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Hypermobile EDS in Adults HowardP.Levy,MD,PhD
AssociateProfessor,JohnsHopkinsUniversity
September8,2017
2017EDSGlobalLearningConferenceLasVegas,NV
Disclosures
• Nofinancialorotherconflictsofinterest
Agenda
EnglandandAmericaaretwocountriesseparatedbyacommonlanguage.-GeorgeBernardShaw,orOscarWilde,ornobodyMe:“ShouldIfocusonnuancesofthenewdiagnosSccriteriaoronmanagement?”Lara:“Yes”
Revised Diagnos;c Criteria: Why • GeneScheterogeneity• “Tighter”criteriashouldhelpfindtheunderlyinggene(s)
• Otherdiagnosesmayexist• Managementmaydiffer• Don’tendthe“diagnosScodyssey”prematurely
• Risk(further)lossofcredibilityifcriteriaaretoolax
Revised Diagnos;c Criteria • PrioriSzespecificityoversensiSvity• SomeEDScasesmaybefalselyexcluded• LessriskoffalselyincludingthosewithoutEDS
• HypermobilitySpectrumDisorder(HSD)• Not“normal”butnotclearlyhEDS
• Expectfurtherrevisionsa`ergenesarefound• Some(notall)HSDeventuallyreclassifiedasEDS
Diagnos;c Criteria: Excluded Features Toonon-specificorinsufficientlystudied• Sleepdisturbance&faSgue• PosturalorthostaSctachycardia• FuncSonalgastrointesSnaldisorders• Dysautonomia• Anxiety&depression• Chiari&tetheredcord• MastcelldysfuncSon
Diagnos;c Criteria: Defining hEDS hEDS is a heritable connec;ve ;ssue disorder • Heritable• Familyhistory
• ConnecSveSssue• Generalizedjointhypermobility• SystemicconnecSveSssueinvolvement
• Disorder• FuncSonalmusculoskeletalconsequences
Diagnos;c Criteria: Defining hEDS hEDS is a heritable connec;ve ;ssue disorder Diagnosisrequiresall3:• GeneralizedJointHypermobility(connecSveSssue)• Atleast2of…• SystemicconnecSveSssuemanifestaSons(connecSveSssue)• PosiSvefamilyhistoryina1stdegreerelaSve(heritable)• MusculoskeletalcomplicaSons(disorder)
• Exclusionofotherdiagnoses
hips://www.ehlers-danlos.com/heds-diagnosSc-checklist/
Generalized Joint Hypermobility
Generalized Joint Hypermobility Beightonscore--Standardizedandstrictcriteria:• Palm&forearmresSngflat&elbowflexed90°.Does5thmetacarpal-phalangealjointextend>90°?• Armoutstretched&handpronated.Canthumbcanbepassivelytouchedtotheforearm?• Armtoside&handsupine.Doeselbowextend>10°(ideallyusegoniometer)?• Standingwithkneeslocked.Doeskneeextend>10°(ideallyusegoniometer)?• Standingwithkneeslocked&feettogether.Canbothtotalpalmstouchflattofloorjustinfrontofthefeet?
Generalized Joint Hypermobility
Beightonscore• Standardizedandstrictcriteria• Age-relatedcut-offs
• Veryyoung?• Late40s/early50s?
Pre-puberty Pubertytoage50 Beyondage50
6 5 4
Generalized Joint Hypermobility IfBeightonscorenotfullyassessedor1belowcut-off• SubjecSvejointexam?• ToosubjecSvetobeincludedatthispoint
• 5PointQuesSonnaire• 2ormoreoutof5“yes”• 80–90%specific(10-20%falseposiSve)• Notvalidatedinchildren
WesSllneedbeierassessmenttools
Systemic Connec;ve Tissue Manifesta;ons
Systemic Connec;ve Tissue Manifesta;ons • Unusuallyso`/velvetyskin• SubjecSve;highthresholdrecommended
• Mildskinhyperextensibility• Volarforearm• 1.5-2cm
• Unexplainedstriae• Nosignificantweightgain/loss• Adolescents,menorprepubertalwomen
Systemic Connec;ve Tissue Manifesta;ons • RecurrentormulSpleabdominalhernias• Nothiatalhernia
• Atrophicscarring• Atleasttwosites• MilderthancEDS
• Pelvicprolapse• Children,menornever-pregnantwomen• Withoutobesityorothercause
Systemic Connec;ve Tissue Manifesta;ons
• Dentalcrowdingandhighornarrowpalate• Includeshistoricalifcorrected• MustbebothcrowdingANDhighornarrowpalate
• Totalof12possible• 5ormoretobeconsideredposiSve• Expectfurtherrevisionsa`ergenesarefound
Posi;ve Family History
• 1stdegreerelaSvesonly• Autosomaldominantinheritance
• MustindependentlymeetcurrentcriteriaforhEDS• Priorcriteriadon’tcount• HSDdoesn’tcount
Jointlaxity(andmanyotherthings)canruninthefamilywithoutbeinghEDS.
