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Haemophilia

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Hemophilia from Harrison

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Haemophilia

  1. 1. What is Haemophilia?  Haemophilia is an x-linked recessive hemorrhagic disease.  There are two main types of Haemophilia:  Haemophilia A or classic Haemophilia that represnts 80% of cases and it's due to mutation in F8 gene that affects FVIII.  Haemophilia B or Christmas disease which mutation happens in F9 gene which affects FIX.  The disease affects 1 in 10,000 males in all ethnics.
  2. 2. TYPE A TYPE B
  3. 3. CLASSIFICATION OF HAEMOPHILIA CLASSIFICATION LEVEL OF FACTOR VIII OR IX IN THE BLOOD SEVERE less than 1% of normal MODERATE 1% to 5% of normal MILD 5% to 30% of normal
  4. 4. CLINICAL MANIFESTATION  In the severe or moderate forms is characterized by bleeding into the joints(hemarthrosis), soft tissue, and muscles after minor trauma or even spontaneously.  In mild forms patient experience infrequent bleedings which usually secondary to trauma.  In those with residual FVIII or FIX >25% the disease discovered only bleeding after major trauma or laboratory tests.
  5. 5.  In early life, bleeding may present by circumcise and more evident when children begin to crawl or walk.  in severe cases the most frequent manifestation is recurrent hemarthroses which mainly affects knee, ankle, hips, shoulder and elbow, recurrent bleeding can cause "target joint" resulting in progressive joint deformity.  hematomas in muscles of limbs can cause compartment syndrome.  Bleeding into oropharyngeal spaces and CNS and retroperitoneal are life threatening and requires immediate therapy.  hematuria is frequent and mostly is self-limited.
  6. 6. TREATMENT 1. Factor replacement therapy:  1.Response to a bleeding episode  2.Prophylactic therapy(maintain factors >1%)  Mostly severe forms and younger than 6  Haemophilic boys that receive infusions of VIII (3days/week) or IX (2days/week) can reach puberty without detectible joint deformity  FVIII(100ng/ml) or FIX(5 µg/ml) is 1IU  1IU/kg of FVIII can increase 2% of its plasma level  FVIII (IU)= (Target FVIII – FVIII Baselines)×BW×0.5unit/kg
  7. 7. TREATMENT  1IU/kg of FIX increases 1% of its plasma level  FIX (IU)= (Target FIX- baselines FIX)×BW×1unit/kg  Exp: dose of FVIII needed to increase plasma level to 100% in 70kg person with severe haemophilia : (100-1)×70×0.5=3500IU  Half lifes: FVIII 8-12h / FIX 24h  FFP: in a 70 kg person 1 Unit Plasma increases most factors ~2.5%
  8. 8. TREATMENT  Nontransfusion therapy:  DDAVP(1-amino-8-D-arginine Vasopressin):  Can cause transient rise in FVIII and VWF but not FIX  Dose not increase FVIII level in severe haemophilia  Antifibrinolytic Drugs:  EACA(ε-amino caproic acid)  Tranexamic acid  Uses in gum and gastrointestinal bleedings and oral surgeries
  9. 9. Inhibitor formation  The formation of alloantibodies to FVIII or FIX is currently the major complication.  Usually appears early in life median 2 years old.  In these patients a 1:1 mix with normal plasma, aPTT is abnormally prolonged.  The results expressed in Bethesda Unit(1 BU is amount of antibody that neutralizes 50% of FVIII or FXI which presents in normal plasma after 2h incubation 37°C)  BU<5 50-100U/kg FVIII or FIX  BU>10 can use PCC(prothrombin,VII,IX,X)
  10. 10. Infectious Disease & Aging  HCV is the major cause of morbidity and second cause of mortality in patients exposed to older clotting factors.  Co-infection of HCV and HIV present almost 50% of haemophilic patients.  Elderly patients have higher rate of severe arthrophaty, HCV and HIV infections and malignancies related to HIV&HCV like HCC.  Mortality from coronary artery disease is lower in haemophilic patients due to hypocoagulability;however it does not prevent athrogenesis.  Hypertension and chronic renal disease are common
  11. 11. Thank you for your Time Extern: Omid.s.Orangi

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