HEMOPHILIA

1
HEMOPHILIA

• John OSullivan
• 24 May 2001

2
Outline

• Definition
• Epidemiology
• Diagnosis
• Factor Replacement
• Hemophilic Arthropathy
• Treatment
• Other Topics

3
Hemophilia

• Disorder of hemostasis, a coagulopathy
• Hemophilia A - Factor VIII deficiency
• Hemophilia B Factor IX deficiency
• Prevalence 13.4 cases per 100,000 males
• Incidence 1 in 5032 live male births

4
(No Transcript)
5
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 mothers side
• Elevated PTT
• Factor assays

6
Factor Deficiencies

• Severe lt1
• Hemarthrosis with minimal trauma or ADLs
• Moderate 1 to 5
• Intermediate symptoms with fewer hemarthroses
• Mild gt5
• Joint bleeds rarely develop except with
  significant trauma

7
Factor Replacement

• For routine muscle or joint bleed give 25 U/kg to
  maintain levels gt1 for 48 hours
• Preoperatively
• Screen for inhibitors
• Elevate F VIII levels to gt100 1 hr preop
• Maintain at 60
• If vigorous PT required, transfuse to 50
  pretreatment

8
Preoperative Evaluation

• Accurate diagnosis
• Accurate quantification
• Adequate reserves of factor
• Lab must be able to perform assays
• HIV, Hepatitis status

9
Hemophilic Arthropathy

• As blood is catabolized, it is absorbed by
  synovium
• Iron is toxic to cells synovial cells
  disintegrate releasing lysosomes which destroy
  cartilage and inflame synovium
• Hypertrophic, hypervascular synovium
• Chondrocytes also affected
• FIBROSIS

10
(No Transcript)
11
Radiographic Changes

• Like RA
• Soft tissue swelling
• Osteopenia
• Overgrowth of epiphysis
• Erosions
• Cysts

12
(No Transcript)
13
(No Transcript)
14
(No Transcript)
15
Treatment

• Prophylactic transfusions must be started at age
  2 to 3
• Need central access
• Risk of bacteremia
• Costly
• Aspiration lowers blood load

16
Treatment

• Arthroscopic synovectomy
• Radiosynovectomy
• 32P chromic phosphate
• 75 good to excellent results

17
Knee

• Arthroscopic synovectomy
• Open debridement
• TKA
• Arthrodesis

18

• ELBOW
• Open synovectomy with excision of radial head
• Contraindicated in children
• ANKLE and SUBTALAR JOINT
• Arthrodesis

19
Hip

• Two modes of onset
• Rapid progression due to increased intracapsular
  pressure
• Chronic synovitis
• THA
• 33 aseptic failure rate

20
Shoulder

• Abandoned open synovectomy
• Arthroscopy limited
• Arthrodesis
• Arthroplasty

21
Other Topics

• Muscle bleeds
• Pseudotumor
• HIV

22
(No Transcript)
23
(No Transcript)
24
(No Transcript)