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Updated: Oct 9 2022

Hemophilia

4.2

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  • summary
    • Hemophilia is a congenital bleeding disorder that results from an X-linked recessive mutation leading to a decrease in clotting factor VIII or factor IX. Patients present withe excessive bleeding into joints, most commonly the knee. 
    • Diagnosis is made with a plasma factor VIII or IX inhibitor assay.
    • Treatment is medical management with pain management and clotting factor administration. 
  • Epidemiology
    • Incidence
      • Hemophilia A
        • approx. 1 in 5000 boys/men
      • Hemophilia B:
        • approx. 1 in 30,000 boys/men
    • Anatomic location
      • excessive bleeding into joints and muscle
      • hemarthrosis most commonly affects the knee
      • other joints affected include
        • elbow, ankle, shoulder, and spine
  • Etiology
    • Two forms
      • Hemophilia A
        • decreased or absent factor VIII
      • Hemophilia B
        • decreased or absent factor IX
    • Pathophysiology
      • Factors VIII and IX required for the generation of thrombin in the intrinsic coagulation pathway
      • results in unstable clot formation and excessive bleeding
    • Genetics
      • inheritence pattern
        • congential hemophilia
          • X-linked recessive disorder (typically affects males only)
        • aquired hemophila
          • rare condition with autoimmune ethiology, with no genetic inheritence
    • Orthopaedic manifestations
      • hemophilic arthropathy
        • synovitis
        • cartilage destruction
        • joint deformity
        • pseudotumor
      • intramuscular hematoma (pseudotumor)
        • may lead to nerve compression
          • iliacus hematoma may compress femoral nerve and presentswith paresthesias in the L4 distribution
      • leg length discrepancy
        • due to epiphyseal overgrowth
      • fractures
        • due to generalized osteopenia
        • will heal in normal time
      • compartment syndrome
  • Presentation
    • History
      • male gender
      • family history of hemophilia, usually maternal uncles
    • Symptoms
      • recurrent or severe bleeding
      • bleeding in unusual places (e.g. joints)
      • mucocutaneous bleeding (e.g. gums, nose, easy bruising)
    • Physical Examination
      • inspection
        • pallor
        • joint effusions
        • bruising
      • movement
        • joint tenderness
        • decreased ROM
        • focal neurological deficits
        • muscle pain (bleeding most commonly in quadriceps, hamstrings, iliopsoas, biceps, triceps)
  • Imaging
    • Radiographs
      • recommended views of knee
        • AP, lateral, oblique and skyline
      • general findings
        • epiphyseal overgrowth
        • generalized osteopenia
        • fractures
        • irregularity of the joint space
        • joint effusion
      • specific findings
        • squaring of patella and femoral condyles (Jordan's sign)
        • ballooning of distal femur
        • widening of intercondylar notch
        • patella appear long and thin on lateral
    • CT scan
      • indication
        • evaluate pseudotumors
        • characterize fracture pattern
      • findings
        • determine the location of pseudotumor in soft-tissue or bone
        • better visualization of fracture pattern and characteristic
        • MRI better than CT at visualizing soft tissue characteristics
    • MRI
      • indication
        • soft tissue evaluation
        • evaluate cartilage
      • findings
        • hemarthrosis, synovitis, and hemosiderin deposition in the joint
        • best visualization modality of soft-tissue anatomy
    • Ultrasound
      • indication
        • differentiate effusion from pseudotumor
        • often helpful to prospectively follow intramuscular hematomas
  • Studies
    • Labs:
      • CBC (check Hb levels)
      • aPTT prolonged, PT normal
      • plasma factor VIII or IX inhibitor assay
      • plasma factor VIII or IX activity level 
      • LFTs normal
    • Screening
      • Bethesda assay
        • performed if blood factor VIII or IX inhibitor are positive
        • measures the amount of factor VIII or IX antibody in the blood
        • measurements=no titre, <5 BU (low levels), >5BU (high levels)
  • Treatment
    • Nonoperative
      • analgesics, pain team evaluation, physiotherapy,
        • indications
          • non-life threatening bleeds into joint or muscle
          • adjunct measures
        • modalities
          • codiene in children should be moderated by local prescriber
          • joint immobilization and joint paracentesis are not routinely recommended
      • factor VIII or IX administration
        • indications
          • relevant factor is administered for Hemophilia A (Factor VIII) and B (Factor IX)
          • estabilished bleed with decreased factor VIII and IX or increased Bethesda assay (>5 BU)
        • modalities
          • increase factor levels by risk of potential blood loss and bleeding
            • acute hematomas
              • increase blood factor levels to 30%
            • acute hemarthrosis and soft tissue surgery
              • increase blood factor levels to 40-50%
            • skeletal surgery
              • increase blood factor levels to 100% for first week following surgery then maintain at > 50% for second week following surgery
      • factor VIIa
        • indications
          • acute bleed, compartment syndrome, or surgical intervention in patients with high titers of factor VIII inhibitor
    • Operative treatment
      • synovectomy and/or contracture release
        • indications
          • may be indicated for recurrent bleeding into a specific joint causing:
            • chronic synovitis
            • recurrent hemarthrosis
        • technique
          • radioactive synoviorthesis (destruction of synovial tissue with intra-articular injection of radioactive agent)
          • surgical synovectomy
        • outcomes
          • synoviorthesis has been shown to reduce incidence of recurrence greater than surgical synovectomy
      • total joint arthroplasties
        • indications
          • for end stage arthropathy
  • Prognosis
    • Natural history of diease
      • Disease severity determined by degree of coagulation factor deficiency
        • mild: 5-25%
        • moderate: 1-5%
        • severe: 0-1%
    • Prognostic variables
      • treatment related inhibitors (e.g. Immunoglobulin G antibody inhibitors)
        • IgG antibody to clotting factor proteins
        • inhibits response of therapeutic factor replacement
        • present in 4-20% of hemophillia patients and can develop at any time
        • presence is a relative contraindication for surgery
      • blood borne infections
        • high risk of viral transmission
        • prevalence of HIV in hemophiliacs is approx. 10-15%
      • allergic reaction to infused blood products
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