Updated: 10/9/2022


Review Topic
  • 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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(SAE07PE.56) What is the primary indication for performing an arthroscopic synovectomy on a patient with hemophilia that is the result of factor VIII deficiency?

QID: 6116

Joint pain with radiographic evidence of joint space narrowing



Joint stiffness that has not improved with physiotherapy and bracing



Recurrent joint bleeding despite optimal medical management



Prophylaxis for joint preservation in severe hemophilia (factor VIII level <1%)



Decreasing ambulatory endurance despite optimal medical management




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(SBQ04PE.81) A 9-year-old male with hemophilia A presents with severe groin pain, parasthesias over the medial aspect of the distal tibia, and difficulty ambulating several hours after a soccer game. He is believed to have an intramuscular hematoma surrounding the iliacus muscle. Which nerve is MOST likely to be compressed?

QID: 2266
















L 1 D

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