Musculoskeletal Complica;ons Atleastoneof…• Dailypainin2ormorelimbs(arm/leg)for3+months• Chronic,widespreadpainfor3+months• Recurrent,atraumaScjointdislocaSonsorfrankinstability• 3+dislocaSonsinthesamejointor2+dislocaSonsin2differentjoints• Medicallyconfirmedjointinstabilityat2+sites• Instability/dislocaSoniscommon&normala`ertrauma• DislocaSon=boneoutofnormalposiSonsufficientlyseveretolimitmoSonofthejointandrequiringmanualreducSon
Exclusion of Other Diagnoses • SkinfragilityàothertypesofEDS• OtherheritableandacquiredconnecSveSssuedisorders• IfautoimmunerheumatologiccondiSon(e.g.lupus,rheumatoidarthriSs),donotcountpainorjointinstabilitytowardshEDSdiagnosis
• OthercondiSonsthatmaycauseconnecSveSssuelaxityand/orreducedmuscletone
My Prac;ce: March 1 – August 31
EDS39%
NotEDS11%
NotHCTD44%
OtherHCTD6%
2015
EDS25%
NotEDS25%
NotHCTD50%
2016
EDS30%
HSD32%
NotHCTD38%
2017
My Prac;ce: March 1 – August 31 Prior years re-interpreted
EDS32%
NotEDS18%
NotHCTD47%
OtherHCTD3%
2015-16Original
EDS25%
HSD22%
Uncertain3%
NotHCTD47%
OtherHCTD3%
2015-16Re-interpreted
My Prac;ce: March 1 – August 31 Prior years re-interpreted
EDS25%
HSD22%
Uncertain3%
NotHCTD47%
OtherHCTD3%
2015-16Re-interpretedEDS
Original Re-interpreted Changes
Hypermobile 91% 77% ToHSD
Classical 9% 0% TohEDS
HSD 0% 18% FromhEDS
NotHCTD 0% 5% hEDStoPsoriaScArthriSs
My Prac;ce: March 1 – August 31 Prior years re-interpreted
EDS25%
HSD22%
Uncertain3%
NotHCTD47%
OtherHCTD3%
2015-16Re-interpretedHSD
Original Re-interpreted Comment
NotEDS 71% 0% ToHSD&Uncertain
HSD 0% 88% Fromallothers
hEDS 24% 0% ToHSD
NotHCTD 6% 0% ToHSD
Uncertain 0% 12% FromNotEDS
My Prac;ce: March 1 – August 31 3 Years Pooled
EDS26%
HSD26%Uncertain
2%
NotHCTD44%
OtherHCTD2%
2015-2017Pooled
NotHCTD
Autoimmune/Rheumatologic 9%
Neuromuscular(includingmitochondrial) 18%
OsteoarthriSs/SpinalStenosis 16%
Painorother 58%
Natural History/Manifesta;ons: 3 Phases Highlyvariable;nottrueforeveryone• Hypermobility• Laxity&instabilityexceedspain.SomefaSgue.
• Pain• Increasingpain,“fibromyalgia,”increasingfaSgue.• Othersystemicinvolvement.
• SSffness• Reducedmobility,furtherincreaseinpain&faSgue.
Natural History/Manifesta;ons: Pain Acute&Chronic• NocicepSve(affectedmuscles,joints,&connecSveSssue)• Neuropathic• PotenSalcauses:• Muscle/tendon/connecSveSssuespasm• Traumaduetojointinstability• Nerveentrapment• OsteoarthriSs• CentralsensiSzaSon&generalizedhyperalgesia
Natural History/Manifesta;ons: Skin & Fascia MuchmilderthanothertypesofEDS• So`• Hyperextensible• Fragile• Atrophicscars• Stretchmarks• CSFleaks?(literatureismixed)• Hernias
Natural History/Manifesta;ons: Fa;gue • Physical&mental• CanbedebilitaSng• ComplexinteracSonswith• Pain• Sleepdisturbance• Dysautonomia• MedicaSons&allergies• Psychologicaldistress• OthercomplicaSons
Natural History/Manifesta;ons: Heart & GI
Cardiovascular• MildaorScrootdilaSon• POTS,NeurallyMediatedHypotension,OrthostaScIntolerance• Mitralvalveprolapse?(literatureismixed)
GastrointesSnal• GERD,heartburn,bloaSng• Abdominalpain• IBS,diarrhea,consSpaSon,defecatorydysfuncSon
Natural History/Manifesta;ons: Headache • Migraines• Tensionheadaches• Cervical&craniocervicalinstability?CSFleak?• POTS/NMH• MedicaSons&reboundheadache• TemporomandibularJointDysfuncSon(TMD)• WithrelatedsecondarycomplicaSons
Natural History/Manifesta;ons: Pregnancy • Increasedlaxity• Rapidlabor• VariablesystemicmanifestaSons(pain,GI,etc)• 40%worse,47%stable,13%improved
• Nodocumentedeffecton• Pretermbirthormiscarriage• FerSlity• Bleeding• Outcomesofvaginalvs.Caesareandelivery
Natural History/Manifesta;ons: Psychiatric • Depression,anxiety&affecSvedisorder• Lowself-confidence• NegaSvethinking• HopelessnessanddesperaSon• Avoidancebehavior• ExacerbaSonofdysfuncSonanddisability• MarginalizaSon• Resentment,distrust,andhosSlitybetweenpaSent,family,andhealthcareteam
Management • I’mprobablyovermyalloiedSmealready.• NothingdrasScallychangedsincelastyear.• Seehip://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31538/full• Aiendalloftheothersessionsatthisconference!