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Thread: Ehlers-Danlos Vasuclar

  1. #1
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    Ehlers-Danlos Vasuclar

    I am wondering if anyone in this forum has a diagnosis of Ehlers-Danlos?

    Someone in another forum has brought this to my attention sometime last year and I am wondering now if perhaps I should look in to it although I dont know if I did, what doctor I would see or where to start....

    I am 35 years old and started having some bizarre symptoms starting around April of last year. It started with dizziness and strange headaches here and there. I was diagnosed with 3 different heart arrhythmia's when I was 20 years old and so when this started I had a ct scan and an MRI of my brain without contrast and an EEG and all were normal with those. Then I went and saw my cardiologist and had a new echo and stress test and all was normal with those.
    Then around June I noticed strange things popping up on my skin and went and saw a dermatologist. He told me I had Palmer erythmea on both palms, a few spider nevus and thread veins. He advised me to have my GP check my liver because all my skin symptoms are often seen in people who have late stage liver disease... I had a decent work up on my liver, all but a biopsy and everything was okay other then an enlarged and fatty liver.
    In the meant time in August I started to notice that my normal veins were starting to become visible under my skin. I am olive skin toned and have never really been able to veins under my skin... In some areas my skin has become transparent, as if there is no color to it at all and you can see straight through my skin... It reminds me of images you see of embryos. You know how they are clear and you can see straight through?? I have also noticed in the past 2 months that I am starting to get what I can only describe as stretch marks only somewhat wider on my breast, back, shoulder area and upper arm... Some people have thought they were scars but they are not.... Something strange is going on with my body....

    I dont google and so I dont know a whole lot about this disorder. I do know that it is something like Marfan syndrome.. I am not able to move my joints they way they can or pull my away from my body.

    I admit, I am indeed worried about some sort of genetic issue and have been for many years due to the fact that both my biological father and his father died suddenly one at 50 and the other at 51... I never met my father and do not know the cause of death for either.... Just that it was sudden.... My father also had a younger brother that died when he was 17 years old... I do not know the cause of death for him either.. I heard it was drowning but am not 100 percent sure..

    I am going to get an appointment with my doctor but in the meantime I am curious to know if there is anyone here who has it...

  2. #2
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    Re: Ehlers-Danlos Vasuclar

    I see you've honed in on the life-threatening vascular form. Do you have any of the facial features to suggest it? Did you father or grandfather? By 35 it would be atypical not to have had a serious bleed, or at least significant health issues. (I know a little bit about the condition as my 23andMe results show I carry an SNP associated with VEDS and I looked into it as I'm adopted)

  3. #3
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    Re: Ehlers-Danlos Vasuclar

    I do not know my grandfather nor my father. My grandfather literally sneezed and died when I was 2 months old and my father left before I was born and so I do not know what either of them looked like. My father was found dead at work on the bathroom floor.. I just sent a request requesting a copy of the autopsy report to the state of New Jersey but I am unsure if they will release it to me or not. He died in 2005 but his middle daughter claims she was unable to get an autopsy report because he had his ex girlfriend listed as next of kin. I do not know if she is being honest with me. I have never met either just spoke a few times on the phone and she is friends with my on Facebook.. I have been asking for a photo of him for years now but she never sends me one.

    I didnt choose the life threatening form. I know next to nothing about this condition, someone on another forum mentioned it to me in September of this past year but I thought in order to have it, one had to be able to move their bodies certain ways or stretch their skin... I started thinking about once I realized that all my skin symptoms are vascular, except for the scar like stretch marks that is... The Palmer erythmea, spider nevus and thread veins, varicose veins, broken veins and the normal looking veins now showing through my skin.. Its starting to look like I have a map under my skin.. The way some areas are have become completely transparent is disturbing.

    I have done DNA testing with ancestry.. They dont give you a medical report like 23 and me but I did upload my raw DNA to Prometheus about 7 months ago.. I just ran another report last week because they are allowing free reports until January 15th... I checked last night and I have 6 SNPS that are linked to Ehlers-Danlos but they are set neither good nor bad but unknown... and the information that was there, I didn't really understand.
    Last edited by Careful1; 23-01-18 at 03:10.

