PMR PG Teaching

1. HAEMOPHILIA
ANKIT SODANI
SR-PM&R, LHMC

2. • Coagulation disorders represent disruption of the body's
ability to control bleeding
• Genetic deficiencies of plasma coagulation factors - life-
long recurrent bleeding episodes
• Von Willebrand disease (VWD) - most common type of
bleeding disorder
• Most common inherited factor deficiencies - Hemophilias

3. • Deficiency of factor VIII (hemophilia A) or factor IX
(hemophilia B) – XR (1/3 cases – spontaneous mutation)
• Annual incidence 1/5000 & 1/30000, male births of hemophilia
A & B
• FII, FV, FVII, FX, FXI, FXIII, and fibrinogen –AR
• Hemophilics do not bleed any faster, but for a longer time
• 500 different mutations identified in F8 or F9 genes
• Inversion of intron 22 sequence, MC mutation
• Present in 40% of cases of severe hemophilia A

4. DIAGNOSIS
 Suspected in
patients
presenting with
history of
◦ Easy bruising in
early child hood
◦ Spontaneous
bleeds
◦ Excessive
bleeding
following trauma
or surgery

5. Possible
diagnosis
PT aPTT BT Platelet
count
Normal N N N N
Haemophila
A/B
N Inc N N
VWD N N or Inc N or Inc N or Dec
Platelet defect N N N or Inc N or Dec
DIAGNOSIS
Screening
test
Definitive
diagnosis
Factor assay
Severity Factor level Bleeding episode
Severe < 1 IU/dl (< 0.01 IU/ml)
or
< 1 % of normal
Spontaneous bleeding in
muscles and joints
Moderate 1-5 IU/dl (0.01-0.05
IU/ml) or
1-5% of normal
Occasional spontaneous
bleeding
Mild 5-40 IU/dl (0.05-0.40
IU/ml) or
5-<40% of normal
spontaneous bleeding rare,
severe bleed with major
trauma

6. Mother is a carrier Father has hemophilia
Mother is a carrier AND
Father has hemophilia

7. Hemarthosis 70 - 80%
Muscle 10-20%
CNS bleed < 5 %
GI, CNS, Neck & throat
bleeds are potentially life
threatening

8. ACUTE HEMARTHROSES
• Generally first occur when child begins to walk
• Continue, usually cyclically, into adulthood, when frequency diminishes
• Intense pain due to rapid joint capsule distension
• Accompanied by objective clinical findings of
• Warmth
• Tense effusion
• Tenderness
• Limitation of motion
• Joint often held in flexed position

9. ACUTE HEMARTHROSES
• Joint pain responds rapidly to replacement
of deficient clotting factor
• Hemostasis
• achieved early
• full joint function may be regained
within 12 to 24 hours
• Hemorrhage - more advanced
• blood is resorbed slowly over 5 to 7
days
• full joint function is regained within 10
to 14 days

10. Muscle and soft tissue hemorrhage
• More insidious than hemarthrosis
• Lack of premonitory symptoms
• Iliopsoas hemorrhage
• Acute groin pain
• Marked pain on hip extension
• Hip flexion contracture
• Rotation is preserved, in contrast to
intra-articular hemorrhage

11. Muscle and soft tissue hemorrhage
• If untreated, mass may compress femoral nerve - signs and
symptoms of neuropathy
• Bleeding into gastrocnemius - equinus deformity from heel
cord contracture
• Hemorrhage into closed compartments - acute muscle necrosis
and nerve compression
• Of particular importance - volar compartment of forearm,
which can cause flexion contracture

12. ABNORMAL POSTURE FOLLOWING BLEEDS
Joint bleeds Position of comfort
Knee Flexion
Elbow Flexion
Ankle Planter flexion
Hip Flexion, ER
Shoulder Adduction, IR
Wrist and fingers Flexion
Toes Dorsi flexion
Muscle bleeds Position of
comfort
Hamstrings Knee Flexion, Hip
extension
Biceps brachii Elbow flexion,
Shoulder IR
Gastrocnemius Planter flexion,
Knee flexion
Iliopsoas HF, some ER &
increased lumbar
lordosis
Wrist and finger
flexors
Wrist and finger
flexion, elbow
flexion
Quadriceps Knee extension
Hip extensors Hip extension

