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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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    Sushi that doc you mentioned above who was a co- author of 2011 consensus was also the one who stated in a talk at Me/cfs victoria seminar that "you were born with it (ie ME)" and showed a graphic illustrating a distinct link to Viking populations- which also indicates some kid of genetic link.

    best


    ALly
     
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  2. Shell

    Shell Senior Member

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    I read something on the Viking gene theory ages ago. Can't remember...have a feeling it was from Ramsey or someone jumping off from Ramsey's work. There was a large cluster outbreak in Iceland...sorry can't remember when, but before the CDC got their knickers in a twist in the '80s.
     
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  3. Sushi

    Sushi Moderator and Senior Member Albuquerque

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    Hi Ally,

    Dr. De Meirleir does not mean that you are born with ME. He says in the video above that ME is triggered by an infectious disease and can develop into an automimmue disease if not treated in the infectious stage. He also says that, in his opinion, patients from countries with Viking heritage are more prone genetically to develop autoimmne diseases.

    The key word is develop--meaning that he does feel that one or more genes of viking origin can make you more prone to develop an autoimmune disease. But, you are not born with that disease, you develop it at some time in life--in the case of ME after an infectious illness.

    I am quite familiar with what Dr. De Meirleir has said an written as he is my doctor.

    Sushi
     
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  4. Allyson

    Allyson *****

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    Shell here is another abastract on occular manifestations in EDS

    Ocular features in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type: a clinical and in vivo confocal microscopy study.

    Gharbiya M, Moramarco A, Castori M, Parisi F, Celletti C, Marenco M, Mariani I, Grammatico P, Camerota F.
    Source

    Department of Ophthalmology, Sapienza University, Umberto I Hospital, Rome, Italy. magda.gharbiya@tiscali.it

    Abstract
    ... PURPOSE:
    To investigate ocular anomalies in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT).

    DESIGN:
    Prospective, cross-sectional study.

    METHODS:
    Forty-four eyes of 22 consecutive patients with an established diagnosis of JHS/EDS-HT and 44 eyes of 22 age- and gender-matched control subjects. Administration of a standardized questionnaire (Ocular Surface Disease Index) and a complete ophthalmologic examination, including assessment of best-corrected visual acuity, slit-lamp biomicroscopy, intraocular pressure measurement, indirect ophthalmoscopy, tear-film break-up time, Schirmer I testing, axial length and anterior chamber depth measurement, corneal topography, corneal pachymetry, and confocal microscopy. Main outcome measures included comparing ocular anomalies in JHS/EDS-HT and control eyes.

    RESULTS:
    JHS/EDS-HT patients reported dry eye symptoms more commonly than controls (P < .0001). Scores of tear-film break-up time and Schirmer I test were significantly lower in JHS/EDS-HT eyes (P < .0001). Minor lens opacities were significantly more common in the JHS/EDS-HT group (13.6%; P < .05). Pathologic myopia with abnormal vitreous was found in 7 JHS/EDS-HT eyes (15.9%) and 0 controls (P = .01). Corneas were significantly steeper and the best-fit sphere index was significantly higher in JHS/EDS-HT group (P < .01). By confocal microscopy, the JHS/EDS-HT group showed lower density of cells in the superficial epithelium (P < .001) and higher density of stromal keratocytes in anterior and posterior stroma (P < .0001).


    CONCLUSIONS:
    The most consistent association of eye anomalies in the JHS/EDS-HT group included xerophthalmia, steeper corneas, pathologic myopia, and vitreous abnormalities, as well as a higher rate of minor lens opacities. These findings indicate the need for ophthalmologic survey in the assessment and management of patients with JHS/EDS-HT.
     
  5. Allyson

    Allyson *****

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    ANother EDS artive - thanks TO Janet Kopacz..

    Gastrointestinal Disorders in Patients with Hypermobile or Classical Ehlers-Danlos Syndromes.

    A. Gustafson1, B.F. Griswold2, L. Sloper2, M. Lavallee4, C.A. Francomano3, N.B. McDonnell2
    1) Brown Univ, Providence, RI; 2) LCI, NIA/NIH, Baltimore,MD; 3) GBMC,Baltimore, MD; 4) IUSM, South Bend, IN.

    Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue that are characterized by joint, skin, and vascular abnormalities.

    Most literature reports of gastrointestinal (GI) involvement in EDS have been limited to patients with vascular EDS.

    Patients with vascular EDS have abnormalities of type III collagen, a constituent of the bowel wall, and thus prone to GI complications and bowel rupture.

    Patients with other types of EDS, however, also report GI dysfunction. Complete physicals and medical histories were obtained from 90 patients with hypermobile or classical types of EDS enrolled in the National Institutes... on Aging protocol 2003-086, “Clinical and Molecular Manifestations of Heredity Disorders of Connective Tissue.”


    We found a high prevalence of GI manifestations in this cohort of patients, including severe chronic constipation (17%), irritable bowel syndrome (12%), acid reflux or gastroesophageal reflux disease (14%), and/or chronic abdominal pain (22%). Gastroparesis was noted in four subjects. The prevalence of each of these disorders was significantly higher in our cohort (P<.0001) compared with the general population.
    In our cohort, lack of tissue integrity may cause structural abnormalities, decreased blood vessel wall strength, and/or altered motility or absorption, which may all contribute to development of GI disorders.
     
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  6. Allyson

    Allyson *****

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    @ shell another occular and EDS article abstract

    Title: Brittle Cornea Syndrome and its Delineation from the kyphoscoliotic type of
    Ehlers-Danlos Syndrome (EDS VI): report on 23 patients and review of the literature.
    Authors: Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B
    Date: January 2004

    Publisher: American Journal of Genetics

    Abstract: The brittle cornea syndrome (BCS) is a generalized connective tissue disorder characterized by corneal rupture following only minor trauma, keratoconus or keratoglobus, blue sclerae, hyperelasticity of the skin without execessive fragility, and hypermobility of the joints. Because of the similarities between the BCS and the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VI), both disorders tend to have been confounded. Here, we show that all of our BCS patients tested in this regard had biochemical findings reflective of normal activity, of lysyl hydroxylase, characteristically deficient in EDS VI, such as normal urinary total pyridinoline ratios and/or normal electrophoretic migration of collagen chains produced by dermal fibroblasts. The BCS is, therefore, an entity distinct from the kyphoscoliotic type of EDS, which has a much poorer prognosis.
     
  7. Allyson

    Allyson *****

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    @ shell

    maybe this is useful for your son ? not sure so posting anyway; hope it is some help.

    Download (PDF): Handout for Your Eye Doctor: Eye Care for Patients with Ehlers-Danlos

    Reprinted with kind permission © 2008 Diana Driscoll, O.D., www.TotalEyeCare.net

    Dr. Diana Driscoll
    Therapeutic Optometrist
    DDriscoll@TotalEyeCare.net

    I have Ehlers-Danlos Syndrome Type ___________, which causes defective connective tissue in my collagen. Please be sure to check carefully for the following:

    Epicanthal folds
    High myopia
    Keratoconus
    Blue sclera
    Lens subluxation
    Angioid Streaks
    Cataracts
    Dry eyes
    Glaucoma (with pachymetry for accuracy)
    Photophobia
    Retinal Detachments, holes, tears
    Strabismus
    Macular Degeneration
    Posterior Staphyloma
    Carotid-cavernous sinus fistulas
    Accommodative difficulties
    Dry eyes
    Diplopia, monocular or binocular
    Large phorias which may be symptomatic
    Blepharoclonus
    Recommended Ocular Testing for the Patient With EDS

    Complete slit lamp exam with TBUT. Understand that I may be more prone to corneal dystrophies, dry eyes.
    Dilated fundus exam; fundus photography
    Ocular topography to rule out early keratoconus
    RTA may be needed – Retinal Thickness Analyzer
    Orbscan and/or pachymetry to check corneal thickness
    EDS patients are not good candidates for LASIK.
    Pupil testing (rule out APD), aperture measurements (check for ptosis), rule out blepharoclonus.
    I may be more prone to recurrent corneal erosions ??
    I may be more prone to migraine episodes and/or aura without the migraine headache.
    I may be more prone to macular degeneration
    For more information, please check into www.EDNF.org.
    2008 Diana Driscoll, O.D., www.TotalEyeCare.net




