SOCIEDADE BRASILEIRA DE ORTOPEDIA E TRAUMATOLOGIA
w w w . r b o . o r g . b r
Case
report
Hemarthrosis
subtalar,
a
rare
diagnosis
夽
Dov
Lagus
Rosemberg
a,∗,
Miguel
Akkari
a,
Susana
dos
Reis
Braga
a,
Mario
Lenza
b,
Fabio
Ricardo
Picchi
Martins
b,
Claudio
Santili
aaFaculdadedeCiênciasMédicasdaSantaCasadeMisericórdiadeSãoPaulo,SãoPaulo,SP,Brazil
bHospitalIsraelitaAlbertEinstein,SãoPaulo,SP,Brazil
a
r
t
i
c
l
e
i
n
f
o
Articlehistory:
Received30March2016 Accepted23May2016 Availableonline11March2017
Keywords: HemophiliaB Hemarthrosis Anklejoint
a
b
s
t
r
a
c
t
TypeBhemophiliausuallyaffectspatientswithafamilyhistoryofthisdiseaseandhas atypicalclinicalpicture.However,inthepresentcaseitappearedinapatientoutsidethe typicalagewithnofamilyhistoryofhematologicmalignanciesandwithanunusualclinical picture.
©2016SociedadeBrasileiradeOrtopediaeTraumatologia.PublishedbyElsevierEditora Ltda.ThisisanopenaccessarticleundertheCCBY-NC-NDlicense(http:// creativecommons.org/licenses/by-nc-nd/4.0/).
Hemartrose
subtalar,
um
diagnóstico
raro
Palavras-chave: HemofiliaB Hemartrose
Articulac¸ãodotornozelo
r
e
s
u
m
o
AhemofiliadotipoBafetanormalmentepacientescomhistóriafamiliarpositivaparaa doenc¸aeseapresentacomquadroclínicotípico.Nopresentecaso,noentanto,odiagnóstico sedeuemumpacienteforadaidadetípica,semhistóricofamiliardedoenc¸ashematológicas equadroclínicodiferentedohabitual.
©2016SociedadeBrasileiradeOrtopediaeTraumatologia.PublicadoporElsevierEditora Ltda.Este ´eumartigoOpenAccesssobumalicenc¸aCCBY-NC-ND(http:// creativecommons.org/licenses/by-nc-nd/4.0/).
Introduction
Hemophiliasarehematologicdiseasesthatresultsinchanges inthecoagulationprocess,duetodeficiencyofaclotting fac-tor.Thediseasehasageneticcauseandthemostcommon
夽
StudyconductedattheSantaCasadeMisericórdiadeSãoPaulo,DepartamentodeOrtopediaeTraumatologia,GrupodeOrtopediae TraumatologiaPediátrica,SãoPaulo,SP,Brazil.
∗ Correspondingauthor.
E-mail:dovlrosemberg@gmail.com(D.L.Rosemberg).
hemophiliasaretypeA(factorVIIIdeficiency)andtypeB (fac-torIXdeficiency).
