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Bone and Joint Pathology - Coggle Diagram

- - - - Osteogenesis Imperfecta (AD)
      - Osteopetrosis (Marble Bone Disease) Non-Rheumatologic
        (AR)
        
        Phathophys
        
        Defective Osteoclast leading to decreased bone resorption leading to thick, poorly formed bone causing increased risk of fracture
        :red_flag:
        
        Carbonic Anhydrase II Mutation impairs Osteoclast ability to create acidic environment :red_flag:
        
        Presentation
        
        Recurrent pathologic fractures
        
        Cranial Nerve Palsies (due to hyperostosis of foramina) Visual Defects :red_flag:
        
        Pancytopenia (due to overgrowth of cortical bone crowding bone marrow space) - Leads to Extramedullary Hematopoiesis
        
        Diagnostic
        
        Symmetric dense osteosclerosis (Bone-in-Bone appearance/"Stone Bone") :red_flag:
        
        Serum Labs
        
        Normal/Decreased Ca+ :red_flag:
        
        Normal PO4, ALP, PTH :red_flag:
        
        (+) Tartrate-Resistant Acid Phosphatase Test
        
        RX
        
        Bone Marrow Transplant
        
        High dose calcitriol (VitD) (stimulates osteoclasts) :red_flag:
      - Achondroplasia (GOF) (AD) Non-Rheumatologic
        
        Pathophys
        
        Chromosome 4 :red_flag:
        
        Risk increases with Paternal Age
        
        FGFR (Fibroblast) Upregulation Mutation leads to decreased Chondrocyte proliferation/endochondral ossification
        
        Presentation
        
        Craniofacial abnormalities: Macrocephaly, frontal bossing, flattened nose, prominent brow
        
        Recurrent otitis media :red_flag: due to ear bone growth deformity
  - - - Osteitis Fibrosa Cystica Brown/Tumor (Non-Rheumatologic)
        
        Pathophys
        
        Increased PTH causing increased RANKL activation resulting in high osteoclast activity which forms cystic bone spaces/brown fibrous tissue (Brown Tumor)
        
        Primary Hyperparathyroidism:
        
        Idiopathic
        
        Parathyroid Adenoma :red_flag:
        
        Malignancy/Carcinoma
        
        Secondary Hyperparathyroidism
        
        CDK
        
        Presentation
        
        Signs of Primary Hyperparathyroidism
        
        Weakness
        
        Constipation/abdominal Pain
        
        Psychiatric Changes (Depression/Feeling down)
        
        Diagnostic
        
        Physical
        
        Subperiosteal Thinning :red_flag:
        
        Cystic Lesions :red_flag:
        
        Salt-and-pepper Skull :red_flag:
        
        Decreased Bone Mineral Density
        
        Primary Hyperparathyroidism Serum
        
        Increased
        
        Ca+ :red_flag:
        
        ALP
        
        PTH (Phosphate Trashing Hormone - Decreases phosphate)
        
        Decreased
        
        PO4 :red_flag:
        
        Secondary Hyperparathyroidism Serum (CKD)
        
        Increased
        
        PO4 :red_flag:
        
        ALP
        
        PTH (If PTH gets rid of Phosphate, why is it increased here?
        Disease Kidney can not "Trash" Phosphate so it increases)
        
        Decreased
        
        Ca+ :red_flag:
        
        RX
        
        VitD
      - Renal Osteodystrophy
      - Osteoporosis (Non-Rheumatologic)
        
        Pathophys
        
        Risk Factors: Age/sex, smoking, EtOH, nutrition, VitD
        
        Secondary Causes: Corticosteroids, Hyperparathyroidism-->(think of pseudogout), Renal, Proton Pump Inhibitors
        :red_flag:
        
        Increased osteoclast activity compared to osteoblast resulting in increased bone resorption causing loss of bone mass
        :red_flag:
        
        Types
        
        Type 1 (Postmenopausal)
        
        Decreased Estrogen leading to increased bone resorption
        
        Type 2 (Senile)
        
        Decreased Osteoblast leading to increased bone resorption
        
        Presentation (Often asymptomatic)
        
        Fragility Fractures (occurring during regular events) :red_flag:
        
        Often vertebral fractures/Femoral neck/Distal radius :red_flag:
        
