ehlers danlos syndrome: recognition, diagnosis & management

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Ehlers Danlos Syndrome: Recognition, Diagnosis & Management. Howard P. Levy, M.D., Ph.D. Assistant Professor, Johns Hopkins University Johns Hopkins Adolescent Medicine Grand Rounds Baltimore, MD October 12, 2012. Disclosures. No relevant financial relationships - PowerPoint PPT Presentation

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Hypermobility Syndromes: Common But Often Overlooked

Ehlers Danlos Syndrome: Recognition, Diagnosis & ManagementHoward P. Levy, M.D., Ph.D.Assistant Professor, Johns Hopkins UniversityJohns Hopkins Adolescent Medicine Grand RoundsBaltimore, MDOctober 12, 2012

DisclosuresNo relevant financial relationshipsI will discuss non-FDA labeled use of the following medications:Tricyclic antidepressants for neuropathic painSNRI antidepressants for neuropathic painAnti-seizure medications for neuropathic painLearning ObjectivesRecognize features of EDSInitiate appropriate evaluationUnderstand activity and other management recommendations

Case 1: 18 yo Girl With Knee Pain & Instability5-6 yrs bilat knee pain & patellar instabilityFailed:steroid & Synvisc injectionsdebridement, chondroplasties, plication, synovectomy, lateral release, osteotomies, ligament reconstruction (11 total procedures)aquatic resistance exerciseGave up lacrosse, soccer, horse ridingEasy bruising, no other skin sxsCase 1: ExamPalate: normalTender paralumbar spasmLaxity in all jointsPes planusBeighton score 8/9Skin normalCase 2: 32 yo Man With Left Shoulder PainAcute onset weightlifting 1 year priorImproves w/rest; recurs w/weightliftingAlso pain in forearms & kneesNo subluxations/dislocationsFailed resistance bands & light weightsEasy bruising, prolonged bleedingFatigue on/off x 15 years

Case 2: ExamPalate: high, narrow, intactTender left trapezius spasmLaxityShoulders, elbows, wrists, fingersLeft knee only (muscular, especially LE)Pes planusBeighton score 8/9Skin normalCase 3: 15 yo Girl With Shoulder Pain & Instability10 months of pain w/push upssubluxation w/swimmingHip subluxation (spont vs. traumatic?)Gave up volleyballContinues to tolerate swimming, cross-country, and track

Case 3: ExamPalate: normalTender paralumbar spasmLaxitymoderate in shoulders; mild in wrists/fingersnone elsewhereBeighton score 2/9 (thumbs only)Skin normalDiagnosesCase 1: Ehlers Danlos Hypermobility TypeCase 2: Ehlers Danlos Hypermobility TypeCase 3: Isolated shoulder pain/instabilityEhlers Danlos SyndromeHYPERMOBILITY TYPE (III)Joint laxityPain (arthralgia, myalgia, headache)FatigueWorse with resistance & activityHigh narrow palate/dental crowdingEasy bruising, mildly soft skinEhlers Danlos SyndromesHeritable disorders of connective tissueCollagenPrevalence 1:5000? (probably more common)Ehlers Danlos SyndromesJoint laxitySoft skinEasy bruisabilityHigh narrow palateGastritis & IBSPOTS & NMH

EDS Types

EDS: Revised Nosology Beighton et al, Am J Med Genet (1998) 77:31-37TYPEOLD #PATTERNHypermobilityIIIAutosomal DominantClassicalI & IIVascularIVArthrochalasiaVIIA & BKyphoscoliosisVIAutosomal RecessiveDermatosparaxisVIICEDS: Hypermobility (III)Benign Joint Hypermobility Syndrome1Joint laxitySoft skinEasy bruisabilityLeast severe, BUT paindisabilityAutosomal dominantGenetic cause unknown1. Tinkle et al. Am J Med Genet A. 2009;149A:236870Assessing Joint LaxitySubjectiveROMHyperextensionLateral instabilityA/P instabilityVarus/valgusTelescopingObjectiveBeighton Scale19 possible points+ = 5 or more Doesnt assess all jointsNot Gold Std1. Beighton et al. Ann Rheum Dis. 1973;32:4138 Beighton Scale

Palms to floor, knees straight: 1 point

Beighton ScaleHyperextend elbow >10o: 1 point each

Radial StyloidLateral Humeral EpicondyleHumeral Head

Beighton ScaleHyperextend knee >10o: 1 point eachLateral MalleolusLateral Femoral CondyleGreater TrochanterBeighton Scale

Dorsiflex 5th finger >90o: 1 point each

Appose thumb to forearm: 1 point eachAssessing Joint LaxityCaveatsAgeYoung children: looseOlder adults: stiffSex: Female looser than maleTrauma/DJD/SurgeryMuscle tone or bulkGuardingEDS: Classical (I & II)All features of Hypermobility TypeMore severe skin and soft tissueAutosomal DominantType 5 collagen in 50% of pts 90-95% w/stricter clinical criteria1Clinical DNA test availableclinical utility?1. Symoens et al. Hum Mutat. 2012; 33:14851493 Very soft, sometimes doughyHyperelasticityAvoid loose skinVolar wrist normal ~1 cmEDS: Classical - Skin

