hemophilia n.
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Hemophilia

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Hemophilia

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  1. Hemophilia • Definition: rare bleeding disorders due to inherited deficiencies in co-agulation factors • Types: 1. Haemophilia A (Classic) Factor VIII deficiency 2. Haemophilia B (Christmas Disease) Factor IX deficiency 3. Von Willibrands Disease bleeding disorder with low levels of Factor VIII but also an abnormality of platelet adhesiveness

  2. Hemophilia A & B • clinically similar: • occur in approximately 1 in 5,000 male births • account for 90% of congenital bleeding disorders • Hemophilia A is approximately 5 times more common than B

  3. Etiology • Inherited as a sex linked recessive trait with bleeding manifestations only in males • genes which control factor VIII and IX production are located on the x chromosome; if the gene is defective synthesis of these proteins is defective • female carriers transmit the abnormal gene

  4. Disease Severity • severity is dependent on blood levels of functioning factor VIII or IX • severity varies markedly between families but is relatively constant among family members in successive generations • remains relatively unchanged throughout life

  5. Classification

  6. Clinical Features – Joint Bleeds • Joints (Hemarthrosis) • Knees, ankles and elbows most common sites • begin as the child begins to crawl and walk • many bleeds occur between the ages of 6 and 15 years • Single joint bleed: stiffness, swelling, pain, loose pack position

  7. Sub Acute Hemarthrosis • Develops after repeated bleeds into the joint • Synovium becomes inflamed • Hypertrophy, hyperplasia and increased vascularity of synovial membrane • Hemosiderosis: hemoglobin of intra articular blood is degraded and iron deposited into the joint space

  8. Chronic Arthropathy • Progressive destruction of a joint • Pannus (inflammed synovium), & enzymes begin to destroy articular cartilage • Microfracture and cyst formation in subchondral bone • End stage: firbrous joint contracture, and disorganization of articular surfaces

  9. Clinical Features – Muscle Bleeds • Bleeding into muscle or soft tissue • Less tendency to recurrent bleeds • Sites: iliopsoas, calf, upper arm and forearm, thigh, shoulder area, buttock • Symptoms: pain, swelling, muscle spasm • Complications: nerve compression, contracture

  10. Other Sites of Hemorrhage • Abdomen • GI tract • Intracranial bleeds • Around vital structures in the neck

  11. Management • Early replacement of missing clotting factor • Historically: • Fresh whole blood (prior to 1950) • Plasma products (1950 – 1964) • Cryoprecipitate (1964) • Concentrates (early 1970’s)

  12. Concentrates • Good news: • Increased longevity & decreased morbidity • Improved quality of life • Bad news: • HIV infection • Hepatitis • Recombinant Products

  13. In Canada • approximately 35% of hemophiliacs were infected with HIV • approximately 90% of hemophiliacs with severe hemophilia A and 40% of hemophiliacs with severe hemophilia B were infected with HIV • by 1998 approximately 350 people, half of those infected, had died • approximately 70% of hemophiliacs were infected with hepatitis C

  14. Other Medical Treatment • Analgesics (no aspirin) • Anti-inflammatory medications • Good dental care • Education – life long management • Psychological counseling • Acute and long term management of musculoskeletal problems

  15. Musculoskeletal Management • Acute Bleeds: • Immediate replacement factor • Immobilize joint • No weight bearing • Ice • Immediate medical attention if complications arise

  16. Musculoskeletal Management • After 24 hours: • Continue minimal or no weight bearing for lower extremity bleed • Active range of motion; gentle stretching • Corrective positioning (splinting ??) • Isometric strengthening; progress to isotonic • Continue use of ice • Hydrotherapy if available

  17. Musculoskeletal Management • Long term: • Repeated musculoskeletal examination (annual or biannual) • Measurement of leg length, girth, ROM, strength, gait, function • Physiotherapy treatment: based on assessment findings • Prophylactic factor replacement prior to treatment

  18. Education of Patient and Family • Importance of early factor replacement • Use of helmet when riding tricycle/bicycle • Sports: contact sports discouraged for severe hemophiliacs; swimming, cross country skiing, tennis, golf, baseball, bicycling – generally considered safe • Footwear