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HAEMOPHILIA ANKIT SODANI SR-PM&R, LHMC

Haemophilic Arthropathy (PMR)

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Page 1: Haemophilic Arthropathy (PMR)

HAEMOPHILIAANKIT SODANISR-PM&R, LHMC

Page 2: Haemophilic Arthropathy (PMR)

• 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

Page 3: Haemophilic Arthropathy (PMR)

• 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

Page 4: Haemophilic Arthropathy (PMR)

DIAGNOSIS

Suspected in patients presenting with history of◦ Easy bruising in

early child hood◦ Spontaneous

bleeds◦ Excessive bleeding

following trauma or surgery

Page 5: Haemophilic Arthropathy (PMR)

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

DIAGNOSISScreening 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) or1-5% of normal

Occasional spontaneous bleeding

Mild 5-40 IU/dl (0.05-0.40 IU/ml) or5-<40% of normal

spontaneous bleeding rare, severe bleed with major trauma

Page 6: Haemophilic Arthropathy (PMR)

Mother is a carrier Father has hemophiliaMother is a carrier ANDFather has hemophilia

Page 7: Haemophilic Arthropathy (PMR)

Hemarthosis 70 - 80%

Muscle 10-20%

CNS bleed < 5 %

GI, CNS, Neck & throat bleeds are potentially life

threatening

Page 8: Haemophilic Arthropathy (PMR)

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

Page 9: Haemophilic Arthropathy (PMR)

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

Page 10: Haemophilic Arthropathy (PMR)

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

Page 11: Haemophilic Arthropathy (PMR)

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

Page 12: Haemophilic Arthropathy (PMR)

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 lumbarlordosis

Wrist and finger flexors

Wrist and finger flexion, elbowflexion

Quadriceps Knee extension

Hip extensors Hip extension

Page 13: Haemophilic Arthropathy (PMR)

MANAGEMENT - ACUTE BLEEDING

• Treated preferably in 2 hours- If in doubt, treat

• RICE- therapy

Factor VIII concentrates1 IU/kg increases plasma level by

2 IU /dlDosage = Wt.(kg) x desired

factor level x 0.5

Factor IX concentrates1 IU/kg increases plasma level by 1

IU /dlDosage = Wt.(kg) x desired

factor level

Page 14: Haemophilic Arthropathy (PMR)

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

Page 15: Haemophilic Arthropathy (PMR)

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

Page 16: Haemophilic Arthropathy (PMR)

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

Page 17: Haemophilic Arthropathy (PMR)

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

Page 18: Haemophilic Arthropathy (PMR)

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

Page 19: Haemophilic Arthropathy (PMR)

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

Page 20: Haemophilic Arthropathy (PMR)

PATHOPHYSIOLOGY

InjurySynovial 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

Page 21: Haemophilic Arthropathy (PMR)

RADIOLOGIC MANIFESTATIONS OFCHRONIC 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

Page 22: Haemophilic Arthropathy (PMR)

RADIOLOGIC MANIFESTATIONS OFCHRONIC HEMOPHILIC ARTHROPATHY

Specific

• Femoral intercondylar notch widening

• Squaring of distal patellar margin (lateral view)

• Proximal radial enlargement

• Talar flattening ± ankle ankylosis

Page 23: Haemophilic Arthropathy (PMR)

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

Page 24: Haemophilic Arthropathy (PMR)

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

Page 25: Haemophilic Arthropathy (PMR)

MANAGEMENT

Page 26: Haemophilic Arthropathy (PMR)

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

Page 27: Haemophilic Arthropathy (PMR)

STRATEGIES FOR PAIN MANAGEMENT

Paracetamol

1) COX-2 Inhibitors (Celecoxib/nimesulide)

2) PCM + Codeine (tds/qid)3) PCM + Tramadol (tds/qid)

Morphine

Page 28: Haemophilic Arthropathy (PMR)

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

Page 29: Haemophilic Arthropathy (PMR)

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

Page 30: Haemophilic Arthropathy (PMR)

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

Page 31: Haemophilic Arthropathy (PMR)

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

Page 32: Haemophilic Arthropathy (PMR)

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

Page 33: Haemophilic Arthropathy (PMR)

CORRECTION OF CONTRACTURES

• Quengel cast

• Drop-out cast

Page 34: Haemophilic Arthropathy (PMR)

CORRECTION OF CONTRACTURES

• Quengel cast

• Drop-out cast

Page 35: Haemophilic Arthropathy (PMR)

CORRECTION OF CONTRACTURES

• Quengel cast

• Drop-out cast

• Traction with a half ring and Thomas splint

Page 36: Haemophilic Arthropathy (PMR)

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

Page 37: Haemophilic Arthropathy (PMR)

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

Page 38: Haemophilic Arthropathy (PMR)

LATER INTERVENTIONS

• Hyaluronic acid

• Arthrodesis

• Total joint replacement

Page 39: Haemophilic Arthropathy (PMR)

LATER INTERVENTIONS

• Hyaluronic acid

• Arthrodesis

• Total joint replacement

Page 40: Haemophilic Arthropathy (PMR)

LATER INTERVENTIONS

• Hyaluronic acid

• Arthrodesis

• Total joint replacement