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