Haemophillia

Dr. Sadia Iftikhar

Introduction to Hemophilia

• Two chromosomes determine the sex of an individual, X and Y.

• Female XX
• Male XY
 Introduction to Hemophilia

• Daughter of haemophiliac will inherit her X and be carrier.

• Sons of a haemophiliac will not be affected as they inherit fathers
Y chromosome which does not carry FVIII or FIX gene.
 Chances carrier mother passing defective gene to a
child are 50:50.
 Each daughter has 50:50 chance being a carrier
 Each son has 50:50 chance of having Haemophilia.
 Introduction to Hemophilia

In some 30% cases of haemophilia there is no known family history

Haemophilia is probably the result of spontaneous genetic mutation in these families.
 Background:
 Haemophilia is an X-linked bleeding
disorder affecting ~ 1 in 7000 males.
 Haemophilia A is Factor VIII (8)
deficiency.
 Haemophilia B is Factor IX (9) deficiency.
 Clinical characteristics of Haemophilia
A and B
Severity Concentration of Typical Bleeding Picture
Clotting Factor
(%)
severe <1 Frequent bleeding episodes
common, predominantly
into joints & muscles.
Bleeding can occur
spontaneously or after
minor injury.
moderate 1-5 Can bleed after minor
injury. May have joint
bleeding. Severe bleeding
with trauma, surgery,
invasive procedures.
mild >5-40 Bleeding with major
trauma, surgery, invasive
procedures.
Musculoskeletal Complications
In Hemophilia
 I-Haemarthrosis

 Physiological
Factors
 Synovium rich in blood
 Lack of coagulation
activity in blood
 Only traces of
thromboplastin in
synovium
 I-Haemarthrosis
 Mechanical Factors
 Bleeding in hinge joints common
 No muscle control for rotatory
components of hinge joints
 Synovium membrane arranged in
pouches and recesses & can be easily
entrapped in joints
 I-Haemarthrosis
 Clinical Features Treatment
 Funny feeling within joints  Replacement
Factor
 Pain  Immobilization

 Swelling  cryotherapy

 Warmth
 Joint is placed in Loose Packed Position
i.e. resting position to gain maximum
laxity of ligaments
 Chronic Synovitis
 Clinical Features
 Swelling-joint distension
 No pain
 Some atrophy of muscles
 Slight restriction of the movement
 Enlargement of bony ends
 II-Chronic Synovitis
 Pathology
 Bleeding in joint----broken
red cells in joint---synovium
laden with iron----stimulus
for synovium
proliferation----hypertrophy
of synovium----proteolytic
enzymes damage
cartilage----chronic
synovitis.
 II-Chronic Synovitis
 Confirmatory Diagnostic Features of
Chronic Synovitis
 Chronic swelling for more than 3 months
 No response i.e. there is no reduction of
swelling after giving appropriate factor.
 Muscle wasting around the joint
 Increased frequency of bleeding episode
 II-Chronic Synovitis
 X-Rays
 Joint distension
 Increased density of capsular tissue
 Epiphyseal overgrowth
 Premature appearance of ossification
 II-Chronic Synovitis
 MRI Shows
 Synovial hypertrophy
 Cartilage defect
 Fluid in joints
 II-Chronic Synovitis
 Ultrasound Investigation
 Thickness of synovium

Note:
Physical amassment is important as
 Girth measurement

 Swelling of joint

 Range of motion

 Muscle strength
 II-Chronic Synovitis
 Treatment
 Substitution therapy
 Extensive physiotherapy
 synovectomy
 III -Haemophilia Arthropathy
 Pathology
 High pressure within joints---
compression of vessels---
ischemia of subchondral bone &
synovium---then collapse---
blood mixed in synovial fluid---
hampers cartilage nutrition---
iron in synovial tissue---tissue
become initially Hyperplastic &
then fibrotic.
III -Haemophilia Arthropathy
 Clinical Features
 Pain in Haemophilic
arthropathy is caused due
to
 Increased pressure
 Friction
 Bad lubrication
 Deterioration of joint
cartilage n synovium
 Reduction range of motion
 Reduction in strength
 Muscle wasting
 Angulation, Deformities n Contracture
 Alteration in gait pattern
 Reduced functional abilities
 III -Haemophilia Arthropathy
 Radiological Features
 Increased density of soft tissue
 Osteoporosis
 Overgrowth of epiphysis
 Premature epiphyseal closure
 Irregularity in subchondral bone
 Narrow space
 Sclerosis
 Joint deformities
Involvement of joints in
Haemophilia
Involvement of joints in Haemophilia
 Knee Joint
 Flexion/extension limited
 Patellar movement limited
 Quadriceps weak n atrophy
 Flexion contractures
 Deformities
Knee Contractures
 Deformities of Knee
 Dorsal subluxation
of tibia
 Valgus deformity
 Exaggerated
outward rotation of
tibia
 Subluxation of
Patella
 Leg length
discrepancy
 Elbow Joint
 Restricted flexion and extension
 Restricted supination pronation
 Arm & forearm muscle atrophy
 Muscle weakness
 X-ray
 Deformation of radial hand hypertrophy
Wrist & Hand
 Ankle Joint
 Restricted dorsiflexion
and plantaflexion
 Pronation &
supination at
transverse tarsal
joints less affected
 Loss of dorsiflexion---
compensated by
hyper-extension of
knee
 Hip Joint
 Pain in joint
 Reduction in ROM
 Weakness of thigh muscles
 Flexion contracture of hip
 X-ray
 Enlargement of femoral head
 Subluxation or dislocation
 Shoulder Joint
 Pain
 Muscle weakness
 Arm muscle atrophy
 Reduced ROM
 Growth disturbance
 Functional disability
Physiotherapy Assessment
in Haemophilia
 Assessment-----Biographic Data
 Name for rapport
 Age children more prone to traumatic bleeds
 Sex x-linked, Males are affected
 Address for rehab & prevent bleeds
 Occupation Have to find light jobs
 Chief Complaints
 Pain

