1. Dr/ Hytham NafadyDr/ Hytham Nafady
HemophiliaHemophilia

2. Hemophilia
X-linked recessive disorder characterized by deficiency of
coagulation factor.
Hemophilia
Hemophilia A
Hemophilia B
(Chrismas disease)
Deficiency of
coagulation factor
VIII
Deficiency of
coagulation factor
IX

3. X linked recessive
Males ♂ Female ♀
Patient Carrier

4. Queen Victoria

5. The Romanovs
Russia’s last royal family
Hemophilia = Royal disease

6. Bleeding:
Intraarticular,
Intramuscular,
Intraosseous,
Subperiosteal.
Life threatening hemorrhage:
Intracranial.
Throacic.
Abdominal.

7. Hemophilia
Hemophilic
arthropathy
Hemophilic
pseudotumor

8. Hemophilic arthropathy
Etiology:
Repeated hemarthrosis.
Pathology:
Repeated hemarthrosis 
chronic synoviitis, synovial hemo-siderosis 
synovial proliferation & pannus formation 
cartilage destruction 
bone erosions and subcortical cysts.

9. Hemophilic arthropathy
Demographics:
Age: 1st or 2nd decade.
Sex: it is a disease of males.

10. Hemophilic arthropathy
Clinical presentation:
3 types of arthropathy

11. Acute arthropathy
Red
hot
tender
joint swelling.
Fever
Leukocystosis.
DDx: septic arthritis

12. Subacute arthropathySubacute arthropathy
Limitation of joint motion & muscle wasting

13. Chronic arthropathyChronic arthropathy
Sever joint contracture.
DDx: juvenile rheumatoid arthritis.

14. Hemophilic arthropathyHemophilic arthropathy
Location:
Knee  elbow  ankle  hip  shoulder.
Distribution:
Unilateral or bilateral asymmetrical (DDx with JRA).

15. Radiological manifestiation of
hemophilic arthropathy
Dense joint effusion Hemoarthrosis
Juxta-articular osteoporosis. Hyperemia of the
epiphysis
Enlargement of the epiphysis Hyperemia of the
epiphysis
Diffuse narrowing of the joint
space
Cartilage destruction
Irregular articular surfaces Bone erosion
Subchondral sclerosis, cystic
changes and marginal
osteophytic lipping.
Premature 2ry
osteoarthritis.

16. MRIMRI
Low signal intensity of the hypertrophied synovium on all
pulse sequences due to siderotic synoviitis.

17. KneeKnee
16 +
Bulbous femoral condyles with flattened inferior surface.
Slanting of the tibial plateau.
Widening of the intercondylar notch (due to repeated
hemorrhage in the attachments of the cruciate ligaments).
Squaring of the lower pole of the patella.

21. ElbowElbow
16 +
Widening of the trochlear & ulnar notches.
Enlargement of the radial head.

22. Dense joint effusionDense joint effusion (sail sign)

25. AnkleAnkle
16 +
Talar tilt: medial slanting of the tibiotalar joint with
alteration of ankle mortise.

28. MRIMRI
1. Hemorrhagic joint effusion.
2. Synovial hemosiderin deposition (low signal intensity on
all pulse sequences with blooming artifact on gradient
echo images).
3. Destruction of the articular surface.
4. Bone marrow edema of the epiphysis.

30. Complications of hemophilicComplications of hemophilic
arthropathy:arthropathy:
1. Premature 2ry osteoarthritis.
2. Premature fusion of the epiphysis with limb shortening.
3. Avascular bone necrosis.
4. Septic arthritis.

31. DD of hemophilia
JRA
Neuromuscular disorders.
Neuromuscular disordres
immobilization
Synovial atrophy Vascular stasis
Epiphyseal
enlargement
Decreased
cartilage nutrition

32. ParaplegiaParaplegia

33. Poliomyelitis

34. Hemophilic pseudotumorHemophilic pseudotumor
Repeated intramusular, subperiosteal or intraosseous
hemorrhage.

35. Pathology:
Subperiosteal hemorrhage  destruction of the underlying
cortex & medulla & elevation of the overlying periosteum.
Intraosseous hemorrhage  intraosseous lytic lesion.

36. Location:
Iliac wings.
Femoral diaphysis.
Calcaneus.

39. Special Case
Female patient with Turner
syndrome (XO)
Inherited hemophilia B from her
father.
X ray ankle shows talar tilt.

40. Bleeding into kidney

41. Intracranial hemorrhageIntracranial hemorrhage
1/3 of deaths.