13. MANAGEMENT - ACUTE BLEEDING
• Treated preferably in 2 hours- If in doubt, treat
• RICE- therapy
Factor VIII concentrates
1 IU/kg increases plasma level by
2 IU /dl
Dosage = Wt.(kg) x desired
factor level x 0.5
Factor IX concentrates
1 IU/kg increases plasma level by 1
IU /dl
Dosage = Wt.(kg) x desired
factor level

14. MANAGEMENT...
• Fresh Frozen Plasma (FFP) – all coagulation factors
• 1 ml FFP contains 1 unit of factor activity
• Starting dose is 15-20 ml/kg
• Cryoprecipitate- contains F VIII( 3-5 IU/ml), VWF but not F IX
and F XI
• Contain 70-80 units of FVIII in 30-40 ml

15. MANAGEMENT...
• Desmopressin- synthetic analog of vasopressin – increases plasma
level of F VIII & VWF
• In mild and moderate hemophilia
• Not used in pregnancy
• Route & Dosage – sc, iv, nasal spray
• 0.3 microgram/kg increases F VIII level by 3-6 times

16. Hemophilia A Hemophilia B
Type of
hemorrhage
Desired level Duration (days) Desired level Duration (days)
Joint 40-60 1-2 40-60 1-2
Superficial
muscle/ no NV
compromise
40-60 2-3 40-60 2-3
Iliopsoas and deep
muscle with NV
injury
Initial 80-100 1-2 60-80 1-2
Maintenence 30-60 3-5 30-60 3-5
CNS/GI
Initial 80-100 1-7 60-80 1-7
Maintenence 50 8-21 30 8-21

17. SUBACUTE OR CHRONIC ARTHRITIS
• Recurrent hemarthroses, may lead to a self-perpetuating condition
• Joint abnormalities persist in intervals between bleeding episodes
• Involved joint is chronically swollen although painless and only
slightly warm
• Chronic synovitis, including prominent synovial proliferation with
or without effusion, may be present
• Mild limitation of motion often with a flexion deformity
• Factor replacement does not modify these findings

18. END-STAGE HEMOPHILIC ARTHROPATHY
• Features in common with DJD and advanced RA
• Joint appears enlarged and “knobby” - osteophytic bone overgrowth
• Synovial thickening and effusion - not prominent
• Range of motion is severely restricted
• Fibrous ankylosis is common
• Subluxation, joint laxity, and malalignment - frequently present
• Hemarthroses decreases in frequency

19. HAEMOPHILIC ARTHROPATHY
• Joint that has had recurrent
bleeding episodes -“target
joint”
• 4 bleeds into the same joint
in a 6-month time period
• Most common are - knees,
ankles, and elbows

20. PATHOPHYSIOLOGY
Injury
Synovial
vessels
rupture
Blood
accumulates
Tamponade
of synovial
vessels
Ischemia of
synovium &
subchondral
bone
Repeated haemorrhage
Hyperplasia and fibrosis of synovium
Proliferating synovial tissue
Pannus
Macrophages , Matrix metalloproteinase-9
Invades and destroys cartilage
• Direct and indirect effects of iron on
synovium
• Activation of synovial cells by exposure to
blood components

21. RADIOLOGIC MANIFESTATIONS OF
CHRONIC HEMOPHILIC ARTHROPATHY
Characteristic ALSO SEEN IN
Periarticular soft tissue swelling RA
Periarticular demineralization RA
Marginal erosions RA
Subchondral irregularity and cyst formation RA, OA
Decreased joint space OA
Osteophyte formation OA
Chondrocalcinosis CPPD

22. RADIOLOGIC MANIFESTATIONS OF
CHRONIC HEMOPHILIC ARTHROPATHY
Specific
• Femoral intercondylar notch widening
• Squaring of distal patellar margin (lateral view)
• Proximal radial enlargement
• Talar flattening ± ankle ankylosis

23. ARNOLD HILL GARTNER STAGING- XRAY
• Stage 0: normal joint
• Stage I: no skeletal abnormalities, soft-tissue swelling is present
• Stage II: osteoporosis and overgrowth of the epiphysis, no cysts, no narrowing of the cartilage
space
• Stage III: early subchondral bone cysts, squaring of the patella, widened notch of the distal femur
or humerus, preservation of the cartilage space

