hemophilia definition: rare bleeding disorders due to inherited deficiencies in co-agulation...
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Hemophilia
Definition: rare bleeding disorders due to inherited deficiencies in co-agulation factors
Types:1. Haemophilia A (Classic) Factor VIII
deficiency2.Haemophilia B (Christmas Disease)
Factor IX deficiency3.Von Willibrands Disease
bleeding disorder with low levels of Factor VIII but also an abnormality of platelet adhesiveness
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 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
: Not affected
: Affected
: Carrier Key
Chad
Gabe Ethan
Family Pedigree:
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
Classification
% normal factor level
Causes of bleeding
Severe < 1% bleeding after trivial injury or spontaneous
Moderate
1 - 5% bleeding after minor injury; occasional spontaneous bleeds
Mild 6 - 30 % following major trauma, surgical or dental procedures
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 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 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
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
Abdomen GI tract Intracranial bleeds Around vital structures in the neck
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
Good news: Increased longevity & decreased
morbidity Improved quality of life
Bad news: HIV infection Hepatitis
Recombinant Products
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
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
Acute Bleeds: Immediate replacement factor Immobilize joint No weight bearing Ice Immediate medical attention if
complications arise
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 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 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