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I just found this and 4years and 8 months later, there still hasn't been much progress in regards to hEDS gene discovery. I was recently diagnosed with hEDS with aEDS variants. It's so strange to me how I have met SO many ppl with EDS and yet we are still a "rare disease". It's not a rare disease, it's just rarely known. Since the dx I have been dx with so many things. Just to name a few, Dysautonomia, High BP disorder/Lable blood pressure, Gastroparesis, Osteoarthritis in all major and many minor joints, Upper Airway Resistance Syndrome (they thought Narcolepsy, but sleep study showed no REM during the nap trials in which I was asleep averaging 4 minutes), Emphysema, Nocturnal Hypoxemia, Nocturnal Hypoxemia, Neurocardiogenic Syncope, Bilateral Bipartite Patellas, Gallbladder removed, Trigger Thumb surgery, Anemia, Adenomyosis, Endometriosis, etc. I am positive there is more but I just cannot remember right now.

Geneticist usually. You can also find templates here for Elhers Danlos Syndrome. There are a couple if you search. I was originally diagnosed with fibromyalgia, but it didn't quite fit all my symptoms. Good Luck!

@QC5971, I had excessive daytime sleepiness for decades. After becoming seriously ill, I went to an experienced neurologist/psychiatrist who initially diagnosed me with narcolepsy. He was floored when the sleep study showed I had sleep apnea--I don't have the usual risk factors and don't snore. My understanding is that the collagen formation issues of EDS cause the airway to collapse during sleep. I do use a CPAP every night, and while I feel a little more refreshed, I certainly don't have any of the life-altering changes they expect with typical apnea patients. Where it does help is in bruxism--I cracked two teeth while sleeping before getting the CPAP. Now I don't have such horrible jaw pain or damaged teeth, and if you are like me, your teeth are fragile anyway, so that is my main reason for continuing to use the machine.

P.S. I would be interested to see what others have to say in terms of which specialists to see regarding HEDS. I had read that some rheumatologists are familiar with the disorder, but the one I saw could not fathom the idea of joint pain in the absence of the usual inflammatory ... More

@QC5971, I had excessive daytime sleepiness for decades. After becoming seriously ill, I went to an experienced neurologist/psychiatrist who initially diagnosed me with narcolepsy. He was floored when the sleep study showed I had sleep apnea--I don't have the usual risk factors and don't snore. My understanding is that the collagen formation issues of EDS cause the airway to collapse during sleep. I do use a CPAP every night, and while I feel a little more refreshed, I certainly don't have any of the life-altering changes they expect with typical apnea patients. Where it does help is in bruxism--I cracked two teeth while sleeping before getting the CPAP. Now I don't have such horrible jaw pain or damaged teeth, and if you are like me, your teeth are fragile anyway, so that is my main reason for continuing to use the machine.

P.S. I would be interested to see what others have to say in terms of which specialists to see regarding HEDS. I had read that some rheumatologists are familiar with the disorder, but the one I saw could not fathom the idea of joint pain in the absence of the usual inflammatory factors. I have to educate any doctor or dentist I see on the disease and its implications. I saw an adult geneticist, and he was able to give me referrals if needed to the various specialists who handle the multifactoral mess that is EDS, but trying to get them to all work together is exhausting.  Less

It never occurred to me that this could have a link to chronic fatigue. I had never heard of "HEDS," but I certainly have hypermobility, have almost always had knee and shoulder joint issues (such as my shoulder spontaneously dislocating, etc.), bruise very easily, have sunken eyes and thin skin, thin hair and short stature. What kind of a doctor does one see if they suspect this? For the past 10 years, I've been on a journey to diagnose my unexplained fatigue (I've heard depression, anxiety, panic, vitamins, exercise, and adhd). I only recently completed a sleep study for my excessive daytime sleepiness (which is why "EDS" caught my eye here). They have diagnosed me with Idiopathic Hypersomnia. I know it isn't fibromyalgia because my pain isn't extreme or widespread enough. It's mostly a dull pain which occasionally flares up. Has anyone else had sleep disorders diagnosed? Chronic fatigue is always possible, as well.

FWIW I am diagnosed now. H-EDS pending a blood test changing that (sample in lab).

I was diagnosed with Dercums Disease and Enhlers Danlos Type III - hyperextension. I don't know what to look for but I will happily help if I can.

I was diagnosed with Hypermobility type (possibly some Classical thrown into the mix) in 2001 by a geneticist at NY Presbyterian. It was a diagnosis made by process of elimination. I had the skin biopsy and serum blood tests done. In 2006 my DX was confirmed at Mt Sinai in NYC.