        Loss of height
        
        Diagnostic
        
        Cortical Thinning :red_flag:
        
        Radiolucency :red_flag:
        
        Serum: Normal Ca+, PO4, ALP, PTH :red_flag:
        
        RX
        
        Bisphosphonates
        
        Names
        
        Risedronate
        
        Zoledronic Acid
        
        Alendroate
        
        Adverse: Jaw Osteonecrosis, Esophagitis, Hypocalcemia
  - - - Rickets/Osteomalacia (Vit D) (Non-Rheumatologic)
        
        Pathophys
        
        Decreased VitD leading to decreased Ca+ causing defective osteoid mineralization :red_flag:
        
        Children: Impaired Growth Plate Mineralization due to decreased UV, Malabsorption of fat soluble vit.
        :red_flag:
        
        Presentation
        
        Bone Pain, pathologic fractures, myopathy
        
        Children: Bony deformity (Genu Varum, Kyphosis)
        
        Diagnostic
        
        Osteomalacia (Pseudofractures "looser zones", Osteopenia)
        
        Serum
        
        Decreased: Ca+, PO4, :red_flag:
        
        Increased: ALP, PTH :red_flag:
      - Osteitis/Deformans/Paget Disease (viral) (Non-Rheumatologic)
        
        Presentation:
        
        Less than 55 often asymptomatic
        
        Skull, vertebral column, pelvis, long bones :red_flag:
        
        Enlarging Skull/Hat Size :explode:
        
        Hearing Impairments (Nerve Compression) :red_flag:
        
        Diagnostic
        
        Poorly formed bone, areas of osteolytic lesions/sclerosis
        
        Normal Serum: Ca+, PO4, PTH :red_flag:
        
        Increased Serum: ALP :red_flag:
        
        RX
        
        1st Line: Bisphosphates :red_flag:
        
        Drugs
        
        Alendroate
        
        Risedronate
        
        Zoledronic Acid
        
        Adverse :red_flag:
        
        Jaw Osteonecrosis
        
        Esophagitis
        
        Hypocalcemia
        
        MOA
        
        Breaks down Osteoclasts
        
        Alternative
        
        Calcitonin
        
        VitD/Calcium
        
        NSAIDs
        
        Pathophys
        
        Normal Bone Remodeling phase
        
        (1) Lytic Phase: Upregulation of osteoclasts over osteoblasts causing bone Resorption
        
        (2) Mixed Lytic & Blastic Phase: Osteoclast activity = osteoblast activity causing increased bone formation
        
        (3) Sclerotic Phase: Upregulation of osteoblast over osteoclast causing increased bone formation
        
        (4) Quiescent Stage: Decreased osteoclast/blast activity
        
        Problem
        
        Upregulation of RANKL & RANK leading to upregulation of NF-kB causing unbalanced osteoclast/blast activity resulting in Woven bone formation disruption.
        (Increased Osteoclast activity causes increased Osteoblast Numbers) High Osteoblast numbers is the problem
        
        Complications: High-output Cardiac failure + Osteosarcoma :red_flag:
  - - - Tuberculous Osteomyelitis (Secondary to..)
      - Osteonecrosis/Avascular Necrosis (Secondary to...)
      - Osteomyelitis (Secondary to...)
- - - - Osteoid Osteoma (Bone)
      - Osteoblastoma (Bone, Spine)
      - Fibro Dysplasia (Bone, Long Bones)
      - Osteoma (Bone)
    - - Chondroma (Cartilage)
      - Osteochondroma & Enchondroma (Bone/Cartilage, Knee)
  - - - Osteosarcoma (Femur/tibia)
      - Ewing Sarcoma (Femur/Pelvis)
      - Giant Cell Tumor (Knee)
      - Metastatic Disease (Axial Skeleton, Femur, Humerus)
    - - Chondrosarcoma (Central Axial)
- - - - Juvenile Idiopathic Arthritis (Still's Disease) (Rheumatologic)
        
        Presentation :explode:
        
        Less than 15 years old (Peak 2-4 y/o) :red_flag:
        
        Intermittent Spinking Fevers :red_flag:
        
        Arthritis involving more than two joints (Knee, ankle, wrist) lasting more than 6 weeks
        :red_flag:
        