    Articles

    Title: Orbscan mapping in Ehlers-Danlos Syndrome
    Authors: Pesudov, Konrad
    Date: August, 2004
    Publisher: Elsevier
    Citation: Pesudovs, K. 2004 Orbscan mapping in Ehlers-Danlos syndrome, “Journal of Cataract and Refractive Surgery”, Volume 30, No. 8, 1795-8


    Abstract: A candidate for refractive surgery presented with classic (Type 1) Ehlers-Danlos syndrome (EDS). Clinical examination revealed blue sclera, limbus-limbus thinning, myopia, and astigmatism. Orbscan (Bausch & Lomb) pachymetery mapping provided a striking demonstration of the limbus-to-limbus thinning with a central corneal thickness of 360 microm in the right eye and 383 microm in the left eye and midperipheral corneal thickness ranging from 370 to 438 microm and 376 to 434 microm, respectively. Despite the theoretical biomechanical weakness from the thin cornea and defective collagen, regular surface topography was maintained without the development of keratoconus. Although all types of EDS remain a contraindication to laser refractive surgery, Orbscan mapping provides a valuable insight into corneal shape and thickness in this condition.





    Title: Keratoconus and the Ehlers-Danlos Syndrome: a new aspect of keratoconus
    Author: I. Robertson
    Date: May, 1975

    Publisher: Medical Journal of Australia
    Abstract: Hypermobility of the joints is a frequent finding in patients who have keratoconus. Twenty-two of the 44 patients (50%) presenting in 1973 were found to have hypermobility of joints (mainly Ehlers-Danlos syndrome II or mitis type). The significance of this finding is discussed in relation to biochemical defects recently found in corneas with keratoconus. The hypothesis is presented that keratoconus is often a part of a generalized heritable disorder of connective tissue due to a biochemical defect causing a weakness in its structure.



    Title: Joint Hypermobility in Keratoconus
    Author: Woodward EG, Morris MT
    Date: Oct, 1990
    Publisher: Department of Optometry and Visual Science , City University, London,
    UK Ophthalmic Physiological Optometry

    Abstract: There are several reports linking keratoconus and connective tissue disorders, such as Ehlers-Danlos syndrome, osteogenesis imperfecta and mitral valve prolapse, suggesting that keratoconus may be the result of a localized dysfunction in collagen metabolism.

    In view of this the incidence of hypermobility of the joints among a group of patients with keratoconus was compared with a normal (matched) control group. Eighty-four patients were examined using the Beighton modification of the Carter and Wilkinson scoring system. A control group matched for sex, age and ethic group was also assessed. No statistically significant difference between the groups was found for the trunk or knees; a difference was found for the metacarpo-phalyngeal and wrist joints.

    The findings support the theory that keratoconus is a localized manifestation of a mild connective tissue disorder. Also, it can be stated that patients with Keratoconus are five times more likely to show hypermobility of the metacarpo-phalyngeal and wrist joints


    cheers

    Allly
     
  8. Allyson

    Allyson *****

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  9. Allyson

    Allyson *****

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    Shell I saw the people on this fb page all talking of the same issues we have - hard to find docs... docs who don t believe them.... ; PTs who say -" lucky you you can t work"! - People not getting diagnosed til they are in their 30s and 40s.

    Might be of interest for your son.... and they recommend docs too..

    https://www.facebook.com/messages/#!/groups/32353501203/?fref=ts


    best


    Ally
     
  10. Shell

    Shell Senior Member

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    Thanks Ally.
    As things stand I don't want to chase this up just now. He is under the Children's for his eye and my 8 yr old has only just be discharged for her gut issues and frankly they didn't do anything so the trips were pointless.
    My youngest is on the waiting list for a hernia op. As she is a nose licker I wonder about the hernia.
    as EDS is one of those things where not much is known and only the "even a doc couldn't miss 'em" symptoms get noted I think we'll wait it out.

