hemofilie-articol12_1_2005

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Haemophilia is a hereditary sex-linked disease due

to a defective gene of the X chromosome, resulting in

an insufficient production of the VIIIth coagulationfactor in type A haemophilia (85% of cases) or the

IXth factor in type B haemophilia.1-3 There are 3

forms of this disease to be distinguished: the severeform, which accounts for more than half of the cases,

having deficient factor blood levels < 1%, a moderate

form with factor levels between 1 and 5%, and a

mild form with a factor level >5%. The hemorrhagic

episodes in joints and muscles occur spontaneously inthe severe form, following minor trauma in moderate,

and only after major trauma or surgery in mild forms

of haemophilia.

Patients with severe haemophilia suffer fromrepeated hemarthrosis with the early occurrence of

haemophilic arthropathy. The knee is most commonly

affected (30%) followed by elbow (25%), ankle (15%),hip (5%) and other joints (


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and extensive joint surface erosions and, finally, to

the end stage of articular impairment haemophilic

chronic arthropathy.6

Other non-haemophilic diseases are characterized

by a coagulation factor deficit that can lead to chronicsynovitis and arthropathy. Von Willebrand disease,

together with coagulation factor V, VII, X, XI can affectboth sexes and evolve towards chronic arthropathy.1,2,7,8

On rare occasions, a female carrying the haemophilic

gene may have sufficiently low factor levels in orderto have osteoarticular complications.2,4 Because of

the long list of hemorrhagic diathesis, careful patient

history and detection of possible coagulation problems

is critical.4

The restitution of the joint function will always

be complete after the first hemarthrosis; unfortunately,

the hemarthrosis is sure to recur and will progress inadolescence or in early adulthood towards chronic

arthropathy. 6 Recurrence of joint effusions will producean alteration of joint structures. The synovium, irritated

by haematic dross, is inflamed and hypertrophies, the

articular cartilage is attacked by proteolytic enzymes

from blood and, at its periphery, by the secondary

synovial hyperplasia.2After every hemarthrosis of thesame joint, the level of recovery will be lower, slowly,

favorized by subchondral additional bleeding, joint

lesions will become chronic arthropathy.6-8 At this

stage, between painful episodes, both spontaneousor provoked by repeated movements or effort, thejoint remains deformed and swollen, the adjacent

muscles suffers atrophy and soon the epiphysis start

to hypertrophy and widen.8-10 Finally, the evolution is

toward fibrous, disabling ankylosis, causing numerous

social problems.2,4,11

The haemophiliac can present numerous

deformities, vicious positions, joint stiffness, muscle

or capsular retractions that can induce a flexum or

a valgus deviation of the knee associated with an

external rotation of the calf. At the ankle level equinusis common. The hip is not commonly affected, but

can adopt a flexion-abduction-external rotation

position.6,7,10,12 The joint troubles of the upper limb are

less spectacular as in the lower limb. At the shoulderlevel chronic arthropathy usually results in a substantial

joint mobility limitation. Hemarthrosis accelerate the

maturation of ossification nucleae, without generating

important limb discrepancy.7

One of the earliest signs will be the narrowing

of the joint space followed by moderate osteophyticreaction. At the pressure points level subcondral

osteosclerosis can appear. Joint surface will become

irregular, eroded, with indentations. The epiphyses are

increased in volume and show a blowed aspect.10

Knees can present a widening of the intercondylar

notch and decreased patellar height. A flatten talardome is commonly found in ankles. In the shoulder, the

osteolytic lesions are commonly found at the humeralneck level, similarly to the elbow, where widening of

the bony surfaces, the flattening of the radial head,

joint narrowing and osteophyte formation can beassociated.10,13 In latter stages one can mark out partial

or total dislocations. Muscular haematoma sometimes

determine soft tissue calcifications and even osteoma-

like images.14 Two classification of imagistic changes in

hemophilic arthropathy are widely used: the Petterssonand Arnold-Hilgartner scores.6,7,10,14 The average

Pettersson score for 12 consecutive young patients

operated in our service for knee and elbow chronicarthropathy was 8 (13 is maximum, 0 is normal).16,17

