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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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    Wow I have never heardof it - thanks

    so it gets them moving a bit helps with crashes ?

    Are there any threads on the forum about it please - or how did you find out about it?

    I would like to spread that work here
    There are a lot of us here want to try IV s but noone will gie them to us.

    Does it get them up to mormal funtion for a day or two with no crsh ? that might be wha t i woudl expect.....uninformed guess - and big hope !

    Best,

    Ally
     
  2. newearth

    newearth

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    Hey Ally thanks for explaining!

    Hhmmm I did have some dodgy bloods and went to a haematologist..there was something to do with size of red blood cells (larger than normal) and homocysteine was out?? (cant remember exactly and not sure I have the results to go to back to ) but she wasnt really bothered. And have never been tested since.

    Just to throw a curve in here...and wonder if anyone else has ever had....but when this all first started my old rheumy did an SPEP test (serum protein electrophoresis) which measures protein in your blood. Mine have been consistently off (5 times) but again no explanation. Rheumy explained it as "excess antibodies produced in bone marrow" ??? Its not a usual test and have never found anyone else who had this to compare with but wonder if it has anything to do with all this?

    Anyway I hope you get treatment with IV...sounds like it could help a lot. My friend has POTS and she has regular IV fluids in hospital and over here in AUS it is a case of going to ED (for her) when its bad. She usually spends the night or just a few hours until she is good again.

    Newearth :)
     
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  3. Allyson

    Allyson *****

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    Surgical Failures: Is It the Surgeon or the Patient? The All too Often Missed Diagnosis ofEhlers-Danlos Syndrome.
    Am Surg. 2013 Jun;79(6):608-13.
    Surgical Failures: Is It the Surgeon or the Patient? The All too Often Missed Diagnosis ofEhlers-Danlos Syndrome.
    Fogel S.
    ...
    Source
    Department of Surgery, Virginia Tech Carilion School of Medicine, Roanoke, Virginia, USA.
    Abstract
    Ehlers-Danlos syndrome (EDS) is a closely related group of disorders caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. It has been estimated to occur in between one in 2500 and one in 5000 individuals but likely occurs more frequently than reported. EDS has probably been seen by all general surgeons several times over the course of a career. The purpose of this report is to describe the findings that should raise the index of suspicion, to aid in the diagnosis, and to characterize the general surgical procedures seen in patients with EDS by reviewing a single surgeon's experience in managing such patients with a review of the literature.

    Recommendations for treatment are given. A retrospective review of the experience of a single surgeon of 25 procedures in 15 patients with EDS is being reported. This is believed to be the largest series by one surgeon as yet reported. There was a wide variety of procedures performed, including ventral hernia repair (n = 6), inguinal hernia repair (n = 4), colectomy (n = 3), anal fistula (n = 3), and one each of an exploratory laparotomy, an appendectomy, a closure of a dehiscence, a Hickman catheter placement, an open lysis of adhesions for small bowel obstruction (SBO), a laparoscopic lysis of adhesions for SBO, an open cholecystectomy, a laparoscopic cholecystectomy, and an excision of a round ligament endometrioma. There was only one death, which was in a patient with Type IV EDS who was the first patient in this series. He presented with a spontaneous sigmoid perforation treated by Hartmann procedure and went on to develop two more colon perforations and to die of sepsis. The morbidity included only two recurrent ventral hernias, a wound dehiscence, a wound hematoma, and recurrence of the anal fistula. Although patients with EDS pose significant healing problems, successful general surgical procedures can be performed in most patients.

    Among other recommendations, total avoidance of colon anastomoses and colostomies in favor of total abdominal colectomy and ileostomy and routine closure of the abdominal wall with mesh or retention sutures is advocated. Making the diagnosis is the key to having successful outcomes. Further recommendations on avoiding operation and on the conduct of the operation, if needed, are given.
    PMID:
    23711271 [PubMed - in process]
    http://www.ncbi.nlm.nih.gov/pubmed/23711271



    A
     
  4. Sushi

    Sushi Moderator and Senior Member Albuquerque

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    Yes it helps with many of the dysautonomia symptoms--standing, mental clarity, stamina.

    My autonomic specialist gives standing orders at a hospital IV clinic for his patients to get saline IV's. It has been discussed a lot here and in the Dinet forum. I first learned about it with the sudden onset of OI in 2006.

    I have one friend whose cardiologist prescribes them and she gets them at a hospital infusion center. My doctor will give them on request.

    But I have heard that it is harder to get them in Aust. Here, it is a "known" first line treatment for dysautonomia but you do have to find doctors willing to prescribe them.
     
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  5. Allyson

    Allyson *****

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    Thanks Sushi - so do you get them?If so hwo often and do they help?

    Many thanks


    Ally
     
  6. Sushi

    Sushi Moderator and Senior Member Albuquerque

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    Hi,

    I don't seem to need them myself but some of my friends get them twice a week, and yes they do seem to help a lot.

