients are more susceptible to rib fractures, which can occur with minimal trauma like coughing or twisting. Ankle fractures: Although less common, ankle fractures can also occur due to falls or twisting injuries, especially in older adults with osteoporosis.
The most common fractures in patients with osteoporosis occur at sites where bone density loss is more pronounced, particularly in areas that bear weight or experience frequent stress.
Osteoporosis
- vs. Osteopenia?
- Epidemiology: Sex, Age of Onset? Demographics?
- Aetiology: Primary? Secondary?
- Osteoporosis: loss of trabecular and cortical bone mass which leads to bone weakness and increased susceptibility to fractures
- Osteopenia: decreased bone strength but less severe than osteoporosis
Epidemiology
- Sex: ♀ > ♂ (∼ 4:1)
- Age of onset: 50–70 years
- Demographics: higher incidence in individuals of Asian, Hispanic, and northern European ancestry
Osteoporosis
- Clinical features?
- Pathology?
- 5 Differentials?
Pathology
- Thin, disconnected trabecular structures
- Attenuated, pitted cortical bone
- Increased osteoclast number and activity
Differential diagnoses
1. Osteomalacia
2. Hyperparathyroidism
3. Metastases
4. Multiple myeloma
5. Intraosseous hemangioma
Diagnosis of Osteoporosis
- Approach?
- Bone mineral density (BMD) assessment?
- 3 alternatives?
Alternatives
1. Peripheral DXA: measures BMD at the distal forearm
2. Quantitative computed tomography: Provides a volumetric measurement of
3. BMD at the lumbar spine and hip: Can measure density of trabecular bone
