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HypermobilitySpectrumDisordersClairA.Francomano,MD
OnbehalfoftheFrameworkforHypermobilityDisordersCommittee
MARCOCASTORI,BRADTINKLE,HOWARDLEVY,RODNEYGRAHAME,FRANSISKAMALFAIT,ANDALANHAKIM
HypermobileEhlers-Danlos Syndrome
JointHypermobilitySyndrome
2009:Tinkleetal.
2014:Castori etal.
2017:Castori etal.Frameworkforclassification
ABriefHistoryofJointHypermobilityandHypermobileEhlers-Danlos Syndrome
…thedelineationofasingleentityarisingasthefull-blownexpressionofthephenotypeincommonbetweenEDS-HTandJHSleaveswithoutan“identity”manyindividualswithsymptomaticjointhypermobility(JH)and/orfeaturesofhEDS,whodonotmeetthestrictercriteriaincorporatedinthenewEDSnosology.Theclassificationofsuchcasesrequiresresolution.
Castori etal.2017
AimsoftheFrameworkPaper
• SummarizetheterminologyofJointHypermobilityandrelateddisorders• PresentthedifferenttypesofJointHypermobility,secondarymusculoskeletalmanifestationsandasimplifiedcategorizationofgeneticsyndromesassociatedwithJointHypermobility• ConsiderthespectrumofsecondarymusculoskeletalmanifestationsandrangeofpleiotropicmanifestationsofsyndromesfeaturingJointHypermobility,notingthatthesearetwoseparatedomainsthatonlypartiallyoverlap
RationaleforanEvolutioninThinking
• Nosologydistinguishingpathogenesisandetiologyisthebackgroundforaclassificationaimedatidentifyingmoreeffectivescientific,therapeutic,andhealthcarestrategies
• ManagementJH-relatedmusculoskeletalmanifestationslikelyrequirehomogeneousrehabilitation/treatmentissuessharedbythedifferentgeneticconditions
• ResearchaclearseparationoftheJHsecondarymusculoskeletalmanifestationsfromtheprimarypleiotropicmanifestationsofEDSmayhelpindissecting theintra-familialandinter-individualvariabilityofhEDS forstudiesaimedatdecipheringitsmolecularbasis
DefiningJointHypermobility
• Jointhypermobility(JH)isthetermuniversallyacceptedtodefinethecapabilitythatajoint(oragroupofjoints)hastomove,passivelyand/oractively,beyondnormallimitsalongphysiologicalaxes.• Hence,JHisadescriptorratherthanadiagnosis.• JHmayexistasanisolateddiagnosticfinding,butisoftenafeatureofalargersyndromicdiagnosis• Synonyms:Jointlaxity,hypermobility,hyperlaxity
MeasuringJointHypermobility
• Useprofessionaltools,suchastheorthopedicgoniometer• Followspecificprocedures(e.g.,[Juul-Kristensenetal.,2007])• Comparethemeasuredrangeofmotion(ROM)withnormalparameters.
TypesofJointHypermobility
• Localized:Involvingalimitednumberofjoints(<5)• Peripheral:Involvingprimarilythesmalljointsofthehandsandfeetwithabsenceoflargeandaxialjointinvolvement• General:Jointhypermobilityat>5sites,includinglargeandaxialjoints• Historical:AhistoryofJointHypermobilitywhichisnolongerpresentonexamination
JointHypermobility JointInstability
• Hypermobilejointsmaybeunstable,butjointinstabilityisnotamandatoryconsequenceofjointhypermobility
• Notallunstablejointsarehypermobile
SecondaryManifestationsofJointHypermobility• Jointhypermobilitymaybeasymptomatic• Thereareaseriesofmusculoskeletalsymptomsandcomplicationsthatmaybeinterpretedassecondarymanifestationsofjointhypermobility• Trauma• Chronicpain• Disturbancesofproprioception
“Occasional and recurrentmusculoskeletal pain is aquite common immediatemanifestation of JH as thenatural consequence ofpredisposition to trauma. Thedevelopment of chronic pain issometimes a long-termcomplication of JH.Preliminary studies suggestthe existence of hyperalgesiaas a possible form of painsensitization in patients withEDS and chronic pain.”