 Swelling

 Limitation of ROM

 Difficulties in ADL's

 Diagnosis
 Hemophilia A or B

 Severity mild, moderate or severe

 Inhibitors---clotting factor inhibitors

Diagnosis
Hemophilia
Severity mild,
moderate or
severe
Inhibitors---
clotting factor
inhibitors
 Assessment---History
 Age of onset of bleeding
 Normally first bleeding at crawl or walk

 Site of bleeding
 Bleeding
 Spontaneous Yes / No
 Trauma related Yes / No
 Frequency of bleeding
 Past Present

 1-5 times/year
 6-10 times/year
 11-15 times/year
 16-20 times/year
 >20 times/year
 Assessment---History
 Family History
 Personal History
 Operative Notes
 On Examination
Assessment-----On Observation
Acute Bleed
 Color of skin
 Swelling
 Attitude of limb
 Wasting
 Contracture & deformity
 Posture
 Gait
 Note: last 3 are not supposed to check in
active bleed
 Assessment-----On Palpation
Acute Bleed
 Skin temperature
 Measuring Swelling
 Range of Motion
 Muscle Strength
 Assessment-----On Observation
Sub Acute Stage & Chronic Stage
 Color Of Skin
 Swelling
 Wasting
 Attitude
 Contracture & Deformity
 Limb Length Measurement
 Posture
 Gait
 Functional Activity
 Assessment-----On Palpation
Sub Acute Stage & Chronic Stage
 Swelling
 Limb Girth and Length Measurement
 ROM
 Muscle Strength
 Measurement of Contracture & Deformity
 Balance
 Co-Ordination
 Exercise Tolerance Test
 Need for Assistive Devices
Management in
Hemophilia
 Aims of Treatment
 Pain relief
 To improve ROM
 To prevent muscle atrophy
 To improve muscle power
 To improve functional abilities
 To reduce frequency of bleeding
episode
 Hence reducing requirement of factor
Physiotherapy in Acute Bleed
P R I C E
Rest
24hrs immobilization for miner bleeds
Immobilization till pain improve for major bleeds
Immobilization by back slab or POP
Splint Absolute joint
Ice
To reduce blood flow, to increase viscosity of
blood to concentrate factor, reduction of pain,
reduction of spasm
Compression
Elastocrepe bandage
Elevation
Lymphatic drainage
Reduce swelling
Physiotherapy in Haemarthrosis
Pain relief
Ice
Pulsed Ultrasound
Prevention of muscle atrophy
Static Muscle Contraction
Terminal extension exercises
To improve ROM
Active assisted exercises
Free exercises
To improve muscle strength
Resisted Isometrics
Resisted concentric & eccentric exercises
Strengthening exercise to non involved joints
Posture & Gait
Functional Activities
Treatment of Hemophilic Arthropathy
Replacement of factor
RICE
Physiotherapy
Pain relief
Pulsed Ultrasound
Interferential Therapy
TENS
Joint traction
C.P.M.
Static contraction of muscle
Active assisted exercises
Free exercises
Mobilization of joint
Convex concave rule
 Treatment of Haemophilic
Arthropathy
 Strengthening of weak muscles & strengthening of non-
involved extremities
 Stretching
 Stability exercises by;
 Weights

 Weights & Pulley

 Dynamic Splint

 Serial Casts

 Posture & Gait

 Functional abilities
Management in Hemophilia
Management in Hemophilia
Management in Hemophilia
Thank You