TypeB(orChristmas disease)accountsfor14%ofcases, equivalenttoonecaseper30,000birthsofmalechildren.1,2
Thediseaseishighlyassociatedwithmalesduetothefact
http://dx.doi.org/10.1016/j.rboe.2017.03.006
that the altered gene is located in the long arm of the X chromosome.The most common signs are bleeding, often inthemucousmembranes,joints,andsubcutaneoustissue. Symptomsincludehemarthrosis,bruisings,hematuria,and gastrointestinal bleeding.3 The diagnosis is made by tests
thatassessthecoagulationcascade:prothrombintime(PT), international normalized ratio (INR), and activated partial thromboplastintime(aPTT).Iftheintrinsicpathwayof coag-ulationisaffected,thePTwillbenormal,buttheaPTTwillbe higher.ToconfirmfactorIXdeficiency,thefactoritselfshould bemeasured.3,4
Hemarthrosisisableedinginthejointsandcanbeof trau-matic,hematologicalorneurologicalorigin,amongothers.5
The most common cause is trauma to articular regions. Incaseswhereitcourseswithneurologicalproblems, they areusuallyassociatedwiththeCharcotjoint,analteration inwhich there isno articular proprioceptive(neurological) perception. Thehematological etiology may be induced by drugsoracquiredhematologicaldiseases(myeloproliferative diseasesandthrombocytopenia,amongothers),orbe heredi-tary(hemophilia).Themostcommonbleedingsitesarethe knee, elbow, and tibio-talar joints.6,7 Theinitialsymptoms
arerednessandswelling,sometimesassociatedwith pares-thesia,andtheprocessmayprogresstoseverepain.8Ifthe
hemarthrosisis nottreated, theinflammatory process will becomechronicandmayleadtofunctionalimpairment.The diagnosis can be made using imaging tests such as ultra-sonography,CTscan,ormagneticresonanceimaging(MRI); however, the gold standard is the aspiration of the joint fluid.7,9,10
Hemarthrosesinpatientswithhemophilia Bare usually indicatorsofmoderateorseverefactorIX deficiency.When theankles areaffected,it isdifficulttoexclusivelyusethe symptomstodistinguish whichspecificjoint was affected. AccordingtoRodriguez-Merchan11 andLofqvistetal.,12 the
subtalarjointmaybeassociatedinapproximately50%ofthe
cases.However,itisrarelyinvolvedandreportedinisolation. Theclinicalpictureinthesepatientsmaybeunclear,since manydonotexperienceseverepainorsignificantfunctional gaitlimitation.
Thisstudyaimedtodescribethedifficultyinthe diagno-sis ofhemophilia Bin anextremely rare event of isolated hemarthrosisofthesubtalarjoint.
Case
report
Malepatient,aged1yearand8months,bornandraisedinSão Paulo,Brazil,white,andofnodeclaredreligion.Hismother reportedhehadbeenhavingdifficultytowalkforeightdays, due toproblems inweight bearing and dorsiflexionof the leftfoot.Themotheralsoreportedanabruptandprogressive swelling inthelateral andposteriorregionofhisankle.He remainedafebrileatalltimesandwasprescribedPredsim® (sodiumprednisolonephosphate)andHixizine®(hydroxyzine hydrochloride)forsuspectedinsectbite(Fig.1).
Themotherdeniedchangesinothersystems,routineuse ofmedications,and historyofchronicdiseasesinthe fam-ily. Thevaccine immunizationspertinent to his age range wereup-to-date.Thechildhadahistoryofbronchiolitisat5 months;coxsackievirusinfectionat8months,andanepisode oftransienthipsynovitisatage1yearand2months,which resolveditselfinashortperiodoftime.
Atthegeneralphysicalexamination,therewereno cardio-vascular,pulmonary,abdominal,orneurologicalchanges.
The orthopedicphysical examinationshowed increased volumethroughouttheankle,butwithoutlocaltemperature increaseorredness.Thegaitwasaltered,withleftsidelimping andimpairedweightbearing.
Theresultsoftheinitialtestswereasfollows:C-reactive protein(CRP),8.22mg/L;capillaryglucose,87mg/L;and eryth-rocytesedimentationrate(ESR),15mm.Thecompleteblood
count results were as follows: hemoglobin (Hb), 11.9g/dL; hematocrit (Ht), 34.9%; mean corpuscular volume (MCV), 70.6fl; mean corpuscular hemoglobin (MCH), 24.1pg;mean corpuscularhemoglobinconcentration(MCHC)34.1g/dL;red celldistributionwidth(RDW),15.2;leukocytes,15.98×103uL,
showingapredominanceoflymphocyteswith7447uL; neu-trophils, 7015uL; and monocytes, 1135uL. In addition, the plateletscountwas460×103uL.
Comparativeradiographs oftheankles were performed, whichdidnotdemonstratebonelesion;however,itwas pos-sibletovisualizetheincreaseinsofttissuedensificationin thelowerportionofKager’sfatpatandoftheentirelateral periarticularregionofthehindfoot.
