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Hemophilia

Hemophilia. What is Hemophilia?. Hemophilia is an inherited bleeding disorder in which there is a deficiency or lack of factor VIII or factor IX clotting factor proteins . www.hemoalliance.org. Hereditary Bleeding Disorders. Hemophilia A - absence or deficiency of FVIII

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Hemophilia

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  1. Hemophilia 2008

  2. What is Hemophilia? Hemophilia is an inherited bleeding disorder in which there is a deficiency or lack of factor VIII or factor IX clotting factor proteins 2008 www.hemoalliance.org

  3. Hereditary Bleeding Disorders • Hemophilia A - absence or deficiency of FVIII • Hemophilia B - absence or deficiency of FIX • Von Willebrand - vWF is missing or faulty 2008 www.hemoalliance.org

  4. Incidence of Hemophilia • One in 5,000-7,500 live male births • Affects 20,000 in the U.S. • 30% spontaneous mutation • All races and socioeconomic groups are equally affected 2008 www.hemoalliance.org

  5. Clinical Severity of Hemophilia Clinical Fraction of Coagulation Bleeding Severity Hemophilia Factor Tendency Cases Activity ------------------------------------------------------------------------------------------ Severe 60% 0-1% Spontaneous without trauma Moderate 15% 1-5% With mild trauma Mild 25% 5-25% With significant trauma or surgery Normal 50-150% 2008 www.hemoalliance.org

  6. Bleeding Episodes • Common Hemorrhages • soft tissue • muscle, joint • Life Threatening Hemorrhages • head / intracranial • neck abdominal / GI 2008 www.hemoalliance.org

  7. Complications of hemophilia • Joint destruction chronic pain, joint arthritis / arthropathy, muscle atrophy • Inhibitor development • Exposure to plasma viruses 2008 www.hemoalliance.org

  8. JOINT BLEEDING IN HEMOPHILIA 2008 www.hemoalliance.org

  9. Treatment Methods • Prophylaxis -- ⇩ bleeding episodes • Enhanced infusion protocol - ⇩ effects of bleeding • “On demand” therapy – treat each bleed episode 2008 www.hemoalliance.org

  10. Lyophilized Factor VIII produced by recombinant technology 2008 www.hemoalliance.org

  11. Radiographic Hemophilia Arthropathy 2008 www.hemoalliance.org

  12. Inhibitor • Circulating antibody to factor VIII or IX • Affects 8-20% of severe fVIII patients • Affects 1-3% of FIX • Treatment • increase factor • bypass antibodies • immune intolerance 2008 www.hemoalliance.org

  13. Therapies for Hemophilia patients with Inhibitors • Adequate factor VIII to overwhelm the inhibitor and maintain an adequate factor VIII level • Porcine factor VIII • Designer human-porcine hybrid FVIII molecules • rFVIIa (NovoSeven) • FEIBA • Plasmapheresis 2008 www.hemoalliance.org

  14. Long-term outcome of recurrent hemarthroses: bony overgrowth, joint fusion, muscle atrophy 2008 www.hemoalliance.org

  15. Joint Outcome In Persons With Severe Factor VIII DeficiencyAledort LM et al: J Int Med 1994;236:391-9.(% of patients with each # of abnormal joints at ages 6-31 yrs) 2008 www.hemoalliance.org

  16. Prevention of Joint Disease in Hemophilia • Early treatment of joint hemorrhages • Arrest of synovitis: surgical removal, radiosynoviorthesis • Use of higher doses, multiple infusions • Prevention of bleeding with routine replacement of factor VIII on a regular schedule 2008 www.hemoalliance.org

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