    My friend has three children with a rare, but well documented genetic disorder. The specialist has retired so now her boys are under a general ped. Watching what she goes through makes me want to keep those docs as far away from my family as possible.
     
  11. Allyson

    Allyson *****

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    Hi Shell,

    yes hernias are pretty high on the list of symptoms for EDS - due to the muscle weakness i think.
    As is definitely the transparent skin - there are lots of pics around of that.


    Here from memory are the ones the docs were most interested in - but there are many more due to the widespread nature of connective tissue - it is nearly everywhere in the body. In you or a close family member, and as the gene is affected its manifestation can vary from person to person - that is why i think some can by hypermobile but some aren't .

    asthma allergies excema hernias varicose veins migraines fainting diziness hemorroids hay fever transparent skin that you an see veins through unusual scars (these occur esp on knees and calves) unusual stretch marks reflux IBS diverticulitis aneurysms hypermobile joints positive Gorlin's sign stretchy skin eye issues - lots of CT in the eye, OI/POTS dental crowding - so orthodontic work.

    oh and there are easy bleeding and bruising, petechiae, and also anaesthetic issues so you might want to pre- warn the anaesthetist for your daughter's op. Eg for dental procedures EDSers need more anaesthetic - as i have found i do even for a filling. My sister had a massive post - partum haemorrage and that is pretty common in EDS.

    ( all the more reason for docs to start identifying EDS early)

    yes i quite understand to trouble following it up and whether it worth it. i just posted the info here as i came across it for reference for you and for others who are interested.

    Especially as you are so ill yourself it must be so difficult for you - I think you are just amazing doing what you do already.


    All the best,

    Ally.
     
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  12. Allyson

    Allyson *****

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    oh forgot to mention RSIs, joint pain TMJ ...tiniitus ear blockges ...

    this form EDNF Mark Martino - thanks Mark.

    The temporomandibular joint (TMJ)—the place where the jaw is joined to the skull—can be a source of trouble. Signs of dysfunction are indicated by noise (including clicking and/or crackling); locking or immobility; pain; even tinnitus. For more, see John Mitakides, DDS , "Diagnosis and Treatment of TMJ and Head/Neck Pain for the EDS Patient" at http://bit.ly/KZQN6N

    cheers,

    Ally
     
  13. Allyson

    Allyson *****

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    And I must say it strikes me as being somewhat ironic that 2 people who are both concertedly and vociferously opposing this theory ATM both HAVE actual EDS diagnoses !


    A
     
  14. Allyson

    Allyson *****

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    in form Janet ; do not have the link for further reading sorry


    What genes are related to Ehlers-Danlos syndrome?

    Mutations in the ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB genes cause Ehlers-Danlos syndrome.

    Some of these genes (COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2) provide instructions for making proteins that are used to assemble different types of collagen. Collagens are molecules that give structure and strength to connective tissues throughout the body. Other genes (ADAMTS2, PLOD1, and TNXB) provide instructions for making proteins that process or interact with collagen. Mutations that cause the different forms of Ehlers-Danlos syndrome disrupt the structure, production, or processing of collagen, preventing these molecules from being assembled properly. These defects weaken connective tissues in the skin, bones, and other parts of the body, resulting in the characteristic features of this condition.

    Read more about the ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB genes.
     
  15. Allyson

    Allyson *****

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    thanks to Janet for this

