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  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 Moderate1 - 5%bleeding after minor injury; occasional spontaneous bleeds Mild %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