MRI will give an excellent assessment of both boneand soft tissues lesions.14 Echography is useful in

detecting haematomas, and is currently finding a role

in the evaluation of the haemophilic knee joint.18


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Generally, the treatment has 2 distinct goals:

to obtain the haemorrhage cessation and maintain

haemostasis until cicatrisation. Apart from substitution

treatment, one should improve on the haemostatic

environment using local measures. These can bedirect, like prolonged compression at the bleeding

point, strict immobilisation of the affected region,

blood and clot evacuation, or indirect measures: the

battle against secondary inflammatory changes usingNSAIDS or corticotherapy, antibiotics in the presence

Barnes, Monagle et al. reported osteopenia in all

of 19 children suffering from severe haemophilia.15

Thus they recommend screening and early detection

of these problems in young haemophiliacs.The decrease in bone density translated into

osteopenia or patent osteoporosis was found in 11

out of 12 patients with moderate or severe chronic

haemophilic arthropathy treated in 2nd Orthopaedic

Clinic of Timisoara.16 DXA osteotomodensitometrytargeted lumbar spine and hip joint.

An early diagnosis of haemophilia has its main

premise in a thorough knowledge from all the

physicians of epidemiology and capital symptomsof this disease.4,12 In our country, 15.38% of thehaemophiliacs are diagnosed following major

complications after surgery, and 16.13% have severe

postoperative anaemia or haemorrhagic shock at

diagnosis.4 Also, it has been considered that in half ofcases an early active diagnosis could be reached before

the onset of clinical signs, but is hindered by inadequate

attention given to family history during anamnesis.4

Beginning the prophylaxis treatment together with

early synovectomy of the hemarthrosis targeted joints

can prevent the onset of chronic arthropathy.19-21

of infectious risk, and the offset of physiological

fibrinolytic process with fibrinolytic inhibitors.22

Haemophilia treatment

became efficient starting 1940, when whole blood

transfusion were first used.2 Substitution treatmentrapidly evolved with the use of fresh frozen plasma

and cryoprecipitate (the precipitating proteins fromfresh frozen plasma heated at 4C, rich in factor VIII

and fibrinogen) and in 1970 with the use of specific

factor concentrate.2 Still, each of these methodsneeds the use of human blood, with devastating

consequences due to the possible viral transmission of

HIV and B and C hepatitis. To eliminate this problem,

monoclonal purified factor concentrate using affinity

cromatography or recombinant factor VIII andfactor IX (a synthetic product prepared in Chinese

hamster egg cells or in baby hamster renal cells), are

today the substitution treatment of choice.2,3,23

Thesubstitution treatment in B type haemophilia includes

the administration of factor IX factor concentrate orfresh frozen plasma. Cryoprecipitate and factor VIII

have no effect.

Treatment of acute events in mild to moderate

forms of haemophilia associates local measures with

desmopresine administration, which increases factorVIII and von Willebrand factor levels.24

This means substitution

treatment prior to the constitution of joint swelling.

Hemarthrosis is usually preceded by a strange sensationcalled haemophilic aura.2-4 This treatment can implyhome administration of FVIII, avoiding hospital

environment. The method is based on the ability of

the patient and parent to detect the first symptoms of

the illness and on the comunication between family

and physician.25

Firstly used by Nilsson in

Sweden in 1958, this approach seeks to maintain factor

VIII levels inside 1-5% on almost permanent basis.26

Factor VIII concentrate is administrated 3 times/week

and factor IX twice a week.20,26 It is astronomicallyexpensive (440.000 $/year according to Rodriguez-

Merchan),27 and with complicated maintenance of a

non-infected venous access. It is reserved to severe

forms of haemophilia. Its main justification is the lowrate of chronic poliarthropathy in moderate forms of

haemophilia (factor levels=1-5%). In some countries,

prophylaxis started at the age of 2, before the first

hemarthrosis, proved to avoid the onset of chronic

arthropathy in adulthood.20,26

The optimal choice is patient controlled

analgesia. A high tolerance to opiates usually exists inhaemophiliacs, so one should watch out for possible


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which permits a concurrent workup in ideal conditions

for different muscle groups of the lower limb and

pelvic girdle.