  4. #4
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    Re: Ehlers-Danlos Vasuclar

    Ehlers-Danlos Vasuclar

    Brought to you by your friendly neighborhood Dr. Google

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  5. #5
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    Re: Ehlers-Danlos Vasuclar

    I found out about my VEDS snp through Promethease too. It was only a 2.5 magnitude, so I'm just ignoring it, lol. People with VEDS have distinct facial features. Thin nose, protruding eyes, a small chin. I understand the anxiety you feel, as I don't have knowledge of medical issues on my paternal side either and I admit I panicked a little when the VEDS snp popped up.

    ---------- Post added at 17:51 ---------- Previous post was at 17:47 ----------

    I am sorry your bio family are being difficult. It happens. My birth mother won't even tell me who my birth father is, which is infuriating and selfish, imo

  6. #6
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    Re: Ehlers-Danlos Vasuclar

    I had a follow up with my dermatologist this morning for a mole he found during my annual skin check. The results were benign which I was sure they would be as I have had so many of them biopsied at his request but we got to talking about my on going skin issues.. He wanted to know how my liver checked out and when I told him that my liver checked out mostly okay, he wanted to know what the next step was, specifically what my primary care doctor was doing to investigate. He was pretty shocked by my response that my doctor has pretty much said he doesn't know and left it at that.. He did another complete body check and told me that the things I have going on are not normal but that they are not skin conditions. He told me something is going on internally that is causing things to manifest outwardly if that makes sense. He wants me to go back to primary doctor but he also wants to check some things for himself. He had me sign a release for my medical records from my primary to him so he can look them over. He said there are some labs he wants to run but since his office does not take my insurance and I pay out of pocket to see him, he doesn't want to repeat any labs that I have had done recently. He shocked me further by telling me he wasn't charging me for this visit and he wants to see me in 2 weeks to allow him some time to get and review my records.

    So, I feel good knowing he is helping me look into what is going on with me. It is frustrating when you present yourself with symptoms and the doctor doesnt have the answer and but doesn't investigate... He only checked my liver because my dermatologist wrote him a letter and he then he sent me to a specialist because my ultrasound was abnormal. Once he sent me off, he washed his hands of it.. When I came back and told him my liver is okay and wouldn't cause my symptoms, he said well then the things on your skin are normal. I dont google symptoms because it was very hard to over come my health anxiety and I dont want to get sucked back into all that and so I do not know what could possibly cause the things I have going on but I know that for me they are not just normal. They starting popping up all at the same time, its just not normal. Its disturbing as well because I can see these things so its a constant reminder that something is wrong. I admit that at the very start, I ignored them thinking sometimes things change and it doesn't mean something is wrong but then more and more things kept popping up and to the point I could no longer ignore them.

    This whole situation is starting to cause me great anxiety and even some depression. Its scary to have things like this happen and not have the answer on why its happening. I do not know if its something simple and not at all scary or if it could be something serious... I am starting to become very uneasy... I fear my anxiety coming back full force because of this situation and feel helpless to stop it. I cant go back down that road... It took years to get it under control and 7 years of living life anxiety free makes you see all the time you lost worrying over nothing. What happens if I cant find my back? This scares me.

    ---------- Post added at 12:40 ---------- Previous post was at 12:25 ----------

    Melfish, I am sorry to hear you are going through this as well... My sister is in the same situation as you.. My mother put my older sister up for adoption and she found us when she turned 18 years old. My sister has some medical issues and was also pressing my mom for answers on who her biological father is. My mom lied to her or she didnt give my sister the other possibility. She claims she thought the guy she told my sister was her father was but when the truth came out, it was indeed shocking. Just recently I might add. My sister was the 1st to do the DNA testing, she is the one that got me into it... When her results became available, she had a match on ancestry to someone and it said he was her father.. It was not the man my mother named.. Even when confronted with the evidence and my sister now knows who her father is, my mother still will not admit to it, I suppose its because she is ashamed and while that may be the case, my sister deserves to hear the truth from my mothers mouth...
    Last edited by Careful1; 17-01-18 at 18:33.

