Dr/ Hytham Dr/ Hytham NafadyNafady

HemophiliHemophiliaa

HemophiliaX-linked recessive disorder characterized by deficiency of

coagulation factor.

Hemophilia

Hemophilia AHemophilia B

(Chrismas disease)

Deficiency of coagulation factor

VIII

Deficiency of coagulation factor

IX

X linked recessive

Males ♂ Female ♀

Patient Carrier

Queen Victoria

The Romanovs Russia’s last royal family

Hemophilia = Royal disease

Bleeding:Intraarticular,Intramuscular,Intraosseous, Subperiosteal.

Life threatening hemorrhage:Intracranial.Throacic.Abdominal.

Hemophilia

Hemophilic arthropathy

Hemophilic pseudotumor

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

Hemophilic arthropathyDemographics:Age: 1st or 2nd decade.Sex: it is a disease of males.

Hemophilic arthropathy

Clinical presentation:

3 types of arthropathy

Acute arthropathy Red hot tender joint swelling.Fever Leukocystosis.

DDx: septic arthritis

Subacute arthropathySubacute arthropathyLimitation of joint motion & muscle

wasting

Chronic arthropathyChronic arthropathySever joint contracture.DDx: juvenile rheumatoid arthritis.

Hemophilic arthropathyHemophilic arthropathyLocation:Knee elbow ankle hip shoulder.Distribution:Unilateral or bilateral asymmetrical (DDx

with JRA).

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.

MRIMRILow signal intensity of the hypertrophied

synovium on all pulse sequences due to siderotic synoviitis.

Knee Knee 16 +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.

ElbowElbow 16 +Widening of the trochlear & ulnar notches.Enlargement of the radial head.

Dense joint effusion Dense joint effusion (sail sign)

AnkleAnkle 16 +Talar tilt: medial slanting of the

tibiotalar joint with alteration of ankle mortise.

MRIMRI1. 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.

Complications of hemophilic Complications of hemophilic arthropathy:arthropathy:

1. Premature 2ry osteoarthritis.2. Premature fusion of the epiphysis with

limb shortening.3. Avascular bone necrosis.4. Septic arthritis.

DD of hemophiliaJRANeuromuscular disorders.

Neuromuscular disordres

immobilization

Synovial atrophy Vascular stasis

Epiphyseal enlargement

Decreased cartilage nutrition

Paraplegia Paraplegia

Poliomyelitis

Hemophilic pseudotumorHemophilic pseudotumorRepeated intramusular, subperiosteal or

intraosseous hemorrhage.

Pathology: Subperiosteal hemorrhage destruction of

the underlying cortex & medulla & elevation of the overlying periosteum.

Intraosseous hemorrhage intraosseous lytic lesion.

Location:Iliac wings.Femoral diaphysis.Calcaneus.

Special Case Female patient with

Turner syndrome (XO)Inherited hemophilia B

from her father.X ray ankle shows talar

tilt.

Bleeding into kidney

Intracranial hemorrhageIntracranial hemorrhage1/3 of deaths.