        Uveitis (eye inflammation), Salmon-colored Macular Rash, Hepatosplenomegaly, Serositis
        :red_flag:
        
        Diagnosis:
        
        Elevated Serum Labs
        
        ESR (inflammatory Marker) :red_flag:
        
        CRP (Inflammatory Marker) :red_flag:
        
        WBC
        
        Decreased Serum Labs
        
        RBC
        
        Non-Specific Serology
        
        (+) ANA :
        
        (-) RF
        
        RX
        
        NSAID (acutely)
        
        Indomethacin :red_flag:
        
        DMARDs
        
        Methotrexate :red_flag:
        
        Steroids
        
        TNF Inhibitors (Don't use for TB or HepB patients)
        
        Etanercept
      - Seronegative Spondyloarthritis (Mnemonic: PAIR) (HLA-B27) (Rh Negative)
        
        Reactive Arthritis (Reiter Syndrome) (HLA-B27)
        
        Pahtophys
        
        Increased immune response to infection increases T-Cell/Macrophage Recruitment causing Joint Synovium, Conjunctiva, Urethra, Cutaneous infiltration/Damage :red_flag:
        
        Presentation
        
        Asymmetric Migratory Oligoarthritis (Lower Extremities) :red_flag:
        
        Classic Triad (Can't See, Can't Pee, Can't Bend my Knee)
        
        Conjunctivitis (Can't See) :red_flag:
        
        Urethritis (Can't Pee) :red_flag:
        
        Arthritis (Can't Bend my Knee) :red_flag:
        
        Cutaneous Manifestation
        
        Keratoderma Blenorrhagicum (Excessive
        Keratinization on feet) :red_flag:
        
        Diagnostic
        
        Triggering Infections
        
        Gram (-)
        
        Chlamydia :red_flag:
        
        E. Coli :red_flag:
        
        Campylobacter
        
        Shigella :red_flag:
        
        Salmonella :red_flag:
        
        Yersinia
        
        Gram (+)
        
        C. Diff :red_flag:
        
        Ureaplasma Urealyticum
        
        Serum
        
        Increased CRP/ESR :red_flag:
        
        (-) RF & (-) Anti-CCP :red_flag:
        
        Management
        
        Self-Limited over months
        
        Symptoms
        
        NSAIDs
        
        Glucocorticoids :red_flag:
        
        DMARDs (Chronic/Severe) :red_flag:
        
        Antibiotics
        
        Ankylosing Spondylitis (HLA-B27)
        
        Pathophys
        
        Increased TGF-B, TNF-a, IL-17, IL-23 increases T-Cell/Macrophage Recruitment causing Joint Erosion/Bone Spurs
        
        Presentation
        
        Males dominant 15-35 years old :red_flag:
        
        Symmetric Bilateral Lower Back Pain (Sacroiliac Joint :explode:) :red_flag:
        
        Pain improves with activity (NOT REST) :red_flag:
        
        Decreased Spine Mobility
        
        Peripheral Arthritis, Anterior Uveitis, Restrictive Lung Disease, Aortitis/Aortic Regurgitation, Enthesitis (tendon/Ligament inflammation)
        
        Diagnostic
        
        X-RAY
        
        Vertebral Fusion (Bamboo Spine)
        
        Erosion/Sclerosis of SI Joints (Iliac Side of SI Joint)
        
        Markers
        
        HLA-B27 :red_flag:
        
        ESR + CRP (Inflammatory Markers)
        
        RX
        
        Physical Therapy/Surgery
        
        NSAIDs
        
        TNF-a Inhibitors (Don't use for TB or HepB patients)
        
        Infiximab
        
        Etanercept
        
        IBD-Associated Spondyloarthritis (HLA-B27)
        
        Pathophys
        
        Associated with Crohn's Disease/ Ulcerative Colitis
        :red_flag:
        
        Presentation
        
        IBD Symptoms
        
        Diarrhea (bloody) :red_flag:
        
        Abdominal Pain :red_flag:
        
        Weight Loss :red_flag:
        
        Asymmetric Oligoarthritis (multiple areas of pain) :red_flag:
        
        Uveitis, Enthesitis ( typically on achilleas tendon), Dactylitis
        
        Diagnosis
        
        HLA-B27 :red_flag:
        