  7. #7
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    Re: Ehlers-Danlos Vasuclar

    Hello, another Ehlers Danlos sufferer here although mine is the Hypermobility Type.

    I completely understand the frustration of having a wealth of symptoms and not knowing the cause, plus the scaryness of facing an illness such as Ehlers Danlos.

    I thought it might help you a little if you heard from someone else who had gone through the process of getting diagnosed:
    When I was little I was terribly clumsy, had no balance, kept spraining my ankles, that sort of thing. =
    As the years went on I continued to have trips and falls, as well as hip bursitis and a mysterious partially-torn Achilles tendon that happened without any acute injury or accident of any kind.
    Every injury or symptom I'd ever had were always treated separately, in isolation, no GP ever looked at my history as a whole and put two-and-two together.

    Long story short, just over two years ago I finally got an appointment with a Rheumatologist, and I took along a list of every disparate symptom I'd had over the years (including, but by no means limited to, the few I've mentioned above). It was a long list. She looked over my list, did some tests to see how 'bendy' I was, examined me and diagnosed Hypermobility Syndrome / Ehlers Danlos Hypermobility Type and also a slight Scoliosis of my spine.

    And all that I'd ever suffered from - the bursitis, the achilles tendonitis, the sprains and trips and falls, all suddenly came together - they weren't random, isolated things at all, they were all signs of Ehlers Danlos. And, even though I have the hypermobility type, I also have some symptoms, for want of a better word, of other types (my understanding is there can be a crossover of types).

    You mentioned visible veins - yeah, I have those. In my hands (which look like old women's hands even though I'm not - another EDS sign!) and in my chest and arms, but mainly in my feet (or as I like to call them, my Salamander Feet). Yes they are that bad. No you don't want to see a picture of them. Trust me.

    I know I'm rambling and I'm sorry, but I'm trying to get across the fact that, like me, I think you have a lot of different symptoms that need to be looked at as a whole.

    Ehlers Danlos can come in many varieties and even two people with the same Type can have different symptoms as the condition is so wide-ranging. There can even be cross-over between the Types (for instance, I have slightly stretchy skin, poor wound healing, distinctive scars, visible veins that are more vascular than hypermobile).

    I think you would benefit from writing down a list of all your symptoms / problems you've had over the years, even if they don't look like they are connected, and get a referral from your GP to see a Rheumatologist. That is the best department to get a diagnosis from (if indeed Ehlers Danlos is what you have). I think off the top of my head that the Vascular Type is one that can be genetically tested by a Rheumatologist too.

    And - I know it's much easier said than done - try not to worry in the meantime - focus on getting a correct diagnosis and only then can you move forward and get as much help as you can for the various problems and symptoms that EDS comes with, if that is what you have. And if it isn't, hopefully someone like a Rheumatologist can either diagnose what is wrong, or point you to the correct specialist instead.

    And Do Not Google Your Symptoms. That never ends well, I know from experience!

    If you want any more info about Ehlers Danlos then this is an excellent site http://hypermobility.org/help-advice/ and I would recommend you have a read.

    Best of luck to you, I hope you get yourself sorted out. Apologies if my post was unduly long.

  8. #8
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    Re: Ehlers-Danlos Vasuclar

    Quote Originally Posted by ChocolateButton View Post
    Hello, another Ehlers Danlos sufferer here although mine is the Hypermobility Type.

    I completely understand the frustration of having a wealth of symptoms and not knowing the cause, plus the scaryness of facing an illness such as Ehlers Danlos.

    I thought it might help you a little if you heard from someone else who had gone through the process of getting diagnosed:
    When I was little I was terribly clumsy, had no balance, kept spraining my ankles, that sort of thing. =
    As the years went on I continued to have trips and falls, as well as hip bursitis and a mysterious partially-torn Achilles tendon that happened without any acute injury or accident of any kind.
    Every injury or symptom I'd ever had were always treated separately, in isolation, no GP ever looked at my history as a whole and put two-and-two together.

