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