        Increased CRP, ESR (Proinflammatory markers) :red_flag:
        
        RX
        
        Symptoms
        
        NSAIDs
        
        Glucocorticoids
        
        Underlying IBD
        
        DMARDs
        
        TNF-a inhibitors (Not with TB or HebB
        
        Mesalazine
        
        Psoriatic Arthritis (HLA-B27)
        
        Pathophys
        
        Increased INF-a, IL-6, TNF-a increases T-Cell Recruitment to skin & Joints which upregulates Osteoclast activation leading to Osteolysis
        
        Presentation
        
        30-50 years old :red_flag:
        
        Asymmetric Oligoarthritis (few joints) :red_flag:
        
        Symmetric Polyarthritis (many joints) (later stages) :red_flag:
        
        Skin psoriasis, nail pitting, Enthesitis, dactylitis (Sausage Digits) :red_flag:
        
        Occasionally Uveitis
        
        Diagnostic
        
        X-Ray
        
        Pencil-in-cup Deformity of DIP joint :red_flag:
        
        Paravertebral Ossification :red_flag:
        
        Serum
        
        Elevated CRP, ESR, Uric Acid (Recall gout) :red_flag:
        
        (-)RF :red_flag:
        
        RX
        
        NSAIDs
        
        DMARDs
        
        TNF-a Inhibitors (Not with TB.HepB patients) :red_flag:
        
        Glucocorticoids
      - Rheumatoid Arthritis (HSR III/IV) (Rheumatologic)
        
        Pathophys
        
        IgM (Rheumatoid Factor) Against Fc of IgG :red_flag:
        
        Proliferative Angiogensis leading to increased Granulation tissue/Pannus Formation causing Hypertrophy of Synovium + Bone/Cartilage Destruction :red_flag:
        
        Risk Factors: HLA-DR1, HLA-DR4, Smoking :red_flag:
        
        Associated Conditions
        
        Felty Syndrome (Arthritis, Neutropenia, Splenomegaly) :red_flag:
        
        Caplan Syndrome (Pneumoconiosis)
        
        Presentation
        
        Constitutional Symptoms + Age
        
        Symmetric Involvement: MCP + PIP Joints (Wrist, Knees, Morning Stiffness Differs from osteoarthritis) :red_flag:
        
        Joint Deformity
        
        Atlantoaxial Subluxation, :red_flag:
        
        Boutonniere Deformity (PIP Flexion, DIP Hyperextension) :red_flag:
        
        Swan Neck Deformity (PIP Hyperextension, DIP Flexion) :red_flag:
        
        Extra-Articular Manifestations
        
        RA Nodules :explode:
        
        ILD
        
        Pleural Effusions
        
        Carpal Tunnel Syndrome
        
        Anemia of Chronic Disease
        
        Diagnostic
        
        X-Ray
        
        Soft Tissue Swelling
        
        Osteopenia :red_flag:
        
        Marginal Erosions of Bone/Cartilage
        
        Joint Space Narrowing :red_flag:
        
        Autoantibody
        
        Anti-Cyclic Citrullinate Peptide (anti-CCP) :explode:
        
        Rheumatoid Factor (RF) :explode:
        
        Antinuclear Antibody (ANA) :explode:
        
        Synovial Fluid
        
        WBC: 5000-50,000
        
        RX
        
        Acute
        
        NSAIDs (COX-2 Inhibitor)
        
        Celecoxibtext
        
        Glucocorticoids text
        
        Disease-Modifying Antirheumatic Drugs (DMARDs)
        
        Methotrexate (First Line) :explode:
        
        Hydroxychloroquine
        
        Sulfasalazine
        
        Lefunomide
        
        Biologic DMARDS for Persistent Disease (TNF-a Inhibitors)(Don't use for TB or HepB patients)
        
        Etanercept (Use when Rheumatoid does not respond to therapy)
        
        Infiximab
  - - - Pseudogout CPPD (AD) (Non-Rheumatologic)
        
        Pathophys
        
        Precipitation of calcium pyrophosphate dihydrate crystals deposition into tissue causing inflammatory crystalline arthropathy
        :red_flag:
        
        Associated with: Hemochromatosis, Hyperparathyroidism, Joint Trauma
        
        Selft-limiting
        
        Presentation
        
        Acute mono-articular knee pain (can be asymptomatic)
        