    Long story short, just over two years ago I finally got an appointment with a Rheumatologist, and I took along a list of every disparate symptom I'd had over the years (including, but by no means limited to, the few I've mentioned above). It was a long list. She looked over my list, did some tests to see how 'bendy' I was, examined me and diagnosed Hypermobility Syndrome / Ehlers Danlos Hypermobility Type and also a slight Scoliosis of my spine.

    And all that I'd ever suffered from - the bursitis, the achilles tendonitis, the sprains and trips and falls, all suddenly came together - they weren't random, isolated things at all, they were all signs of Ehlers Danlos. And, even though I have the hypermobility type, I also have some symptoms, for want of a better word, of other types (my understanding is there can be a crossover of types).

    You mentioned visible veins - yeah, I have those. In my hands (which look like old women's hands even though I'm not - another EDS sign!) and in my chest and arms, but mainly in my feet (or as I like to call them, my Salamander Feet). Yes they are that bad. No you don't want to see a picture of them. Trust me.

    I know I'm rambling and I'm sorry, but I'm trying to get across the fact that, like me, I think you have a lot of different symptoms that need to be looked at as a whole.

    Ehlers Danlos can come in many varieties and even two people with the same Type can have different symptoms as the condition is so wide-ranging. There can even be cross-over between the Types (for instance, I have slightly stretchy skin, poor wound healing, distinctive scars, visible veins that are more vascular than hypermobile).

    I think you would benefit from writing down a list of all your symptoms / problems you've had over the years, even if they don't look like they are connected, and get a referral from your GP to see a Rheumatologist. That is the best department to get a diagnosis from (if indeed Ehlers Danlos is what you have). I think off the top of my head that the Vascular Type is one that can be genetically tested by a Rheumatologist too.

    And - I know it's much easier said than done - try not to worry in the meantime - focus on getting a correct diagnosis and only then can you move forward and get as much help as you can for the various problems and symptoms that EDS comes with, if that is what you have. And if it isn't, hopefully someone like a Rheumatologist can either diagnose what is wrong, or point you to the correct specialist instead.

    And Do Not Google Your Symptoms. That never ends well, I know from experience!

    If you want any more info about Ehlers Danlos then this is an excellent site http://hypermobility.org/help-advice/ and I would recommend you have a read.

    Best of luck to you, I hope you get yourself sorted out. Apologies if my post was unduly long.
    Thank you very much for your response I have 2 future appointments.. one on July 15th to see a genetic doctor and one 2nd week of March for Rheumatologist... I am hoping to gain some insight from one of them.. All 3 of my children saw a genetic doctor at the childrens hospital this past Friday and he ordered an EDS screening panel for my middle child. Depending on the results of hers will determine if its ordered for the other children. Since the testing is expensive he thought perhaps they would be willing to pay for just one child to be tested at this time.... I am waiting to hear f it gets approved or not.. He said there is no lab in the state of Florida that does this test and so if its approved someone will contact me to set up a time for a tech to come to my house to get a sample from my daughter.

    Thank you for the link, I am deff going to check it out..

  9. #9
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    Re: Ehlers-Danlos Vasuclar

    Quote Originally Posted by Careful1 View Post
    Thank you very much for your response I have 2 future appointments.. one on July 15th to see a genetic doctor and one 2nd week of March for Rheumatologist... I am hoping to gain some insight from one of them.. All 3 of my children saw a genetic doctor at the childrens hospital this past Friday and he ordered an EDS screening panel for my middle child. Depending on the results of hers will determine if its ordered for the other children. Since the testing is expensive he thought perhaps they would be willing to pay for just one child to be tested at this time.... I am waiting to hear f it gets approved or not.. He said there is no lab in the state of Florida that does this test and so if its approved someone will contact me to set up a time for a tech to come to my house to get a sample from my daughter.

    Thank you for the link, I am deff going to check it out..
    Hi, I’m just wondering if you ever did get a diagnosis of vEDS? My family have some symptoms which I’m concerned about, particularly visible veins.

    Thank you!

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