Ultrasound examination of the left foot and ankle evidencedthe thickening ofthe long fibulartendon,which washypoechoicandheterogenic(tendinopathy),butwithout ruptures.Therewasalsomildskinandsubcutaneousedema intheperi-andinfra-malleolarlateralregionandabsenceof jointeffusion.
Asthesedatawereoflowrelevanceforthediagnosis,an MRIwasrequested,andtheinitialreportintheemergency departmentshowedajointeffusionintheposteriorsubtalar jointwithsignsofsynovitisinthe tibialtalarjoint, associ-atedwithadjacent soft tissueedemathat extendedtothe sinustarsiandtoKager’sfatpad.Anothernoteworthyfinding wasanodulariformimageoflikelysynovialproliferation adja-centtothelateralcontourofthetarsalsinus,whichmeasured approximately1.5cminthelongestaxis.
The alterations were observed mainly in the retro-malleolartopography,inthefibularregion.
Diagnostichypothesesofallergytoinsectorspiderbitedue tolocalizedhyperemia(Fig.1),tovillonodularsynovitis,orto theinflammatory/infectiousprocesswereraised.
Punctureswerethenmadeontheankleintheoperation room,guidedbyfluoroscopy.Thefirstpuncturewasmadein thelateralregion,anteriortothemalleolus,alongthesinus tarsi;anotherpuncture wasmade posteriorly(betweenthe fibulartendonsandthemalleolus),andthethirdlaterallyin theinfra-malleolarregion.
Atthefirstpuncturetheaspectwasofsynovialfluid,less thickandmorefluid,withtransudatecharacteristics.Inturn, inthesecond puncture,constant blooddrippingofvenous aspectandcontinuousflowwasobserved.Thelastpuncture, madefortriangulationandanattempttolavagethespace, resultednegative,withoutfloworbackflow.Allcollectedfluid wassentforanatomopathologicalandlaboratoryanalysis.
Thecytologicalanalysisofthetransudatecollectedinthe firstpuncture indicated42%neutrophils, 34%lymphocytes, and 20% monocytes. Inthe second puncture,lymphocytes predominated(51%),followedbyneutrophils(38%)and mono-cytes (7%). In both culture, the results were negative for aerobic, anaerobic, and acid-alcohol resistant bacilli (no growth).
During the surgical procedure, new laboratory exams were requested (twodays after the first exams),including coagulation;however, there was notenough blood forthis exam, due to the difficulty in collecting and to the rup-tureofpuncturedvessels.Theotherexamsindicatedhigher inflammatorymarkers:CRP,11mg/L,andESR,18mm. Further-more,uricacid,creatinephosphokinase(CPK),aldolase,and
creatinine were also outside the normal range: 2.8mg/dL, 52U/L,7.9U/L, and0.27mg/dL,respectively. Urea,aspartate aminotransferase(AST),andalanineaminotransferase(ALT) had normalvaluesat228mg/dL,33U/L,and 21U/L, respec-tively.Finally,thecompletebloodcountshowednoalterations: Hb, 11.5g/dL; Ht, 33.3%; MCV, 70.3fl; MCH, 24.3pg; MCHC, 34.5g/dL;RDW,15.3%;leukocytes,13.6×103uL,with a
pre-dominanceofneutrophils(46%)andlymphocytes(42.6%);and platelets,406×103uL.Inadditiontothesetests,theserologies
forhepatitisA(IgM),hepatitisB(HBSantigen,HBEantigen, anti-HBS,anti-HBE,anti-HBC),hepatitisC(anti-HCV),Epstein Barr,cytomegalovirus,toxoplasmosis,erythrovirus,andHIV wereallnon-reactive.
Prophylacticantibiotictherapywithcefuroximewas per-formedafterthesurgicalprocedure.
Inthe24hfollowingtheprocedure,thehighvolume out-flowofthebloodyfluidpersisted,stainingtheplasterinthe firstdressingchange.