        Decreased ROM, Swelling, warmth, erythema, tenderness
        
        Common in older patients (Idiopathic) :red_flag:
        
        Diagnostic
        
        Arthrocentesis/Synovial Fluid Analysis (Gold Standard)
        
        Rhomboid-Shaped Crystals, weakly (+) Birefringence under polarized light
        :red_flag:
        
        Blue under parallel light, yellow under perpendicular light :red_flag:
        
        Normal Serum Uric Acid
        
        Chondrocalcinosis (Calcification of cartilage) :red_flag:
        
        Joint space radiopacity :red_flag:
        
        RX
        
        Acute
        
        NSAIDs
        
        Glucocorticoids
        
        Colchicine
        
        Chronic
        
        NSAIDs
        
        Colchicine
      - Gout (Non-Rheumatologic)
        
        Pathophys
        
        Increased Uric Acid Production or Reduced Excretion
        
        Precipitation of monosodium urate crystals deposition into tissue causing inflammatory crystalline arthropathy :red_flag:
        
        Risk Factors
        
        Pathology
        
        Tumor Lysis Syndrome :red_flag:
        
        Lesch-Nyhan Syndrome :red_flag:
        
        Von-Gierke Disease :red_flag:
        
        High Purine Intake (Meat/EtOH) :red_flag:
        
        RX
        
        Thiazide and Loop Diuretics
        
        Asprine
        
        Niacin
        
        Presentation
        
        Acute Mono-articular pain in 1st MTP Joint
        
        Decreased ROM, Swelling, warmth, erythema, tenderness
        
        Night Waking Pain :red_flag:
        
        Diagnostic
        
        Arthrocentesis/Synovial Fluid Analysis (Gold Standard)
        
        Needle-Shaped Crystals, (-) Birefringence under polarized light
        :red_flag:
        
        Needle-Crystals, Yellow under Parallel light, blue under perpendicular light :red_flag:
        
        Serum Uric Acid Elevated (Hyperuricemia) :red_flag:
        
        RX
        
        Acute :red_flag:
        
        NSAIDS
        
        Indomethacin
        
        Naproxen
        
        Colchicine (microtubule inhibitor)
        
        Steroids
        
        Chronic :red_flag:
        
        Xanthine Oxidase Inhibitors
        
        Allopurinol
        
        Febuxostat
        
        Uricosuric Agents
        
        Probenecid (Uric Acid Reabsorption inhibitor)
  - - - Osteoarthritis (Non-Rheumatologic)
        
        Pathophys
        
        Chronic Mechanical Stress on joint
        
        Decreased Proteoglycans = decreased cartilage elasticity
        
        No Infection: Non-inflammatory Synovial Joint Fluid (WBC<2000)
        
        Presentation
        
        Heberden Nodes (DIP Joint)
        
        Bouchard Nodes (PIP Joint)
        
        Crepitus/Decreased ROM (cracking of joint)
        
        Asymmetric, Irregular Joint Space Narrowing
        
        Subchondral Sclerosis
        
        Rx
        
        Topical/oral NSAID
        
        Glucocorticoid Injection
      - Ganglion Cyst (Tendon)
  - - - Suppurative Arthritis (Bacterial)
      - Septic Arthritis (Non-Rheumatologic)
        
        Pathophys
        
        Exposure to infection (Hematogenous-from distant site vs. Direct Contamination-directly on bone)
        
        Staph A./Strep, Neisseria Gonorrhoeae/Pseudomonas Aeruginosa :red_flag:
        
        Disseminated Gonococcal infections
        
        Risk Factors
        
        RA/IVUD/Prosthetics/Gout/DM/Immunosuppression
        
        Presenetation
        
        Monoarticular knee pain :red_flag:
        
        Decreased ROM, Swelling, warmth, erythema, tenderness :red_flag:
        
        Fever :red_flag:
        
        Disseminated Gonococcal infection :red_flag: spreads
        
        Diagnostic
        
        Arthrocentesis/synovial fluid analysis (gold standard)
        
        Purulent synovial fluid with increased WBC (Neutrophil) :red_flag:
        
        Soft tissue swelling, potentially unremarkable with protheses
        
        RX
        
        Antibiotics
      - Lyme Disease (Parasite)