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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. Allyson

    Allyson *****

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  2. merylg

    merylg Senior Member

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    Ha Allyson that's typical! I didn't watch the movie. I'll delete the post. Thanks.
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  3. Allyson

    Allyson *****

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    no it was not in your pst sorry Meryl - i put it up separately but you are right it was not appropriate so remived it
    basically it was interesting as she had medical info tattood on her arm - POTS OI low BP etc etc all down her arm

    sorry for the mix up and inconveneince
    merylg likes this.
  4. WillowJ

    WillowJ Senior Member

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    yes, that's fine to post on NC or elsewhere.

    It was Gwen Kennedy, not Julia Newton, the arterial finding seems limited to adults. I will fix my other post accordingly. Here are the refs.

    http://www.ncbi.nlm.nih.gov/pubmed/20819963
    http://www.ncbi.nlm.nih.gov/pubmed/18031285
    full text is free

    other than that one paper, I can't find any indication that arterial stiffness is related to CTD in a quick search

    here are a couple of recent papers from Julia Newton, btw
    http://www.ncbi.nlm.nih.gov/pubmed/22273713
    http://www.ncbi.nlm.nih.gov/pubmed/21749371
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  5. Allyson

    Allyson *****

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  6. Allyson

    Allyson *****

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  7. Allyson

    Allyson *****

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    or anyone who is interested in POTS (Postural Orthostatic Tachycardia Syndrome) and learning about what it is in very simple and layperson terms, I can't say enough about this book, written by Jodi Epstein Rhum, and with the medical portion edited by Svetlana Blitshteyn, MD (an exceptional neurologist and POTS specialist in New York). It's called:
    "POTS: Together We Stand, Riding the Waves of Dysautonomia"

    You can get it on amazon.com. For anyone who has POTS, or has a loved one with POTS; also for medical professionals who wish to know what it is, and what life is like for the patients who have to deal with it.

    This book is very important to us, because there's not a lot of information out there about POTS, and we are desperately trying to spread awareness of this debilitating syndrome. Although it is invisible to those looking on, it is very real to those experiencing it. Research has shown that patients with POTS have a quality of life similar to those with congestive heart failure or chronic lung disease.


    A
  8. Sushi

    Sushi Moderator and Senior Member Albuquerque

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    Allyson

    I think the POTS patients would find the information you posted more easily if it were posted in the
    Problems Standing: Orthostatic Intolerance; POTS

    section of the forum.


    Sushi
    Valentijn likes this.
  9. Allyson

    Allyson *****

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  10. Allyson

    Allyson *****

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    I see the news showing they use DNA from 3 people in an embryo to eliminate genetic diosrders - another very good reason to seek an EDS diagnosis if you or yours are thinking of haveing children. Now it will be possible to have children without passing on the faulty EDS genes.


    A
  11. Allyson

    Allyson *****

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  12. merylg

    merylg Senior Member

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  13. Allyson

    Allyson *****

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    I found this list of the 17 types of EDS ( 2013) interesting


    Classi!cation of EDSs.

    Subtype Inheritance Gene(s)

    Major forms

    Classic AD
    COL5A1, COL5A2

    Hypermobility/JHS AD? Mostly unknown

    Vascular AD
    COL3A1

    Kyphoscoliotic AR
    PLOD1

    Arthrochalasia AD
    COL1A1, COL1A2

    Dermatosparaxis AR
    ADAMTS2

    Rare/emerging forms



    Tenascin X-de!cient AR, AD?
    TNXB

    Classic with vascular rupture AD
    COL1A1

    Cardiac-valvular AR
    COL1A2

    EDS/OI overlap AD
    COL1A1, COL1A2

    With periventricular heterotopia XLD
    FMNA

    Musculocontractural AR
    CHST14

    Spondylocheirodysplastic AR
    SLC39A13

    Progeroid AR
    B4GALT7

    Kyphoscoliotic with deafness AR
    FKBP14

    Parodontitis AD Unknown

    Fibronectin-de!cient AR Unknown

    AD: autosomal dominant; AR: autosomal
  14. Allyson

    Allyson *****

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    Someone else with ME has just had his blood volume measured and it was also low and he required urgent trransfusions

    Docs could not understand how he was functioning.....

    Have not heard how low it was yet - awaiting news and will post updates.

    Still waiting on follow up for why I got no treatment or explanation for my low blood volume


    A
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  15. merylg

    merylg Senior Member

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    ISRN Dermatol. 2012; 2012: 751768.
    Published online 2012 November 22. doi: 10.5402/2012/751768
    PMCID: PMC3512326
    Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations

    Marco Castori*

    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512326/?report=classic
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  16. ukxmrv

    ukxmrv Senior Member

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    Did they write a letter to your GP Allyson? I'm wondering if your local hospital would be able to do a saline infusion and if so, who was supposed to be doing it. In the UK I've heard of the A&E Department being asked to do it.
  17. Allyson

    Allyson *****

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    thanks for postig that Meryl!

    this is for @ Mya Symmons - I cannot fnd your post on this topic so hope you see it here"
    http://www.ncbi.nlm.nih.gov/books/NBK1462/

    Bookshelf ID: NBK1462PMID: 20301635




    Ehlers-Danlos Syndrome, Kyphoscoliotic Form



    Synonyms: EDS, Kyphoscoliotic Form; EDS Type VI; EDS VI; Ehlers-Danlos Syndrome Type VI; Lysyl-Hydroxylase Deficiency. Includes: Ehlers-Danlos Syndrome Type VIA, Nevo Syndrome

    Heather N Yeowell, PhD and Beat Steinmann, MD.




     

    Initial Posting: February 2, 2000; Last Update: January 24, 2013.

    Go to:




    Summary



    Disease characteristics. Ehlers-Danlos syndrome (EDS), kyphoscoliotic form (previously known as EDS VI) is a generalized connective tissue disorder characterized by friable, hyperextensible skin, thin scars, and easy bruising; generalized joint laxity; severe muscular hypotonia at birth; progressive scoliosis, present at birth or within the first year of life; and scleral fragility with increased risk of rupture of the globe. Intelligence is normal; life span may be normal, but affected individuals are at risk for rupture of medium-sized arteries and respiratory compromise if kyphoscoliosis is severe.

    Diagnosis/testing. EDS, kyphoscoliotic form is caused by deficient activity of the enzyme procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1, or lysyl hydroxylase 1). The diagnosis of EDS, kyphoscoliotic form relies on the demonstration of a markedly increased ratio of deoxypyridinoline to pyridinoline crosslinks in urine measured by high-performance liquid chromatography (HPLC) (a highly sensitive, specific, and inexpensive test) and/or assay of lysyl hydroxylase enzyme activity in skin fibroblasts. Molecular genetic testing of PLOD1, the only gene in which mutations are known to cause EDS, kyphoscoliotic form, is available.

    Ally
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  18. Allyson

    Allyson *****

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  19. Allyson

    Allyson *****

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  20. Valentijn

    Valentijn Activity Level: 3

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