24. ARNOLD HILL GARTNER STAGING- XRAY
• Stage IV: findings of stage III, but more advanced; narrowed cartilage space
• Stage V: fibrous joint contractures, loss of the joint cartilage space, extensive
enlargement of the epiphyses with substantial disorganization of the joint

25. MANAGEMENT

26. PAIN MANAGEMENT
• Patients with chronic hemophilic arthropathy
• difficulty distinguishing arthritic pain from acute pain of
hemarthrosis
• No relief of pain following aggressive factor replacement,
• pain may be related to arthritic changes
• NSAIDs controversial as they inhibit platelet function
• COX-2 inhibitors - safer
• More debilitating cases - narcotics may be needed

27. STRATEGIES FOR PAIN MANAGEMENT
Paracetamol
1) COX-2 Inhibitors
(Celecoxib/nimesulide)
2) PCM + Codeine (tds/qid)
3) PCM + Tramadol (tds/qid)
Morphine

28. EARLY INTERVENTION - PHYSICAL THERAPY
• Integral part of hemophilia team
• Helpful in management of target joints or those with hemophilic
arthropathy
• Exercise is important to counteract the long-term effects of bleeding in
the key joints and muscle groups
• Exercises progress from simple to more difficult levels

29. PHYSICAL THERAPY -PRINCIPALS
• Slow and steady
• Start slowly and progress gradually
• Isometric exercises
• contracting a muscle without producing movement at the joint
• excellent if muscles are very weak, or if joints are very painful with
movement
• No gain with pain
• if new pain begins during exercising - analysed carefully
• Is this muscle fatigue, or the sign of a new bleed?
• exercise placing too much strain on a damaged joint

30. EXERCISE THERAPY- PRINCIPALS
• Each situation is unique
• number of exercises and repetitions depends on the situation of each individual
• after a bleed, two or three repetitions may be all that can be tolerated
• also depend on which type of muscle is being exercised
• Stabilizer muscles should be trained with low resistance but many repetitions
• Use gravity and body weight as resistance to start
• Think about the other joints
• weight-bearing exercises to strengthen knee may be difficult and ill advised if the
ankle on the same leg is damaged

31. PHYSICAL THERAPY- PRINCIPALS
• Remember functional requirements
• Don’t forget proprioception
• Normal range of motion and muscle length
• Everyday activities are important too
• Everyday activities, such as walking, riding a bicycle, climbing stairs, or can have
beneficial effects too
• Swimming and non contact sports are advised

32. EARLY INTERVENTION - SPLINTING, ORTHOTICS,
AND ASSISTIVE DEVICES
Splints
• To immobilize a bleeding or painful joint
• To prevent deformity in chronic bleeding joints and/or to prevent postsurgical
deformity
• To correct joint deformity if a contracture is present
• To maintain range of motion
• To improve joint function
• To provide support for weakness or instability

33. CORRECTION OF CONTRACTURES
• Quengel cast
• Drop-out cast

34. CORRECTION OF CONTRACTURES
• Quengel cast
• Drop-out cast

35. CORRECTION OF CONTRACTURES
• Quengel cast
• Drop-out cast
• Traction with a half ring and Thomas splint

36. EARLY INTERVENTION - SPLINTING, ORTHOTICS,
AND ASSISTIVE DEVICES
Assistive devices include
• Crutches
• Cane
• Walker
Care should be taken to make sure that they have been fitted properly for the patient
and that the patient has had proper instruction in the use of these devices

37. EARLY INTERVENTION - SYNOVECTOMY
• Chronic hemophilic hemarthrosis is incited by a hypertrophic and highly vascular
synovium
• Removal of this synovium may be the key to prevention of further joint damage
• Accomplished through surgical and non-surgical procedures
• Radionuclide synovectomy
• Chemical synovectomy – Rifampacin/oxytetracycline
• Arthroscopic/open synovectomy

38. LATER INTERVENTIONS
• Hyaluronic acid
• Arthrodesis
• Total joint replacement

39. LATER INTERVENTIONS
• Hyaluronic acid
• Arthrodesis
• Total joint replacement

40. LATER INTERVENTIONS
• Hyaluronic acid
• Arthrodesis
• Total joint replacement