1. Hemophilia

3. 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

4. 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

5. 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

7. 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 %
following major trauma, surgical or dental procedures

8. 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

9. 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

10. 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

11. 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

13. Clinical Features – Muscle Bleeds
Bleeding into muscle or soft tissue
Sites: iliopsoas, calf
Symptoms: pain, swelling, muscle spasm
Complications: nerve compression, contracture

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

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

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

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

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

19. 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

20. Thank you…