Presentation on theme: "What is Ehlers-Danlos Syndrome? Intro for Fibro Patients"— Presentation transcript:
1 What is Ehlers-Danlos Syndrome? Intro for Fibro Patients Fibro/CFS Support Group MeetingSeptember 20, 2014Portland, OR USAJan Groh, speaker1
2 Who am I? (Jan Groh)47 yo Hypermobile EDS Patient, diagnosed Feb 14, after major onset “cascade” left me wheelchair boundTook 25 years to get diagnosed after being written off as just a depressed woman since 18. Dxed with CFS in 1993I have been observing over 6000 EDS patients daily online via social forums, where I've gathered so much info - trying to share with doctors and the world to help all to recognize soonerLed OR EDS group 2012/2013 inc “mini” ConferenceWorking on a book as we speakI've yet to meet a fibro patient IRL who doesn't pass Brighton DX Criteria for HEDS!2
3 Can you spot young Jan with EDS? Think small! Mini Me (Jan age 11)Can you spot young Jan with EDS? Think small!(Doctors can note the fine lordosis in lower back, plus very bendy elbows. Knees suprisingly straight!)3
4 I could have been a 4th “Ross Sister” as a child.... very bendy! The Ross Sisters in “Solid Potato Salad” numberI could have been a 4th “Ross Sister” as a child.... very bendy!
5 What is Fibromyalgia?Poorly defined / hard to diagnose / somewhat subjectiveCharacterized by widespread pain & fatiguePoor sleepHeadachesDepression & anxietyMultiple Chemical SensitivityMuch more... a lot like a mild Ehlers patient ;)
6 What is Ehlers-Danlos Syndrome? A collection of genetic collagen defects that is NOT RARE, it’s RARELY DIAGNOSED!** depending on who’s talking :)It’s a Heritable Disorder of Connective Tissue (HDTC)It presents in an almost mind-numbing array of ways & rates (as individual as fingerprints)“If you can't connect the issues, think connective tissues!” - unknown6
7 Think zebras, not horses when you hear hoofbeats! BUT! Castori et al cite up to 2% may have some form of EDS nowAlso often “triggered” like fibromyalgia...
8 The 6 Main Types of Ehlers-Danlos Syndrome There is a LOT of cross-over between types, it’s not always easy to distinguish! Please consult a trained medical geneticist if you suspect any type of EDS!There are single tissue markers for these 5 rare types:Dermatosparaxis (DEDS / VII c ) – very rare, skin signArthrochalasia (AEDS / VII a, b) – rare, bilateral hip disloc.Kyphoscoliotic (KEDS / VI) – rare, severe scoliosisVascular (VEDS / IV) – rare, can be lethal from arterial & organ ruptures, thin non-stretchy skin, very visible veinsClassical (CEDS / I & II) – semi-rare, skin signs, scarsLast but not least! No single easy tissue marker test yet for:Hypermobile (HEDS/ III) – common?, joint pain/hypermobilityUse BRIGHTON DIAGNOSTIC CRITERIA (not Beighton!) to DX!8
9 Beighton vs BrightonProfessor Beighton developed the 9 pt epidemiological field test for hypermobility over 20 years ago. Was not meant to be used to diagnose! Use to suspect EDS/HMS only. It misses many patients who are no longer or never were bendy!The Brighton Diagnostic Criteria were adopted in 1999 in Brighton England for this very reason.They help to find non-bendy zebras as well as bendy ones!9
10 You could say we got “Bright” in Brighton England! (All due respect to the good Professor Beighton)10
11 The Brighton (not Beighton The Brighton (not Beighton!) Diagnostic Criteria Use to diagnose BJHS (aka JHS/HMS/EDS III/HEDS)Major Criteria (2)A Beighton score of 4/9 or greater (either currently or historically)Arthralgia for longer than 3 months in 4 or more joints (joint pain)Minor Criteria (8)A Beighton score of 1, 2 or 3/9 (0, 1, 2 or 3 if aged 50+)Arthralgia (joint pain) > 3 months in one to three joints or back pain (> 3 months), spondylosis, spondylolysis/spondylolisthesis.Dislocation/subluxation in more than one joint, or in one joint on more than one occasion.Soft tissue rheumatism. > 3 lesions (e.g. epicondylitis, tenosynovitis, bursitis).Marfanoid habitus (tall, slim, span/height ratio >1.03, upper: lower segment ratio less than 0.89, arachnodactyly [positive Steinberg/wrist signs].Abnormal skin: striae (stripes), hyperextensibility (stretchy), thin skin, papyraceous scarring.Eye signs: drooping eyelids or myopia or antimongoloid slant (almond shaped).Varicose veins or hernia or uterine/rectal prolapse.The BJHS is diagnosed in the presence two major criteria, or one major and two minor criteria, or four minor criteria. Two minor criteria will suffice where there is an unequivocally affected first-degree relative.How you can have EDS without being bendy!11
