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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
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

hemophilia a b
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
etiology
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
disease severity
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
clinical features joint bleeds
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
sub acute hemarthrosis
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
chronic arthropathy
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
clinical features muscle bleeds
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
other sites of hemorrhage
Other Sites of Hemorrhage
  • Abdomen
  • GI tract
  • Intracranial bleeds
  • Around vital structures in the neck
management
Management
  • Early replacement of missing clotting factor
  • Historically:
    • Fresh whole blood (prior to 1950)
    • Plasma products (1950 – 1964)
    • Cryoprecipitate (1964)
    • Concentrates (early 1970’s)
concentrates
Concentrates
  • Good news:
    • Increased longevity & decreased morbidity
    • Improved quality of life
  • Bad news:
    • HIV infection
    • Hepatitis
  • Recombinant Products
in canada
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
other medical treatment
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
musculoskeletal management
Musculoskeletal Management
  • Acute Bleeds:
    • Immediate replacement factor
    • Immobilize joint
    • No weight bearing
    • Ice
    • Immediate medical attention if complications arise
musculoskeletal management17
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
musculoskeletal management18
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
education of patient and family
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
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