This

problem is caused by bleeding adjacent to nerveslike the sciatic, femoral or peroneal. The treatment is

usually conservative with substitution, bed rest andphysiotherapy. If an improvement is not achieved,

surgical treatment might be considered. Neurolysis

of the ulnar nerve may be necessary if ulnar paralysisoccurs in elbow hemarthrosis.32

Can be chemical or radioactive. This term describes an

intraarticular injection of a substance that will produce

synovial sclerosis of an inflamed, hypertrophiedsynovial membrane. There are two groups of drugs,

chemical and radioisotopical, both used with great

success. The indications are

low activity synovitis (joint pressure can cause leakageof isotopes outside the joint with irritation and joint

fistula) with minimal radiographic changes. 33,34,35 Used

isotopes are Au198 or Itrium90. Slow energy release

produces the destruction of synovial membrane and

subsynovial connective tissue resulting in an avasculartissue. Radiation penetrates for 1-4 mm in depth.36

The indications are

stage I and II synovitis with 3 haemorrhagic episodes

in 6 months and reccurent hemarthrosis with chronicsynovitis and decreased joint mobility.36,37 It is notindicated during acute hemarthrosis. Synoviorthesis

with Rifampicine has a proteolitic effect producing

fibrosis in subsynovial venous plexus similarly to

Adriamicine in pleurodesis.37

Until recently, some concerns on the risk ofradioactive synoviorthesis on an immature skeleton

due to possible lesions of growth cartilage and

cromosomial aberrations.33 Recent studies do not

endorse this hypothesis.34-35,37 An average efficacy

of 76-80% of cases using radioactive synovectomywithout any complication due to radioactivity has

been reported.35 In a review of the literature, Heim

states that synoviorthesis is the procedure of choice

in the treatment of haemophilic synovectomy, ifconservative treatment fails to control joint bleeding

and the synovium starts to hypertrophy.37

It is necessary to break the

vicious circle of amyotrophy and joint instability whichrapidly follows a hemarthrosis.22 Once the pain is

controlled, rehab is started during the immobilisationperiod and will be exclusively manual, on bedside.

addiction.28 Higher doses of analgesics are to be

administered and long term treatment is necessary.

The optimal administration modality is intravenous

or subcutaneous, not intramuscular. Aspirin should

be avoided due to its antiaggregant properties, butspecific COX2 inhibitors can be administered.29

The keyto prevent chronic arthropathy is to treat the first

hemarthrosis before the onset of chronic synovitis

and joint erosions. Joint aspiration is controversialdue to its infectious risk.6 Joint aspiration can thus be

performed only if factor levels have reached 20% and

not later than 12 hours after the bleeding onset. Luck,

Silva and Rodriguez-Merchan (2004) recommend

aggressive hemarthrosis treatment in a previouslyhealthy joint using joint aspiration puncture under

substitution treatment.30 In joints already suffering

from moderate and severe chronic arthropathy, thesame authors indicate joint aspiration for pain control.

Joint rest for hemarthrosis of the lower limb shouldinclude bed rest (one day) followed by walking with

crutches without weightbearing, together with limb

elevation with the patient in sitting position (3-4 days).

Elastic bandage is useful at knees although painful

joints should be immobilized in a posterior splint.Weight lifting is prohibited until the remission of the

bleeding (4-5 days). Ice application for 24-48 hours

can facilitate pain and bleeding volume control. Ice

application efficiency resides not only in its physicaleffects but also in its simplicity and ease of use.22

should be treated with

substitution treatment and 2-3 weeks to 6-8 weeksof

joint immobilization on a semi flexible device.28 The

deficient factor should be administered 3 times weekly,

to obtain 20-30% of normal blood levels. After eachadministration the patient should follow an exercise

program concentrated on active mobilisation under

the supervision of an experienced physiotherapist.29

In iliopsoas haematomas,

a sharp inguinal pain and psoitis is present. A cruralparalysis can coexist and can be affirmed through

quadricipital deficit, patellar reflex abolition and

anterior thigh anaesthesia.6,22,30 Differential diagnosis

with hip hemarthrosis30 is difficult. Echography, CT orMRI confirms the diagnostic. The treatment consists

of aggressive substitution (100%), and immobilisation.

Femoral nerve paralysis will be treated with electro

stimulation (exponential currents) and through active

assisted extension attempts.22 In the psoitis stage,traction and reduction manoeuvres are vane and

dangerous.31 As in the treatment of hemarthrosis, theswimming pool represents a very effective treatment


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Any force manoeuvre is prohibited. Immediately

after the pain disappears, one can start mobilisation,

aiming to recover joint movement through gentle

postures and active mobilisation. Walking will be

authorised starting with the 10th day29, dependingon evolution, with or without the help of a plastic or

plaster of Paris splint, to avoid flexum recurrence andprevents any muscular insufficiency, a factor of knee

instability. When flexion contracture occur, it should

be treated early and aggressively to prevent irreversiblechanges.30 A 2-3 days old flexion contracture can be

corrected using continuous skin traction followed

by recuperation treatment and orthesis.28 This is the

moment in which haemophiliacs can beneficiate

from swimming pool re-education. During waterimmersion, due to Archimedess law, a reduction of

body weight is obtained and joint loading is decreased.

