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  • Nonspecific Ehlers Danlos variant: Possible genetic tests

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    Old 11-20-2013, 08:46 AM   #1
    Frayed Silence
    Junior Member
    Join Date: Jun 2013
    Location: UK
    Posts: 24
    Frayed Silence HB User
    Nonspecific Ehlers Danlos variant: Possible genetic tests

    Hi all

    I have had a skin biopsy which has been inconclusive but a few doctors suspect I have a nonspecific Ehlers Danlos variant. Please could anyone tell me what this could be and if they have had this issue with not getting a specific diagnosis of type of Ehlers Danlos.

    My symptoms I have had or still have are:

    Arthritis in multiple joints - jaw, spine, hips, toe joints, now possibly my ankle/foot.

    Tooth crowding. Buck teeth.

    Neck pain. Spine pain. Hip/groin pain.

    High palate in roof of mouth - arched upwards.


    Moderate nearly severe short eyesight - cannot manage without glasses.

    Spine/disc degeneration all up my spine levels from cervical to lumbar spine.

    Loss of reflex in left leg when tapping on knee.

    Recurrent acute-on-chronic urinary retention - bladder dysfunction. Poor flow. Changes to severe urinary incontinence where it just all comes out upon standing after getting urge to go.

    Conjenital hip condition with labral tear.

    Knees, particularly left one now painful. Fear I may have arthritis in it.

    Possible scoliosis. Prominent lumbar lordosis. Schmorls nodes. Disc bulges and protrusions.

    Stretchy skin.

    Always been very slender.

    Got slim long fingers, like spider fingers.

    Chest has a protruding bump defect, which no doctor has been able to explain.

    Bendy joints - particularly thumb touches to wrist.

    Narrow ear canals, get blocked easily with wax making me deaf, therefore needing syringing.

    Sinusitis bouts - just had turbinates reduced. Now have more air coming out of nostrils.

    Muscle wastage in left leg.

    Got bad shoulder too, painful cannot lie or sit a certain way. Maybe got arthritis in this now as well?

    Grandad (on my maternal side) died from a brain aneurism. My other grandad (on my paternal side) died from an abdominal aneurism.

    I am suspected to have either a neurological or/and Ehlers Danlos nonspecific variant or some kind of connective tissue disorder but so far not got a real answer so have requested to see a geneticist for tests as I know it is the only real and positive way to find out.

    I was wondering are any of the above symptoms any that others have had or got with Ehlers Danlos and what sort of genetic testing can be done for diagnosis of Ehlers Danlos or genetic neurological condition. Would a muscle biopsy be a good test to do? I am willing to do it as I am tired of lack of proper diagnosis. The pathologist commented that light microscopy does not usually show dermis problems. Do I need a deeper one? What about DNA testing - for markers? No doctor has been able to come to a true conclusion via physically looking at me or examining me so I feel more lab work is needed.

    Are there any geneticists particularly recommended in UK. I am nearest the Midlands and Wales too. Ideally I would like one who is reasonably local who I can get to.

    Many thanks for your help and time in advance.

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    Old 06-08-2014, 09:45 AM   #2
    Join Date: Jun 2014
    Location: Ashland
    Posts: 5
    moeglein HB User
    Re: Nonspecific Ehlers Danlos variant: Possible genetic tests

    Our symptoms are quite similar, although it sounds like you have a somewhat more marfanesque appearance (long fingers). I am a 5 of 9 on the Beighton scale because my arms and legs don't bend backward, but my knees are horribly painful anyway. I have been diagnosed with hypermobile EDS. I'm in the U.S., so I can't suggest any particular strategies for you when it comes to medical care, but I will say that the U.S. is a mess along these lines now, anyway. Most people find that they have to do most of the legwork themselves, with the help of the internet!

    If you can get a 23andme test over there, I recommend it. I have found it to be very cost-effective and helpful in narrowing down a few things. For example, I know that I have a COL3A1 collagen SNP of note. I also know that I have the MTHFR A1298C +/- variant, a couple of G6PD deficiency genes, VDR Taq (vitamin D deficiency) and a number of other odds and ends. Oh, and I have some issues on the FBN1 gene, which relates to fibrillin and Marfans. You might want to check that out, yourself.

    Do you have dermatographia (skin writing, mast cell activation)? Costochondritis (inflamed connective tissue at sternum)? Notalgia parasthetica (itchy back-- points to neuro involvement)?

    Last edited by moeglein; 06-08-2014 at 10:42 AM.

    Old 07-07-2014, 06:47 PM   #3
    Frayed Silence
    Junior Member
    Join Date: Jun 2013
    Location: UK
    Posts: 24
    Frayed Silence HB User
    Re: Nonspecific Ehlers Danlos variant: Possible genetic tests

    Hi moeglein

    Thanks for your message and advice. I will look into your suggestions. I am surprised the in the UK where I live they never offered me a genetic testing for the collagen gene - COL3A1 and FBN1 genes. I too have just been diagnosed formally with the supposedly benign hypermobility version but have such severe pain from it that I am not sure that I actually have a bit more of another one or even Marfans. The geneticist denied I had Marfans as he said I was not tall enough - I am 5 foot 4 inch or near enough for a female. He did no tests with regards DNA, only instead going off all of my medical problems throughout my life - for example my severe short sight that is getting worse, my crowded teeth, high pallet/roof of mouth, bendy thumb joints, etc. He did not use any scale while diagnosing me. I have no idea of my score at all. Were you diagnosed this way without genetic DNA testing? What if he has missed something? I am concerned that he has not looked into me deep enough. I mean, a lot of my symptoms i.e. teeth crowding, migrains, short sight, etc, can be on many normal people without Ehlers Danlos so that does concern me.

    I don't think I have any of the three symptoms you mention. However, I do have tenderness/pain slightly on pressing my one side of my upper rib cage and have one side of my rib cage sticking out/protruding visibly a lot more than the other side so maybe something is going on there.

    P.S: The genticist over here in the UK denied there was any genes that can be tested for Ehlers Danlos, particularly for the hypermobility type. This seems to be why he did not check my DNA. Though I have read there are markers, including the ones you mention, so am not sure... maybe I need to ask him about them again and possibly even see another geneticist? Surely he should have been aware of these genes and offered me testing instead of just focusing on past and present clinical symptoms which may or may not even be related...

    Kind regards


    Last edited by Frayed Silence; 07-07-2014 at 06:51 PM. Reason: Forgot to add some info

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