    Sushi
     
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  7. Allyson

    Allyson *****

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  8. Allyson

    Allyson *****

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    Marfans syndroe is somehow genetically connected to EDS it is thought - it may be in the same family

    Janet Kopacz
    [Detection of pathogenic mutations in Marfan syndrome by targeted next-generation semiconductor sequencing].
    [Article in Chinese]
    Lu C, Wu W, Xiao J, Meng Y, Zhang S, Zhang X.
    Source
    McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, P.R.China. xuezhang@pumc.edu.cn; shuyangzhang@yahoo.com.cn.
    ... Abstract
    OBJECTIVE:
    To detect pathogenic mutations in Marfan syndrome (MFS) using an Ion Torrent Personal Genome Machine (PGM) and to validate the result of targeted next-generation semiconductor sequencing for the diagnosis of genetic disorders.
    METHODS:
    Peripheral blood samples were collected from three MFS patients and a normal control with informed consent. Genomic DNA was isolated by standard method and then subjected to targeted sequencing using an Ion Ampliseq(TM) Inherited Disease Panel. Three multiplex PCR reactions were carried out to amplify the coding exons of 328 genes including FBN1, TGFBR1 and TGFBR2. DNA fragments from different samples were ligated with barcoded sequencing adaptors. Template preparation and emulsion PCR, and Ion Sphere Particles enrichment were carried out using an Ion One Touch system. The ion sphere particles were sequenced on a 318 chip using the PGM platform. Data from the PGM runs were processed using an Ion Torrent Suite 3.2 software to generate sequence reads. After sequence alignment and extraction of SNPs and indels, all the variants were filtered against dbSNP137. DNA sequences were visualized with an Integrated Genomics Viewer. The most likely disease-causing variants were analyzed by Sanger sequencing.
    RESULTS:
    The PGM sequencing has yielded an output of 855.80 Mb, with a > 100 × median sequencing depth and a coverage of > 98% for the targeted regions in all the four samples. After data analysis and database filtering, one known missense mutation (p.E1811K) and two novel premature termination mutations (p.E2264X and p.L871FfsX23) in the FBN1 gene were identified in the three MFS patients. All mutations were verified by conventional Sanger sequencing.
    CONCLUSION:
    Pathogenic FBN1 mutations have been identified in all patients with MFS, indicating that the targeted next-generation sequencing on the PGM sequencers can be applied for accurate and high-throughput testing of genetic disorders.
     
  9. Allyson

    Allyson *****

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  10. Allyson

    Allyson *****

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    Sorry Esther that I had missed this post so only just answering now

    "Someone having EDS and POTS could certainly lead to them having the symptoms of, and being diagnosed with, ME."

    yes that is what I am asking - how may of us ahve been misdiagnosed?


    There have been studies looking at connective studies and CFS, and while the results varied,none of them were even near 50%. I think one study even found that connective tissue disorders were not more common in CFS than in the general population.

    Yes but how do you diagnose a connective tissue disorder?

    How many people in the geeneral polulaation have unciagnosed CTD - or ME /cfs for that matter?

    Many of these diagnoses may have been missed. My mother was ill all her life but never got any diagnosis at all and I know a lot of people are like that. Most people outside the family never knew she was ill as "she did not look sick" lol when she was well enough to get up. Inside the family we just thought she was in bed all the time....

    It may not be until genetic testing is at a level to test these conditions that we get some clear answers to things like these, meantime I am asking people to consider their symtoms in a new light - just to think about it ...that is all.

    best and thank for the consideration

    Ally

    A
     
  11. Allyson

    Allyson *****

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    Just saw this - Hmm

    EDS DOES really slip under the radar - let s hope not for another 340 years this time !

    Ehlers-Danlos syndrome is a group of different inherited diseases caused by various defects of collagen metabolism

    From the description of the first patient by van Meckeren in 1682, it had to pass over 200 years until Ehlers and Danlos published their works and disease called from their names was identified.

    best regards,

    Ally
     
  12. Allyson

    Allyson *****

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    Yes Mish Mash and i notice inthe 2011 EDS ocnfernce notes Ahima posted earllier
    https://www.edsers.com/2011_Conference_Notes.html

    that the collaagen in certain areas lessens - so the aorta may start out OK but weaken with time as less coolagen is in it - for whatever reason.
    This is why EDS ers are advise dot get a cardiac ultrasound every 5 years.

    This could thus explain why symptoms seem to appear "out of the blue" for some reason
    the same reason say tha t sin wrinkles and marks appear over time in the general population.

    an also why EDSers ten dot getw worse as they get older.

    CHeers

    Ally
     
  13. Valentijn

    Valentijn Activity Level: 3

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    Thought by whom? The paper doesn't seem to be talking about EDS, and the genes studied aren't the ones involved in EDS (COL5A1, COL5A2, COL1A1, COL1A2, COL3A1, TNXB, PLOD1, ZNF469, ADAMST2, FLNA, B4GALT7, and SLC39A13).

    I've been looking at the SNPs on the genes in the more common forms of EDS, and it's pretty interesting how homozygous the population is in general on those genes - very few common variations on any of the SNPs, and quite a lot of SNPs where 1% or less of the population has a variation - some with literally 0%.