Very soft, sometimes doughyHyperelasticitySkin fragilityExtensor surfacesEDS: Classical - SkinMolluscoid pseudotumorThickenedHyperpigmentedElbowsKnees

Atrophic ScarsEDS: Classical - Skin

EDS: Classical Soft TissueWound dehiscenceSoft tissue fragility (wet toilet paper)Ligaments & TendonsRarely vascular tearsEDS: Vascular (IV)Joint laxity Small >> large Wrists, fingers, ankles, toesEDS: Vascular (IV)Joint laxity Fragile skinThin translucent skin

EDS: Vascular (IV)Wound dehiscenceDissection/ruptureArteriesIntestineUterus TendonsSome never dissect/rupture80% of 1st events ages 10-39EDS: Vascular (IV)Autosomal DominantType 3 Collagen (100% of pts.)Skin, vessels, hollow organsClinical DNA sequencingBiochemical assay from skin fibroblasts also availableDifferential Dx: Joint Laxity

WWW.OMIM.ORGDifferential Dx: Joint LaxityMarfanLoeys-DietzSticklerFragile XTurnerDozens other than EDSDiagnostic Work-upJoint & skin examEcho (diff dx & clinical mgmt)Aortic root dilation (up to 1/3 patients)Other abnormalitiesOphtho if suspect Marfan or SticklerGenetics consultation ManagementWhat We KnowLaxity & instabilityPainout of proportion to exam/x-raysFatigueOsteoarthritis (DJD)What We Dont KnowWhy?Working HypothesisLaxityFrequent minor subluxationsReflexive muscle spasmOsteoarthritisPainFatigueWorking HypothesisLaxityFrequent minor subluxationsReflexive muscle spasmOsteoarthritisPainFatigueJoint InstabilityMUSCLE TONINGStrength: A source of power or forceTone: The normal state of elastic tension or partial contraction in resting musclesIncreased strength can sublux the jointsIncreased tone can improve joint stability

Resistance is Useless -Vogon guard, The Hitchhiker's Guide to the Galaxy, Douglas AdamsAvoid (minimize)HyperextensionImpactResistanceCaution WithElastic bandsIsometricsWeightsToning ExerciseLow or non-resistance exerciseWalking, Elliptical, BicycleSwimming/AquatherapyROMAdd repetitions, duration & frequencyStart low, go slowLong horizonMonths to stop getting worseYears to start getting betterJoint InstabilityExternal bracing when neededJoint stabilizing surgery?Increased rate of immediate & short-term failure1,2Soft tissue fragility & wound dehiscence in Classical & Vascular EDSRombaut et al. Arch Phys Med Rehabil. 2011;92:110612Rose et al. J Arthroplasty. 2004;19:1906Working HypothesisLaxityFrequent minor subluxationsReflexive muscle spasmOsteoarthritisPainFatigueMuscle SpasmMyofascial releaseHeat, massage, TENS, acupunctureHours-days of reliefSpecial mattressWater, air, viscoelastic foamMedicationsSkeletal muscle relaxersBenzodiazepines (caution)

Working HypothesisLaxityFrequent minor subluxationsReflexive muscle spasmOsteoarthritisPainFatiguePain: Etiology?Myofascial spasm?aching, throbbing, tightNeuropathic?burning, tingling, electricDJD?dull, aching, throbbingPain: Passive & Mechanical TherapyMyofascial release: ice, heat, massage, acupuncture/pressure, u/s, TENSNerve blocks, joint/bursa injectionsLimited benefit; cant repeat indefinitelyImplantable stimulatorsOther? (individualized therapy)Pain: MedicationAnalgesics & Anti-inflammatoriesAcetaminophen, NSAIDs,TramadolTransdermal lidocaineMuscle RelaxersNeuropathic pain controlTricyclics, SNRIs, Anti-seizureOpioidslast resort

Pain: MedicationCocktail of multiple medicationsScheduled, preventive medication more effective than as-neededGoal is to limit, but not eliminate painPain management specialistsPain: Psychology90% of the game is half mental -Yogi BerraThe underlying problems are realBut pain is a subjective experienceEmotional StateGoals and expectationsFearsAvoidance, disability, isolationothersEmotional StateCommon in EDS:Anxiety & DepressionLow self-confidenceNegative thinkingHopeless/helplessDesperationLow self-efficacyBaeza-Velasco et al (2011) Rheumatol Int. 31:1131; Branson et al (2011) Harv Rev Psychiatry 19:259; Castori et al(2010) Am J Med Genet A. 152A:556; Hagberg et al (2004) Orthod Craniofac Res. 7:178; Rombaut et al (2011) Arthritis Rheum. 63:1979

Expectation ManagementHigh BarNo painNo dislocations or subluxationsNormal activity tolerance

Low BarLess painFewer dislocation or subluxationsImproved activity tolerancePain: Psychological TxRelationships with healthcare providers. Clinician must validate symptoms as realPatient must trust that psych components play a roleCounselingDepression, anxietyAccepting & coping w/pain & dysfunctionCognitive Behavioral Therapy, conscious relaxation, hypnosis, meditationResourceswww.genereviews.orgclinically oriented reviewswww.omim.orgencyclopedic genetic catalogwww.ednf.orgpatient support groupAdditional References & InformationLevy, GeneReviews, 2012http://www.ncbi.nlm.nih.gov/books/NBK1279/#eds3

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