Associated muscular contractions are dimmed by watertemperature (34-35 C, so called neutral temperature),

and their additional compression is diminished; thealgogenic substance production is stopped by these

measures.22 This last consideration explains the relief

of residual pain during balneophysiotherapy and its

fortunate effects on rehabilitation. It is important to

know that massage has no effect in haemophiliacs andis contraindicated.28

At this stage of the

disease rehab is limited to the correction of mobility

loss with regards to the joint status. Postures andmobilisation are of outmost importance and must beperformed following biomechanical axes. Additionally,

different types of orthosis with regards to joint levels

and deformity can be used. Passive orthosis which

reduce flexum but do not authorize function can be

rapidly replaced with splints or orthosis which maintainextension or permit a low degree flexum and permit

loading and walking.29

Through therapeutical movement repetitions we

can obtain an increased joint mobility and stability.

In severe cases where patient independency is atrisk, ergo therapy will help re-educate the patient

regarding daily activities. Thus he will learn again self

hygiene, dressing-undressing, transfer (from bed to

pram), in short terms to resume an independent life.6

Mecanotherapy is prohibited in haemophiliac, except

ergometric bicycle with variable pedal length.23 In the

particular case of surgical intervention, which are by

no means exceptional in haemophiliacs, rehab will be

crucial in postoperative period and will aim to recovernormal tonicity and trophicity to the muscles and,

subsequently, to obtain normal mobility.Admittance in a specialized centre and schooling

during this period is indicated (as is the case with

Cristian Serban Center in Buzias).4,23

Substitution treatment

often leads (especially after repeated use 15%

from severe haemophilia cases according tosome authors) to the development of antibodies

directed against factor VIII or IXcirculatinginhibitors.38 Their presence demands the use of

much higher substitution factor amounts with

often poor results and can contraindicate electivesurgery.2,25,27,30 A modern approach to this problem

consists in the administration of coagulation

factors which can bypass factor VIII and factor

IX respectively inside the coagulation cascade.

In type A haemophilia this agent is factorVIIa. 25Unfortunately the half-time of this factor is only 2

hours and its cost is several times higher than that

of recombinant FVIII.30

It is essential to detect thepresence of circulating inhibitors before starting

any substitution regimen.25,30,34,38

This disease should be precisely diagnosed

before even considering surgical treatment.4

Correct substitution cannot be achieved without the

identification and dosage of the missing factor. It isalso crucial to determine a few days before surgery if

the patient has developed factor circulating inhibitors,

because this will impair haematological treatment andcan hinder an elective procedure.2,25,27,30Additionally,factor dosage should be obtained just prior to surgery.

The hematocrite should be determined daily for a few

days postop, especially in A, B and AB groups, where

a positive haemolytic Coombs anaemia is possible.2

Also the HIV and viral hepatitis status must be knownbefore surgery.

After a carefull screening for possible circulating

inhibitors, a substitution regimen for orthopaedic

surgery aim to obtain 100% of factor activity

immediately prior to surgery (1 IU/kg will classicallyraise factor concentration by 2%), and then

progressively decrease dosage in order to maintain

levels above 5% for periods depending on the

amplitude of the surgical intervention. Factor levels

should be rechecked immediately after surgery, thenevery 1 or 2 days in major procedures.16,30 If vigorous

physical therapy is needed, some 30% of normal factor

level must be obtained prior to therapy.29

The general

principles, indications and contraindications for

elective surgery are summarized in Table 1.In the knee arthropaties operated upon arthro-


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scopically we have used postoperative transfusionusing a CBS II Stryker device.16 About 85% of patients

with severe or moderate haemophilia operated in ourclinic were infected with either B, C or both hepatitisviruses.17 Additional personnel precautions are

therefore welcomed.The removal of the synovium from a haemophilic

joint is a major procedure of joint discharge whichremoves a thick, hypertrophic, hypervascular tissuemass which releases intraarticularly toxic enzimes likeD catepsine, and constitutes a source of reccurenthaemorrhage due to the its high friability and low

absorption capabilities.8 First reports came from Storti and Ascari.44

It is actually scarcely used because it offers only areduction of pain and hemarthrosis frequence but donot improve joint mobility and do not prevent furtherjoint deterioration.7,31,44,45

