Hemophilia f > 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4 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 Causes of bleeding factor level 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4 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4 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4 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Normal Joint Arthritic Joint Ty —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4 Other Sites of Hemorrhage » Abdomen > GI tract > Intracranial bleeds > Around vital structures in the neckzt Management » Early replacement of missing clotting factor > Historically: - Fresh whole blood (prior to 1950) » Plasma products (1950 — 1964) « Cryoprecipitate (1964) - Concentrates (early 1970's)zt Concentrates » Good news: » Increased longevity & decreased morbidity - Improved quality of life > Bad news: - HIV infection » Hepatitis » Recombinant ProductsIn Canada > v v 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zt 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zt 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 4 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