    Anyhow, I'm looking at creating an SNP panel for the EDS types, based on 23andME data. It's taking a while though, since there are so many distinct types with different genes involved. And even though the genes are well known, there hasn't been much research into associating specific SNPs with EDS.
     
  14. newearth

    newearth

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    I just got this via email and thought it was very interesting re JHS and mentions linked diseases (although it is known that JHS or HMS is only ONE type of EDS) but this article just talks about JHS. I am pleased because this now means that it is starting to become more recognised (doctors/health professionals read/are members of the Medical Observer. Hope the link works!!

    http://www.medicalobserver.com.au/n...oftware&utm_term=Joint hypermobility syndrome
     
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  15. Allyson

    Allyson *****

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    Thanks Newearth indeed

    yes I had wondered about an upright MRi to show blood deficits in upright posture

    also found this on POTS - one of the symtoms of EDS

    http://m.circ.ahajournals.org/content/127/23/2336.full

    cheers

    Ally
     
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  16. Sushi

    Sushi Moderator and Senior Member Albuquerque

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    Allyson

    I don't think it is accurate to say that POTS is one of the symptoms of EDS. POTS usually comes from the autonomic nervous system, can improve with treatment (for instance treating viruses which sometimes "cures" POTS), whereas EDS is a genetic condition. There of course can be co-morbidity.

    Sushi
     
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  17. Allyson

    Allyson *****

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    Hm may be so Such i b ut my specialist claaims it is - due to the stretchy veins and weak connective tissue

    On the EDS pages everyone talks about POTS/OI issues a lot ...so there is some definite connection it seems to me.

    Time will tell i guess

    OT - My MRI showed damage from ischaemia to parts of my brain BTW following my blood test showing dereased blood volume which would also also led to increased and high risk of blood clots and stroke /heart attack - I wonder if anyone has made this connection.

    A
     
  18. Allyson

    Allyson *****

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    I just ahppened a cross thio post on an EDS page - names na dpics removed I do not know any of the posters
    addsa n dirrelevant comments deleted

    How many of you are dealing with other issues like POTS or Raynaud's?
    Like · · Unfollow Post · Share · June 6 at 10:58pm

    June 6 at 11:27pm · Like · 1






    B
    I have both, among other things:(

    June 6 at 11:28pm via mobile · Like




    BB
    :(

    June 6 at 11:32pm · Like




    M
    Both & it SUCKS!!!!!!!!!!!!!!

    June 6 at 11:43pm · Like · 1








    X
    My 11 year old grand daughter is showing signs of EDS. It really breaks my heart to see children dealing with such issues.

    June 6 at 11:46pm · Like




    S
    C was diagnosed in 1 dr's visit, we were at a pain clinic for her EM when they diagnosed EDS, it explained lots then. Kids are tough though, C has suprised me with how she copes, she does better than I do with it.

    June 6 at 11:50pm via mobile · Like




    June 7 at 9:27pm · Like




    June 7 at 9:28pm · Like · 1



    U
    As well as HEDS/Marfans I have a long list of diagnosis and still waiting for confirmation on others most are associated with EDS such as the POTS, Raynaulds, IBS, fibro, MFS, osteoarthritis, scoiliosis, mitral valve prolapse etc, etc! 2 of my 3 kids also have HEDS/Marfans

    June 9 at 11:36pm · Edited · Like · 1



    Y
    My daughter with Hypermobility has both POTS and Raynauds issues -- Raynauds is actually under pretty good control now thanks to the Verapamil she has to take for leg tremors.

    Monday at 1:02am · Like



    v
    My other issues are Sjogren's, trochanter bursitis, plantar fasciitis, sleep apnea, and diabetes.

    Monday at 11:57am · Like · 1



    N
    POTS, fibro, fibro muscular dysphasia, migrains, swallowing issues, digestive issues, There are endless things that EDS can cause

    22 hours
    • o


    via mobile · Like ·
     
  19. Sushi

    Sushi Moderator and Senior Member Albuquerque

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    The Autonomic specialists would disagree, though the comorbidity can be confusing. If POTS were a symptom of EDS, that would imply that everyone with POTS has EDS--which is just not true. POTS is a complex condition where only certain veins dilate (splanchic for instance)--others contract.

    Sushi
     
  20. Allyson

    Allyson *****

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    no that is not accurate sorry Sushi - a symptom is not a diagnostic criterion

    that is to say - reflux, as an example, can be a common symtom in many ilnesses
    It is a symptom in ME /cfs



    that does not mean that every one with reflux has ME/cfs

    i jjust posted one random link i cane across - someone in in an EDS page on 6th June asked
    how many of you with EDS have POTS as well - the page did not copy here 3 times - disappereded whn i tried to finalise th post - and needed a lot of editing to remove names and faces so i am not doing it again

    but there were at least 6 affirmative replies - EDS people who had POTs - no negative repleis
    it was on EDS Toda y fb page.. 6 th June 2013
    A




    You
     

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