First experiences were reported by Kim and

Wiedel in 1983.46 The indications are chronichaemophilic synovitis persistent for more than

six months and without response to conservativetreatment, and also as a adjuvant procedure afternon-surgical synovectomy.43 It offers the reduction ofhemarthrosis and pain with no or little improvementon mobility.16,31,43,44 It is a relatively safe method andwith satisfying results. The only relative disadvantageis the weak postoperative bleeding control and the riskfor additional hemarthrosis.16,31 It should be performed

early in evolution.45 It is the procedure with the highestproven efficacy and the only one who passed the testof time. Its main indication is synovectomy of the knee

joint. Many authors16,31,32, 41,43-46,48 have described thecomparative results on open knee synovectomy and

arthroscopy on patients with classic haemophilia.They concluded that in both groups hemarthrosis

frequency was significantly reduced. Arthropathy hadprogressed in both groups in the majority of cases.The arthroscopic group had a longer surgery butshorter hospitalisation and lower factor consumption.Arthroscopy produced a lower morbidity rate.

Our experience on 12 patients confirms thisdata, with a clear decrease in pain and hemarthrosisfrequency together with a modest increase in jointmobility.16,17

The elbow is a likely localisation (the most commonafter the knee) of reccurent haemorrhage followed by

widening of the radial head and degenerative arthritisof the radio-ulnar and ulno-trochlear joints. Resultsreported by Le Balch et al. were satisfactory withpain relief following open synovectomy on a singleexternal incision and radial head excision in patientswith a mature skeleton.49 The improvement offlexion-extension movements of the elbow cannot beexpected, but pronosupinaton is usually increased.

Three elbows in 2 patients operated in our clinicbenefited from this procedure with good resultsand social and professional integration. Due to the

friable synovium with vilonodular hypertrophy,the arthroscopic shaver proved to be very usefulfor synovial abrasion. The pronosupination wassignificantly improved at 6 months and no recurrentbleeding occurred in the operated elbows.16

Synovectomy has been proven useful for theankle joint. Greene described the results after anklesynovectomy on 5 patients who failed conservativetreatment and had recurrent hemarthrosis andpalpable synovial hypertrophy.47 Follow up has

shown a significant subsidence of hemarthrosis and

increased range of motion in all patients. Greenerecommended open synovectomy in detriment of


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arthroscopy, because of the difficult shaving of theposterior synovial tissue from the maleolar crypts andrisk of cartilage deterioration, even when a postero-lateral approach and external fixator joint distractionwas used. Moreover, ankle rehab proved easier than inknee or elbow.29,47

Joint surfaces erosions, together with subcondral

cysts and marked osteopenia can cause a deficient bonestock and a higher risk for perioperative fracture.7,31,32

The disadvantages of the technique are a muchhigher infection rate (7 times higher)31 than routinearthroplasty, the risk of early implant loosening,arthroplasty failure, together with the fact that the vastmajority of patients are young and active. The partiallydislocated patella, usually externally, is eroded takinga shell appearance, inadequate for the receptionof a prosthetic component. Because of synovialhypertrophy and arthrofibrosis, the approach is slowerand more difficult. The main indication for surgery isdisabling knee pain and deformity.31,32,50

In preoperative planning and during interventionthe following aspects should be taken intoconsideration:

1. The necessity of a large bony resection to correctdeformity, which might need an additionally stabilizedimplant, the use of relatively small components and a

relative muscular atrophy with altered functionality.2. A ligamentary disequilibrium after asymmetricresection to correct deformity.

3. Numerous technical difficulties which oftenrequire complementary gestures (capsulo-ligamentaryrelease, subperiosteal disinsertion of the poplitealtendon and of the lateral collateral ligament in a markedvalgus deformity, almost systematic semimembranousdisinsertion for genu varum,50,51 tibial correctiveosteotomies and distal femoral osteotomies.54,55

Most authors31,32,50,51,52 recommend the use of

cemented tricompartimental prosthetic designs. Thecement can be used to cover the free osteotomy planesto prevent bleeding.