    Display Settings:AbstractSend to:
    Orphanet J Rare Dis. 2013 May 21;8(1):78. [Epub ahead of print]
    Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
    ... Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, López-González V, Mortier G, Nampoothiri S, Petersen MB, De Paepe A.
    Abstract
    BACKGROUND:
    Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos syndrome (EDS)-phenotype.
    METHODS:
    We performed biochemical and molecular analysis of type I (pro-) collagen in a cohort of seven patients referred with a clinical diagnosis of EDS and showing only subtle signs of OI. Transmission electron microscopy of the dermis was available for one patient.
    RESULTS:
    All of these patients harboured a COL1A1 / COL1A2 mutation residing within the most N-terminal part of the type I collagen helix. These mutations affect the rate of type I collagen N-propeptide cleavage and disturb normal collagen fibrillogenesis. Importantly, patients with this type of mutation do not show a typical OI phenotype but mainly present as EDS patients displaying severe joint hyperlaxity, soft and hyperextensible skin, abnormal wound healing, easy bruising, and sometimes signs of arterial fragility. In addition, they show subtle signs of OI including blue sclerae, relatively short stature and osteopenia or fractures.
    CONCLUSION:
    Recognition of this distinct phenotype is important for accurate genetic counselling, clinical management and surveillance, particularly in relation to the potential risk for vascular rupture associated with these mutations. Because these patients present clinical overlap with other EDS subtypes, biochemical collagen analysis is necessary to establish the correct diagnosis.
    PMID: 23692737 [PubMed - as supplied by publisher]
     
  16. VeganMonkey

    VeganMonkey Senior Member

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    Allyson, my CFS/ME specialist referred me to the EDS clinic, they first do a heart ultrasound which I will have in the first week of June and late June I got the appointment. They told me to bring a list of symptoms and illnesses per family member so they can look at the family history. A lot of things I have been reading here sound like me, so I'm glad I finally can get it checked out :) thanks for all the information!
     
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  17. Allyson

    Allyson *****

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    Great to hear tht worked out for you VeganMonkey.

    Suggest you bone up up on symptoms for family members as they really count towards the diagnosis

    the geneticist told me a few had never read about - like dental crowding and orthdontic work tha ti had forgotten all about as i had it done as a teenager.

    abd a brother had diverticulosis and

    and a cousin has congenital arthrogyroposis -and he was really interested in that - i had not thought cousins counted

    Also my slow wound healing, easy bruising, and petechiea that i had wondered about for years. I haveno transucent skin showing veins though - and he asked about that too.

    Great to get some concrete and rational answers that explain these things so you know you are not going crazy, there is a good reason for them all!

    OT but there was Michail mosely show on TV last night that had the most amazing macro macro photography ( or maybe phenomenal grahics) of the inside of the body - showing red blood cells actually being made etc. Brings it all to life and if it is photography they may then be able to us it to show or find defective processes, like CTD disorders.

    Cheers

    Allly


    .
     
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  18. Shell

    Shell Senior Member

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    There's a lot to consider here; I have translucent skin complete with amazing stretch marks: migraine Had 8 teeth out (in one go!!) for overcrowding, have TMJ so badly I can't be intubated so a full GA is not advised for me. Bruise easily, heal sloooooowly. As my children show signs too I will keep an eye out and see when/whether to time a request for EDS testing.
    ...
    There's a lot to think about.
     
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  19. Allyson

    Allyson *****

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    thanks for this reference Merlyg - sorry i overlooked it before.
    Interesting that they say intestinal rupture

    i had a ruptured appendix that went septic - i wonder if that is part of EDS as well

    as far as i know they still do not know the cause of appendicectomy and rupture

    My brother had diverticulitis and that was considered highly significant.

    best and thanks again I am learnig a lot from articles such as these.



    ALly
     
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  20. VeganMonkey

    VeganMonkey Senior Member

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    I got the poor wound healing too, I can get weird scars :( I have some scars from surgery that 'popped open' over time after they healed; not popped open as in bleeding etc but where the scar pulled apart and weird skin grew in it. That skin is very thin and it feels like it's empty underneath. I also got a scar like that from my childhood. Lucky stitching these days is done differently so my newest scars have healed up like normal :) just a thin line. Although my navel has gone weird (hurts and in the inside part is pulling down towards the belly muscle if that makes sense) from it and probably needs to be repaired in some time soonish if it doesn't go back to normal. Could that be from EDS?

    Something I was wondering: I have trouble walking, which is normal for POTSy people of course, but in winter it's much much worse. Big payback time after and sometimes dizzy spells during walking. Are there any things I can do that makes it possible to still go on little walks?
     
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