Aftertheprocedure,theanklehaditsvolumestabilized, mobilityimprovedandpaindecreased,butextensive ecchy-mosisappeared,includingontheposteriorregionoftheknee dueto“castfriction”(Fig.2),aswellasinotherregions.
Duetothepresenceofthesesymptoms,whichare indica-tiveofbleeding,andthefactthattheexaminationwasnot performed duetothe lowvolumeofbloodcollected inthe surgical center, a new coagulogram was requested, which showed a decreasedPT of11.9s, aswell asa reduced INR of 0.86. TheaTTP was higher, at85.5s, with anincreased patient/normallaboratoryratioof2.52andastandardplatelet countof433,000/mm3.Whenassessed,thecoagulation fac-torsindicatedthatfactorVIIIwasslightlyincreasedat201% (200%isthereferencevalue),VonWillebrandfactorwaswithin thenormalrange(87%),andthatthepatienthadasignificant factorIXdeficiency,withlessthan1%activity(theminimum referencevalueis60%).
Discussion
The incidence of type B hemophilia in the population is 1 in20,000–30,000 live birthsand its prevalenceof5.3 per 1,000,000 men.1Thishematologicdiseaseaccountsfor15%
ofcasesofhemophilia,representingthesecondmost com-montype.Nopredominancehasbeenevidencedinanyethnic group.6Hemarthrosiscorrespondsto85%ofbleedinginthese
patients, often occurringin the second decade oflife.The ankleisaffectedin45%ofthecases;ofthese,thesubtalarjoint isaffectedin55%,butrarelyinisolation.6,12,13Themost
com-monsymptomsarepain,lossofmobilityandjointfunction, axisdeviation,andfinally,ankylosis.14
Thediagnosisisconfirmedexclusivelybylaboratory alter-ations inthe coagulogram,but someimagingtestshelpto establishtheclinicalpicture.Radiographyisanexaminationof lowsensitivityandspecificityfordiagnosis.Theeffectiveness oftheultrasoundexaminationisquestionedintheliterature; theauthorswhodefenditsusearguethatitisalow-cost, non-invasiveexamthatcandetectthepresenceofintra-articular fluidwithease.7MRIisconsideredthemostsensitivetestfor
Fig.2–Ecchymosisafterretention.(A)rightarm;(B)leftarm.
case,asthepatientwasayoungchildrequiringanesthesiafor theperformanceoftheexam,anultrasoundwasrequested.
Theimageaspectindicatesthepossibilityofalterationof the inflammatory nature, reinforcing the need to consider infectiousetiologiesinthedifferentialdiagnosis.These alter-ationswereobservedinallplanesoftheT1-andT2-weighted images.Reassessingthecase,theauthorshighlightedthefact that,inadditiontothesynovialinflammation,thesignalofthe synovialfluidwasheterogeneous,especiallyinT2-weighted images,whichcouldcorrespondtointra-articularclots,thus raisingthepossibilityofacoagulopathy(Fig.3).
Type B hemophiliacs have normal PT with increased aTTPandfactorIXdeficiency.16Thiswasmarginallydifferent fromthatobservedinthepresentpatient,whohadslightly decreasedPT.
Differentialdiagnosesforcasesofhemarthrosisare subdi-videdintotraumaticandnon-traumatic.Traumaticsituations areeasier todiagnose,duetothe historyofrecenttrauma in the region. Non-traumatic diseases include infectious
Fig.3–SagittalMRIT2-weightedimage.Thetipofthe arrowindicatesnodulariformformationandclot.
diseases,aswellasneurological,vascular,andhematological neoplasias.Inordertoestablishadiagnosis,othersignsand symptomsshouldbeinvestigated,aswellaspossible labora-torychanges.Amongthehematologicalalterations,theorigin ofthedeficiencymustalsobedetermined,inordertoestablish themostadequatetreatment.