Range of motion is not substantially improvedafter arthroplasty.50 Manipulations can be performedbetween the 7th and 10th postoperative day, beforethe formation of adherences.29 Physiokynetotherapyis essential for a good result and is postoperativelycontinued for 6-9 weeks. 28 It needs factor protection

in the first 3 weeks (30% from normal concentrationbefore each session)29 and an excellent patient

compliance.A unic aspect in these patients is the remarkable

limp with a stiff lower limb due to knee and anklearthrofibrosis.31 This produces increased tensions onthe hip because of the length of the lever arm and lossof the shock absorbent function of knee and ankle.In patients with important hip destruction, total hiparthroplasty was extremely efficient. Joint mobility islargely improved after this procedure.54

Arthrodesis of the hip is contraindicated even

in young patients due to the presence of kneearthropathy.32


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Unlike in the knee, cemented prosthesis have notperformed as well as non-cemented designs. A reasonfor the early loosening of hip prosthesis in haemophiliacan be the additional stress of the limp. Anotherconsideration refers to the possibility of bone-cementinterface bleeding.40,54

Elbow arthroplasty in haemophiliacs is rarelyperformed due to limited reconstructive options incase of an infection.31,32 It can become an option inthe future. There are few studies on small series onshoulder arthroplasty in haemophiliacs, especially

because of the good results of arthrodesis.6,7,31,40 Oneof the problems seems to be the insufficient bonestock at the glenoid cavity level. 31 The increase inrange of motion after arthroplasty is also modest.31

arthrodesis is to be considered in extremelydamaged joints with flexum and axial deformity,

especially in young patients, where endoprosthethicarthroplasty is impossible. It has the advantages of goodfunctional results and correction of joint deformity. Itis crucial however to preserve the contralateral joint ina good condition.6,7,40

provesatisfactory on small series of patients withhaemophilia.6,7,31,33,40 The use of internal fixation indetriment of the external fixation is recommended toeliminate bleeding and infection around the fixationrods.33 Flexion contractures can be corrected by

removing bony ridges during arthrodesis.33

Luck etal. recommend tibiotalar compression arthrodesis torelieve pain, reduce hemarthrosis and equina in adultpatients with haemophilia.31 Shoulder arthrodesispresents the privilege of a lower infection rate, longerlife span and force in the upper limb, compared toarthroplasty.31,32 The optimal arthrodesis positionis 20-30 abduction, 30 flexion and 30-40 internalrotation.31

For hemophiliacs with axial deformities osteotomies

can be necessary.52,53,55,56 In patients with symptomatic

genu varum, proximal tibial valgus osteotomy can beperformed.52,53,55 Rodriguez-Merchan et al. described14 haemophiliacs suffering from symptomatic genuvarum treated with osteotomy. They preferred theexcision of tibioperoneal syndesmosis to peronealosteotomy. Their conclusion was proximal tibialosteotomy is efficient and feasible.32

Some authors think these are rare in haemophiliacs

who presumably lead a very cautious life.6,22,40 Otherssuggest that haemophiliacs are predisposed to fractures

due to osteopenia, cysts resulted after intraosseoushaemorrhage, prolonged imobilisation and oralsteroids treatment.4,31 Joint instability, axial deformities,muscular retraction and atrophy predispose to fallinginjuries.

Fractures are frequently produced after minor

trauma, being sometimes masked by muscularhaematoma and associated hemarthrosis. Femoralfractures are most frequent representing 50% of allfractures.32 After obtaining haemostasis, the fracturecan be treated following the general principles offracture treatment in non-haemophilic patients.Circular casts are prohibited in fracture treatment, inhaemophilia, due to a considerable risk of extensivehaematoma and secondary ischaemia.32

Due to its considerable risk, osteosinthesis shouldbe, whenever possible, avoided.30 Osteotaxis16,33 is

controversial. In a patient suffering of a moderatehaemophilia and with a highly comminutive fracturein the distal femur we performed closed reductionand osteotaxis with external fixation. The evolutionwas slow, with recurrent bleeding around thetranscutaneous fixation rods and haematoma needingrepeated surgical drainage. The resulted callus washypertrophic.16

Conservative treatment can be followed if closed,

stable reduction is obtained. Hospital admission isrecommended. An unstable fracture has a risk of

haematoma and later haemophilic pseudotumorformation.16,30,31,32

They are specific to haemophilia. Pathogenesis of

this lesion includes progressive haemorrhage resulting ina encapsulated haematoma whose growth can produceadjacent tissue destruction. Bone erosion can produce apathological fracture and soft tissue and skin erosions,local and general infection, bleeding and anaemia. Thesecomplications can be lethal. 57 About 1-2% of thehaemophiliacs have pseudotumors and death rate is 30%.