OtherMusculoskeletalTraitsAssociatedwithJointHypermobility
• Pesplanus(flexibletype)• Valgusdeformityofhindfeet,hallucesandelbows• Mildtomoderatescoliosis(>7degrees)• Accentuateddorsalkyphosisandlumbarlordosis• Deformationalplagiocephaly• Reductioninbonemass(maybeapleiotropicgeneticeffect)
DefinitionofaSyndrome
“apatternofanomalies,atleastoneofwhichismorphologic,knownorthoughttobecausally(etiologically)related.”
Hennekam etal,2013
ThepresenceofJHincombinationwithsecondarymusculoskeletalanomaliesdoesnotsufficeforthedelineationofageneticsyndrome.Theappellation“syndromewithJH”shouldberestrictedtogeneticconditionsfeaturingJHtogetherwiththeprimaryinvolvementofatleastasecondtissue/structure(e.g.,skininvolvementinclassicalEDSandhEDS)
Castori etal.,2017
GeneticSyndromeswithJointHypermobility
• TheEhlers-Danlos Syndromes• Manyskeletaldysplasias• Marfan Syndrome• Loeys-DietzSyndrome• Hereditarymyopathies• DownSyndromeandotherchromosomalaneupleudies• Andmanyothers
ClassifyingJointHypermobility
• AsymptomaticpersonswithLocalized,PeripheralorGeneralizedJH• LJH• PJH• GJH
• Personswithawell-definedsyndromeassociatedwithJH• PersonswithsymptomaticJHwhodonotmeetdiagnosticcriteriaforanyotherknownhereditarysyndromeassociatedwithJH• TheHypermobilitySpectrumDisorders
TheHypermobilitySpectrumDisorders(HSD)
• JointHypermobilityplusoneormoresecondarymusculoskeletalmanifestationsofjointhypermobility• Overallclinicalpicturedoesnotmeetthediagnosticcriteriaforanyofthesyndromesassociatedwithjointhypermobility• IntendedasalternativelabelsforindividualswithsymptomaticjointhypermobilitywhodonothaveanyoftheraretypesofEDSanddonotmeetthediagnosticcriteriaforhypermobileEDS.• Also intendedtoidentifydiscretesubtypesfillingthefullgapbetweenasymptomaticJHandhEDS.
TheHypermobilitySpectrumDisorders
• GeneralizedHypermobilitySpectrumDisorder– G-HSD• LocalizedHypermobilitySpectrumDisorder– L-HSD• PeripheralHypermobilitySpectrumDisorder- P-HSD• HistoricalHypermobilitySpectrumDisorder– H-HSD
Extra-ArticularDisordersAssociatedwithGeneralizedJointHypermobility
• Orthostatictachycardia(POTS)• Functionalgastrointestinaldisturbances• Pelvicandbladderdysfunction• Anxiety
Anyofthesemaybeseeninpersonswiththehypermobilityspectrumdisordersandshouldberecognizedandtreatedpromptly
Whatdowecalltheseassociateddisorders?
• Thecommitteefeltthatwedonotyethavesufficientevidencetocalltheseextra-articularmanifestationstruepleiotropicfeaturesofgeneralizedjointhypermobility• Therecommendationisthattheybeconsidered“JointHypermobilityassociatedco-morbidities”• Chronicpain- alateconsequenceofJHoraJH-relatedco-morbidity?Thisisstillamatterofdebateandfurtherresearchisneededtoclarify
GeneticBasisofJH,HSDsandhEDS remainsunknown
• Shouldbeahighprioritytargetforfutureresearchendeavors• Willhelpvalidateandrefinetheexistingdiagnosticcriteria• Shouldguidemorerationaleapproachestomanagementandtherapy