Based on the increasedaTTP, together with a close-to-normal PT and a very significant factor IX deficiency, the diagnosis oftypeBhemophilia was madeand the specific treatmentwasinitiated.
Theimportanceofthisreportistodescribethepossibility oftheassociationofhemophiliawithisolatedhemarthrosisof thesubtalarjoint.Noothercaseswiththisspecific combina-tionwereretrievedintheliterature,whichexplainstheinitial difficultytoachievethediagnosis.Epidemiologyprovesthis rarity,asthiswasapatientinthefirstdecadeoflife(under 2years),inwhomonlythesubtalarjointwasaffected,with anon-characteristic clinicalpicture andapatientwho was notcollaborativefortheexam;moreover,therewasnofamily historyofthedisease.
Theauthorsconcludethatthatitisnotuncommontohave patientsinthepediatricagegroupwithanklevolumeincrease and difficulty to walk. Therefore, theknowledge ofsimilar casesandtreatmentstrategiesisrelevantforthedifferential diagnosis.
Conflicts
of
interest
Theauthorsdeclarenoconflictsofinterest.
r
e
f
e
r
e
n
c
e
s
1.ZaidenRA.HemophiliaB:practiceessentials,background, pathophysiology;2014.Availablefrom:http://emedicine. medscape.com/article/779434-overview#a5[cited16.08.15]. 2.SoucieJM,EvattB,JacksonD.Occurrenceofhemophiliainthe
3. Villac¸aP,CarneiroJ,D’AmicoE.Hemofilias.In:ZagoM,Falcao R,PasquiniR,editors.Tratadodehematologia.SãoPaulo: Atheneu;2013.p.627–35.
4. KnottDL.HaemophiliaB(factorIXdeficiency);2014.p.1–6. Availablefrom: http://patient.info/doctor/haemophilia-b-factor-ix-deficiency[cited16.08.15].
5. NigrovicPA.Hemarthrosis;2014.Availablefrom:http://www. uptodate.com/contents/hemarthrosis?source=searchresult& search=hemartrose&selectedTitle=1%7E81[cited16.08.15]. 6. CarvajalAlbaJA,JoseJ,CliffordPD.Hemophilicarthropathy.
AmJOrthop.2010;39(11):548–50.
7. LobetS,HermansC,LambertC.Optimalmanagementof hemophilicarthropathyandhematomas.JBloodMed. 2014;5:207–18.
8. Hemarthrosis–symptoms,causes,treatment,definition; 2015.Availablefrom:http://mddk.com/hemarthrosis.html [cited16.08.15].
9. SarimoJ,RantanenJ,HeikkiläJ,HelttulaI,HiltunenA,Orava S.Acutetraumatichemarthrosisoftheknee.Isroutine arthroscopicexaminationnecessary?Astudyof320 consecutivepatients.ScandJSurg.2002;91(4): 361–4.
10.WorldFederationofHemophilia.Guidelinesforthe
managementofhemophilia.2nded.Montreal,Canada:World FederationofHemophilia;2005.
11.Rodriguez-MerchanEC.Orthopaedicproblemsaboutthe ankleinhemophilia.JFootAnkleSurg.2012;51(6):772–6. 12.LöfqvistT,NilssonIM,PeterssonC.Orthopaedicsurgeryin
hemophilia.20years’experienceinSweden.ClinOrthop RelatRes.1996;332:232–41.
13.MorganteD,PathriaM,SartorisDJ,ResnickD.Subtalarand intertarsaljointinvolvementinhemophiliaandjuvenile chronicarthritis:frequencyanddiagnosticsignificanceof radiographicabnormalities.FootAnkle.1988;9(1):45–8. 14.TsailasPG,WiedelJD.Arthrodesisoftheankleandsubtalar
jointsinpatientswithhaemophilicarthropathy. Haemophilia.2010;16(5):822–31.
15.KnobeK,BerntorpE.Haemophiliaandjointdisease: pathophysiology,evaluation,andmanagement.J Comorbidity.2011;1:51–9.