12 Some. Symptoms We See a Lot Some* Symptoms We See a Lot! * This list is not at all comprehensive – we could list many more. See website.Bones & JointsCardio/DysautonomiaOtherChronic early joint painPoor temp. regulation (+/-)Crowded or weak teethSubluxations (partial disloc)Tachycardia (all variations)Flat feet (fallen arches)“Double jointed”PVC’s, head-rushesThin/stretchy/soft skinDislocationsEarly onset varicose veinsHeadachesTendonitis /bursitisSpider veinsIBS (wet/dry/flips)Spinal issues (all kinds)Enlarged aortic rootsTrouble swallowing/dysphWeak neck, C-C settlingMitral valve prolapseDepression/anxietyKyphosisInsomniaEasy bruisingChondromalacia (patella)Thyroid trouble (+/-)Unusual or keloid scarsSciaticaFrequent urinationHearing trouble/lossOsteopoenia/-porosisAneurysmsFloaters / retinal detach.Bone spursEasy bleedingMyopia (near sightedness)12
13 Some Common EDS Comorbidities Dysautonomia/POTSMigrainesFibromyalgiaChronic Fatigue SyndromeArthritisDiabetesThyroid issues (+/-)Autism SpectrumChiari MalformationTethered CordCranial-Cervical SettlingMood and anxiety disordersAllergies and MCAD (masto/MCAS)Sensory Processing DisorderInsomnia /HyperadrenergiaMS, AS, RA and all other AIsLeaky Gut SyndromeMalabsorption/malnutritionHydrocephalus (LLECH)CVID (chronic infections)ArachnoiditisFibromuscular dysplasia
14 Overlap between Fibromyalgia and Ehlers-Danlos Syndrome ??Common to both:HeadachesWidespread variable chronic painTender / trigger pointsTendonitisChronic fatigue (not always ME)GI distress & IBSNeuralgia & neuropathySkin sensitivitySecondary arthritis & AI disordersInsomnia, hyperadrenergiaBrain fog (neuroinflammation)Depression & anxietyEDS “only”:FAMILY HISTORYSubluxationsDislocationsRupturesTearsBreaks
15 Perhaps it's a matter of degree on an EDS “Spectrum”? Severe enough to “see” clinically (Double allele?)Ehlers-Danlos Syndrome(Start to sublux/dislocate/tear more)Too “mild” to “see” clinically (Single allele?)SeverityFibromyalgia / BJHS/ JHS/ HMS(Chronic widespread pain, few dislocations)Time, Stress & Triggers...
16 E.g. “Frequent urination”: There are often BOTH bio-mechanical (X) AND bio-chemical (Y) causes to MANY of our issues!E.g. “Frequent urination”:Allergies – biochemical (Y)MCAS / Masto reactions – biochemical (Y)Tethered cord – biomechanical (X)Impinged lumbar nerve roots -biomechanical (X)UTIs (X & Y?)Solve for BOTH X & Y !!
17 What Can I Do About It? In consultation with your doctor you might try: Find & eliminate all allergens & triggers as best you canGet checked for nutritional deficiencies inc electrolytes & supplement as appropriate, inc C, Calc, Mag, Zinc, D3Keep blood volume up with water and salt as neededStay as conditioned as possible without injuring! See nextGet appropriate core-strengthening “zebra-friendly” PTManage pain and optimize sleep (helps lower pain)Eat as organic & unprocessed as possibleAvoid triggers, mitigate reactions with H1/H2 blockers17
18 Body work of choice as tolerated: Pilates and/or yoga (careful, do NOT go to full range!)Chiropractic with CARE (AVOID neck thrusts!!)Core-building PT with CARE (same as chiro)Alexander Technique (teaches proper Use of Self)Bowen Therapy / NST (helps re-integrate the body)Gokhale MethodFeldenkraisMassage & Cranio-sacral workMELT methodTENS Units/microstim
19 Mind and spirit are equally crucial: Good sleep and dietCognitive and/or dialectical behavioral therapySupportive talk therapy and a support groupEnergy work – acupuncture or Reiki (or both)Meditation, breathing & spiritual practice of choiceJournaling – and gratitude practice & grief cslng
20 Got Collagen? If not, try an exoskeleton! Talk to Heather first before investing in an exoskeleton!20
21 Thank you to all my supporters! ComForcare Home CareBlanket BoosterMore information:Support:Information:EDNF:EDS Support:EDNF Support forum: