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Is ME due to Ehlers-Danlos Syndrome "stretchy veins"

Discussion in 'Connective Tissue Disorders/Ehlers-Danlos Syndrome' started by Allyson, Nov 12, 2012.

  1. VeganMonkey

    VeganMonkey Senior Member

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    Allyson, I am going to ask my CFS specialist if he can refer me to an EDS specialist. I will see him the 19th. If he can give me the name of a doctor I will let you know :)
    Allyson likes this.
  2. Allyson

    Allyson *****

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  3. Allyson

    Allyson *****

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    [quote="Valentijn[/quote]

    not sure who posted th genetic info now buther isanother article - not repeated i hope

    Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):17-23.

    ... Molecular genetics in classic Ehlers-Danlos syndrome.

    Malfait F, De Paepe A.

    Source

    Centre for Medical Genetics, Ghent University, Belgium.

    Abstract

    Classic Ehlers-Danlos syndrome is a heritable disorder of connective tissue that is characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility. Mutations in the COL5A1 and the COL5A2 gene, encoding the alpha1 and the alpha2-chain of type V collagen respectively, are identified in approximately 50% of patients with a clinical diagnosis of classic EDS. In approximately one third of patients, the disease is caused by a mutation leading to a non-functional COL5A1 allele, and resulting in haplo-insufficiency of type V collagen. In a smaller proportion of patients, a structural mutation in COL5A1 or COL5A2, resulting in the production of a functionally defective type V collagen protein, is responsible for the phenotype. Inter- and intrafamilial phenotypic variability is observed, but no genotype-phenotype correlations can be made so far. The relatively low mutation detection rate in the COL5A1/A2 genes suggests genetic heterogeneity. Indeed rarely mutations in type I collagen have been identified in patients with classic EDS. Mutations in the gene for tenascin-X have been implicated in an autosomal recessive condition phenotypically overlapping with classic EDS. Several other candidate genes, such as decorin, have emerged from the study of transgenic mouse models with clinical and ultrastructural features reminiscent of classic EDS. However, to date, no human examples have been reported for these mouse models.
  4. Allyson

    Allyson *****

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    CLEVELAND CLINIC AND CTDs

    this clinic has a page mentioning EDS and Marfans treatment half way down including this par:

    Connective tissue provides support to many structures within the body, such as the heart valves, blood vessels (the aorta), eyes, bones, nervous system and lungs; therefore, patients with connective tissue disorders require a multi-disciplinary approach to their care and long-term follow-up.

    http://my.clevelandclinic.org/heart/departments-centers/aorta-center.aspx
  5. Allyson

    Allyson *****

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    and
    yet the problem her Sangroper is that so few people have been diagnosed with EDS yet ( as docs are not looking out for it)
  6. Allyson

    Allyson *****

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    What is Ehlers Danlos Syndrome?
    by Ehlers Danlos Syndrome Awareness Page on fb [ EDNF]

    someone above asked where this quote came from -sorry i should hava acknowledged it at the time
    it is form the page above

    quote repeated here
    People with EDS have a defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein, which acts as a glue in the body, adding strength and elasticity to connective tissue. 80% of the body is collagen. EDS affects every system in the body.
    EDS is a heterogeneous group of heritable connective tissue disorders, characterized by joint hypermobility, skin extensibility and tissue fragility.

    Features of EDS

    Joints
    joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint's normal range); very early onset of osteoarthritis.
    Skin
    soft velvety-like skin; variable skin hyper-extensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing
    Miscellaneous
    chronic, early onset, debilitating musculoskeletal pain, arterial/intestinal/uterine fragility or rupture,scleral fragility, poor muscle tone, mitral valve prolapse, and gum disease.

    Other Complications
    Chronic Pain, Chronic Fatigue, Dysautonomia, Gastrointestinal problems, IBS, Bleeding Problems,
    Blood Pressure problems, Organ prolapse, Headaches, Dizziness, Vertigo, Osteoporosis, Osteoarthritis, Chiari,

    Problems with EDS seem vague and UN-related. Doctors and Patients rarely make the connection that many different complaints are coming from one problem. Many doctors have never heard of EDS and most who have dont understand it, they think it only makes you flexible or gives you strechy skin. Most sufferers go years and even entire lifetimes with no proper diagnosis. It is important to see a geneticist who is educated in conective tissue disorders & ehlers danlos syndrome.

    For more information please visit EDNF.ORG
  7. sandgroper

    sandgroper

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    yes even when i asked about it i was sent off for heart test no confirmation of dx and the cardiologist make some remark about people in circuses and put me though so many useless test...it took 2 years to recover and start over .......and even now that i have the dx it means nothing to anyone, except it helps my sanity

    d abou
    Allyson likes this.
  8. Allyson

    Allyson *****

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    Yes it is really awful Sandgroper, sorry for you....and all of us.
    I suppose we can only hope that with the speed of research and communication increasing and with advances in things like testing and genetics and epi-genetics some good things may still happen in our lifetimes.

    Also there is a groundswell, it seems to me, of medical people who now take these conditions seriously.
    I also think if EDS ME are the same thing or parts of the same illness then combining forces and knowledge will help.
    There are so many pages out there of people all around the world with EDS ME POT and OI that we must reach a critical mass soon.
    (Remember that MS has at least 4 distinct subtypes so we may have that happening here, so the more research the better.)

    Also people are now not taking uninformed dismissals from doctors and are instead researching for themselves and persisting until they get accurate diagnosis and help. If I had stopped at the first doctor I saw - ok the tenth... - I would still think I was not gluten intolerant, not lactose intolrant and had no allergies and no IBS - all those things have now been proven by doctors who were top specialists in those fields and knew the right tests and answers to be able to diagnose them. However I might have stopped when I thought I had coeliac if not for ressearch on the internet wheere I found sites like this with others with the same weird symptoms as me and others who hda done reaerch inoto alot of them.

    I am afraid with our health we just have to persist until we get justice- I have met a 12 year old boy with spine cancer who was sent home from docs and hospitals with just panadeine for a year beforo he got diagnosed, his mother told me (so it was all in his head too). When i met him he was going in for life-saving surgery - I never heard the result.
  9. Allyson

    Allyson *****

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    MUSCULO-CONTRACTURAL EDS ARTICLES - a reason not to call it Hypermobile type

    http://www.bioportfolio.com/resourc...e-former-Eds-Type-Vib-And-Adducted-Thumb.html

    PubMed Articles 10896 Associated PubMed Articles [​IMG]
  10. sandgroper

    sandgroper

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    Its really great that you are persevering and you are right about people no longer accepting being fobbed off. The problem i have is my level of disablity precludes me from following up many of the things I would like to s i am not able to even write to my dr at present (though i am working on it).

    I turn 60 tomorrow so I am not holding my breath for this being resolved in my lifetime but i hope that me finding out about the EDS helps someone in my family (who are studiously avoiding it at present). I hope no one else gets ME....that is really the thing that has taken away my life...i think i could cope with just the EDS and even the POTS but the ME takes away my brain and the ability to exert, so everytime i have a test i crash and relapse. the treatment for EDS i can't do as again i cannot tolerate it.

    So yes..if we can get to the root of the problem and get dx early that would help a lot.
    I did so many things i thought were healthy for me which were not.
    NPDivi and Allyson like this.
  11. merylg

    merylg Senior Member

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  12. Allyson

    Allyson *****

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    Yes thanks so sorry for you Sandgroper; it is very tough for all of us. Yes I also pushed a crashed for year s which i don't think was good ...

    On another sad note this was posted about a recent death of someone at 42 from EDS.... and it has some info about the disease.

    http://www.firstgiving.com/fundraiser/clara-klap/stepsforstevie-1
  13. Allyson

    Allyson *****

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  14. VeganMonkey

    VeganMonkey Senior Member

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    People in circuses? He meant they are ultra flexible and don't have issues? I was diagnosed as hypermobile more than 15 years ago and I thought it was nonsense (like one of the fashionable illnesses that pop up every now and then) because in my opinion being flexible was healthy and being stiff needed to be changed by exercises. As a dancer flexibility was handy, so again I thought it was a good thing (even though I was ill but I didn't know what my illnesses were back then)

    Do if someone gets diagnosed with EDS what is the next step? Is there medication for it?
    Allyson likes this.
  15. PhoenixDown

    PhoenixDown Senior Member

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    I think the biggest help for patients with things like EDS is consideration not medication. There isn't much in terms of medication (some blood pressure stuff for POTS I think), having an accurate diagnosis can mean the different between being treated as if you are seriously hurt/injured and being treated as you're whining over nothing, the latter can cause permanent physical harm to both the body and the brain.
    Allyson likes this.
  16. Marlène

    Marlène Senior Member

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    Edegem, Belgium
    http://www.ncbi.nlm.nih.gov/pubmed/15607555

    Med Hypotheses. 2005;64(2):279-83.
    A novel therapeutic strategy for Ehlers-Danlos syndrome based on nutritional supplements.

    Mantle D, Wilkins RM, Preedy V.
    Source

    Pharma Nord (UK), Telford Court, Morpeth, Northumberland NE61 2DB, UK. pharma.nord4@btconnect.com
    Abstract

    Ehlers-Danlos syndrome is a rare disorder, comprising a group of related inherited disorders of connective tissue, resulting from underlying abnormalities in the synthesis and metabolism of collagen. This proposal is specifically concerned with Ehlers-Danlos syndrome classic type (formerly Types I-III), which is characterized by joint hypermobility and susceptibility to injury/arthritis, skin and vascular problems (including easy bruising, bleeding, varicose veins and poor tissue healing), cardiac mitral valve prolapse, musculo-skeletal problems (myopathy, myalgia, spinal scoliosis, osteoporosis), and susceptibility to periodontitis. No treatment is currently available for this disorder. The novel aspect of this proposal is based on: (i) increasing scientific evidence that nutrition may be a major factor in the pathogenesis of many disorders once thought to result from defective genes alone; (ii) the recognition that many of the symptoms associated with Ehlers-Danlos syndrome are also characteristic of nutritional deficiencies; (iii) the synergistic action within the body of appropriate combinations of nutritional supplements in promoting normal tissue function. We therefore hypothesize that the symptoms associated with Ehlers-Danlos syndrome may be successfully alleviated using a specific (and potentially synergistic) combination of nutritional supplements, comprising calcium, carnitine, coenzyme Q(10), glucosamine, magnesium, methyl sulphonyl methane, pycnogenol, silica, vitamin C, and vitamin K, at dosages which have previously been demonstrated to be effective against the above symptoms in other disorders.

    ----------------

    As you notice, these are the same supplements many ME- and fibro sufferers take as well ...
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  17. Allyson

    Allyson *****

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    I know Phoenix that the thread is long now but there are more tips and ideas for treatment earlier up in the thread.
    I also just posted a few in theis related thread
    http://forums.phoenixrising.me/inde...h-your-nose-to-your-tongue.22292/#post-340852
  18. sandgroper

    sandgroper

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    There is no cure...but for me it helped to understand why i had certain symptoms and use a variety of strategies
    for management of some symptoms. It also explained why i had so many other health problems. I found it helpful to know I had it but its also a bit sad.
  19. sandgroper

    sandgroper

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    fortunately i do not have the vascular type..this is the one the drs seem to know about as the first thing they do when you mention it is get your heart checked
  20. Allyson

    Allyson *****

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    and this is on Mito but has some relvant info for us on dysautonimia and temp regulation

    http://www.mitoaction.org/blog/dysautonomia-body-temperature

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