Transcript Hemophilia - Mike Poullis - Consultant Cardiothoracic Surgeon

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
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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
Etiology
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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
Disease Severity
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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
Severe
% normal
factor level
< 1%
Moderate
1 - 5%
Mild
6 - 30 %
Causes of bleeding
bleeding after trivial
injury or spontaneous
bleeding after minor
injury; occasional
spontaneous bleeds
following major trauma,
surgical or dental
procedures
Clinical Features – Joint Bleeds
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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
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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
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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
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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
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Abdomen
GI tract
Intracranial bleeds
Around vital structures in the neck
Management
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Early replacement of missing clotting
factor
Historically:
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Fresh whole blood (prior to 1950)
Plasma products (1950 – 1964)
Cryoprecipitate (1964)
Concentrates (early 1970’s)
Concentrates
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Good news:
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Bad news:
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Increased longevity & decreased morbidity
Improved quality of life
HIV infection
Hepatitis
Recombinant Products
In Canada
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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
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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
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Acute Bleeds:
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Immediate replacement factor
Immobilize joint
No weight bearing
Ice
Immediate medical attention if
complications arise
Musculoskeletal Management
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After 24 hours:
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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
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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
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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