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Hemophilia - PowerPoint PPT Presentation

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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

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Hemophilia l.jpg

  • 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

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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

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  • 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

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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

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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

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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

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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

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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

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Other Sites of Hemorrhage

  • Abdomen

  • GI tract

  • Intracranial bleeds

  • Around vital structures in the neck

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  • Early replacement of missing clotting factor

  • Historically:

    • Fresh whole blood (prior to 1950)

    • Plasma products (1950 – 1964)

    • Cryoprecipitate (1964)

    • Concentrates (early 1970’s)

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  • Good news:

    • Increased longevity & decreased morbidity

    • Improved quality of life

  • Bad news:

    • HIV infection

    • Hepatitis

  • Recombinant Products

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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

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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

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Musculoskeletal Management

  • Acute Bleeds:

    • Immediate replacement factor

    • Immobilize joint

    • No weight bearing

    • Ice

    • Immediate medical attention if complications arise

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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

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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

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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