Hemophilia

Hemophilia bleeding disorders due to inherited deficiencies in coagulation factors Types: 1. Haemophilia A (Classic) Factor VIII deficiency 2. Haemophilia B (Christmas Disease) Factor IX deficiency

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 A disease of males

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 - 20 % following major trauma, surgical or dental procedures

Diagnosis Atypical bleeding at circumcision or bruising at neonatal vaccines Toddlers with lip bleeding or unusual bruising when learning to walk Hx of affected males on mother’s side Elevated PTT Factor assays

Clinical Features – Joint Bleeds Joints (Hemarthrosis) Knees, ankles and elbows most common sites begin as the child begins to crawl and walk Single joint bleed: stiffness, swelling, pain With repeated bleeding into same jt---arthropathy-> stiffness and contractures

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 Sites: iliopsoas, calf Symptoms: pain, swelling, muscle spasm Complications: nerve compression, contracture

Other Sites of Hemorrhage Abdomen GI tract Intracranial bleeds Around vital structures in the neck Can cause death…

They have high risk of HIV,Hep B and Hep C due to repeated transfusion of blood products

Management Specific Hemophillia A Fac viii preparations Cryo DDAVP Hemophillia B Fac ix CPP

General Avoid NSAIDs Avoid contact sports Avoid IM injections Good dental care Education – life long management Acute and long term management of musculoskeletal problems

Musculoskeletal Management Acute Bleeds: Immediate replacement of factor Immobilize joint No weight bearing Ice Analgesics Once acute condition resolves gradually resume exercises -PT

Musculoskeletal Management After 24 hours: Continue minimal or no weight bearing for lower extremity bleed Active range of motion; gentle stretching Isometric strengthening; progress to isotonic Continue use of ice Hydrotherapy if available

Thank you…