7,40. It has been shown that the main favourising factorin pseudotumor formation is inadequate substitutiontreatment and the presence of inhibitors.25,31,57


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Bone cysts can be considered early stage

pseudotumors, with uncertain evolution. They can be

mistaken for an osteoid osteoma.14 Diagnosis includes

echography and MRI.

Giant pseudotumors are expansive and locallydestructive and can be multiple. The final growth

result is the rigid structures destruction (bones) and thedisplacement (e.g. kidneys) or compression of mobile

structures (e.g. nerves). The content of a pseudotumor

is usually vascularized so that arterial embolisation canbe beneficial. CT, MRI and arteriography14,57 are usually

necessary preoperatively. Treatment options include:

1. Radiotherapy, not indicated before but after

surgery.

2. Aspiration and instilation, used only for smalltumors, present an infectious risk.

3. Percutaneous evacuation, which can be difficult

and with a high infectious risk.57

4. Surgery with complete resection whenever

possible, cavity filling with fibrin, muscle, internalfixation and bone grafting.31

Haemophilic patients remain one of the most

defavourized patient category, often regarded as

difficult or impossible to treat. They are obviously

underdiagnosed in our country, with a national

prevalence of 4/100000, while in whole of Europeis around 10/100000 (data from the National

Haemophilia Register remarkably in Timis county the

prevalence is 9.2/100000).4 The surgical interventions

on these patients without substitutive coverage willhave serious consequences. Access to substitution

treatment, quality and quantity remains deficient.

In the presence of a complete diagnosis and of

an adequate substitution treatment the slowing or

even the arrest of the progression towards chronicarthropathy can be achieved. Also, surgical treatment

can be applied in these conditions with risks similar to

the non-haemophilic patients. Prophylaxis treatment

remains actually prohibitive in our country due to

its astronomical costs.27 Patients with pseudotumors

should always be directed towards a orthopaedic

center specialized in treating haemophilia, having an

experienced surgeon, nurse and anesthesiologist, in closecooperation with a haematology department. We also

recommend that all the elective surgical interventions(artroplasty, synovectomy etc.), be done in such

centres. In the case of severe chronic arthropathy with

important deformity and depleted bone stock we mustbe prepared for nonstandard situations and implants.

Hemophilic patients with manifestations similar to

non-haemophiliacs, especially those with trauma and

acute hemarthrosis, should be immediately treated

in any hospital with a haematology department andsent to a specialized centre only after the management

of the acute event. We must keep in mind that the

first step in the management of any osteoarticularcomplication of haemophilia is the administration

of the deficient factor as soon as possible and thatany surgical manoeuvre is allowed only after total

substitution coverage by a haematologist.

Haemophilia is a singular disease. Without

treatment the severe haemophiliacs will die during

adolescence or early adulthood. However with an idealsubstitution these patients can be considered healthy

and suffer no bleeding episodes or disability. That

depends on many factors, especially on the economical

status of the health system and that of the patient. Ina wealthy system, the substitution depends only on thehaematologist and the patients discipline.

The severity of the manifestations depends

on the severity of the disease and of the quality of

the substitution treatment. The management of

haemophilia needs a multidisciplinary approach and isextremely expensive.

1. Manhalter C. Molekularbiologische Grundlagen der Haemophilie A und

B und des von Willebrand-Syndroms. Haemophilie. Die Antworten

2000:12-18.

2. erban M, Schramm W. Hemostazeologie clinic. Brumar Ed, Timioara,

2001.

3. Aronstam A, Rainsfad SG, Painter MJ. Patterns of bleeding in adolescents

with severe hemophilia A. BMJ 1979;1:469-79.

4. Petrescu C. Hemofilia - complicaii i sechele. PhD Thesis, Timioara.

5. Klein I, Andricovics H, Bors A, et al. A haemophilia A and B molecular

genetic diagnosis programme in Hungary: a highly informative and

costeffective strategy. Haemophilia 2001;7(3):306-12.

6. Aledort LM, Haschmeyer RH, Pettersson H. A longitudinal study of

orthopaedic outcomes for severe factor VIII-deficient haemophiliacs.

The Orthopaedic Outcome Study Group. J Intern Med 1994;236:

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