With age I have noticed increased instability and pain in my joints. The increase is due to cumulative micro trauma from the 20 years that I have been symptomatic/unstable. I had late onset due to a genetic mutation that was not passed to me by my mother. This line of HEDS ends with me in my family as I have chosen to not have children. 18 ortho surgeries and daily PT is keeping my body together on most days. But the fall out of 20 years of constant and often increasing pain and narcotics use has left me with adrenal fatigue, fibromyalgia, chronic pain, myofascial issues, autoimmune conditions, etc....Life is a daily struggle just to get through the day.

Just adding to follow. I have not been diagnosed yet, and I'm truthfully not sure if I'd fall on the classical or hEDS side; I have traits of both. But I am happy to do snp comparing, if it's possible.

Hello. I have no idea how to read all of this. I'm willing to share if someone wants to coach me. I had my DNA done by 23andme. My email is speejink@gmail.com.

I crafted a complete list as I could if you search for my 4 part series regarding EDS - Elhers Danlos Syndrome -- Not sure If we are allowed to post links here or not?

Well, for the sake of research, let's see what we have in common. :-)

I did find something on SNPedia about genes that are sometimes associated with the various forms of EDS...https://www.snpedia.com/index.php/Ehlers-Danlos_syndrome

I have homozygous mutations of COL1A1, COL3A1, and COL5A1, and several hetero mutations of TNXB. I have symptoms more like HEDS than classical, as my skin is weirdly soft and bruises incredibly easily, but I do not get the cigarette paper scars normally associated with classical. I also have homozygous MTHFR C677T, MAOA, PON1, SOD2, GSTP1, PEMT, and NDUFS7, among others, as well as a ZIP4 mutation (SLC39A4).

It seems to take over 6 grams of vitamin C per day to keep my severe bruising at bay, and my gums have always bled horribly at the dentist. My teeth are also very fragile, I have some molars with very twisted double roots (so 4 instead of 2), and I have hypodontia (missing teeth from birth).

I do not have the Marfanoid physical appearance associated with certain variants of EDS. although I have an ancestor thought to have had EDS whose entire family had the Marfanoid appearance.(I do have mild piebaldism ... More

Well, for the sake of research, let's see what we have in common. :-)

I did find something on SNPedia about genes that are sometimes associated with the various forms of EDS...https://www.snpedia.com/index.php/Ehlers-Danlos_syndrome

I have homozygous mutations of COL1A1, COL3A1, and COL5A1, and several hetero mutations of TNXB. I have symptoms more like HEDS than classical, as my skin is weirdly soft and bruises incredibly easily, but I do not get the cigarette paper scars normally associated with classical. I also have homozygous MTHFR C677T, MAOA, PON1, SOD2, GSTP1, PEMT, and NDUFS7, among others, as well as a ZIP4 mutation (SLC39A4).

It seems to take over 6 grams of vitamin C per day to keep my severe bruising at bay, and my gums have always bled horribly at the dentist. My teeth are also very fragile, I have some molars with very twisted double roots (so 4 instead of 2), and I have hypodontia (missing teeth from birth).

I do not have the Marfanoid physical appearance associated with certain variants of EDS. although I have an ancestor thought to have had EDS whose entire family had the Marfanoid appearance.(I do have mild piebaldism, however.) The youngest of my three children has the same appearance but does not have any joint hypermobility or signs of EDS, although she is still quite young. The middle child does not have Marfanoid appearance, but she does have terrible subluxations and lax joints without noticeable hypermobility; she is the only child with piebaldism. The oldest child (also female) is completely unaffected. My father has subluxations and large joint hypermobility as well as mild piebaldism; his sister has the same symptoms but has severe piebaldism. Neither of their parents were known to have piebaldism at all, and while one parent had hypermobility, the other parent's family has the Marfanoid appearance...so it's all a giant mess in terms of family history. The most salient feature of an affected person in my family is that we have pale skin, don't tan well, and we don't wrinkle. We are ageless from about 15 to about 65, after which time the growth of cartilage (nose, ears) makes it obvious that we are old...but we still don't wrinkle much.

The ZIP4 mutation is interesting in that certain rare forms of EDS have been linked to zinc transporter mutations. Perhaps zinc transporters are more important in other forms of EDS than researchers originally thought. Pale skin and lack of tanning is thought to be attributed to a condition called pyroluria, and I believe disorders of zinc and B6 transport are probably causative (I also have B6-related mutations and do very well on high-dose B6 and zinc). I think the EDS symptoms and zinc/B6 symptoms may be related.

Well, what do you think? Less

Thanks for responding. I was hoping they had kind of figured out something now that there are some many things exposed by the whole genome being pretty much figured out.

I would like to do a comparison of SNPs with others with HEDS to see if we mere mortals can do what the geneticists haven't yet figured out.

BTW - I know I have Hypermobile type (diagnosed myself from symptoms a couple years before my physiatrist diagnosed me. I also have stiffened up some upon aging and also have tons of other unexplained health problems, but if you have real soft skin, you may have Classical type rather than Hypermobile type EDS.

My geneticist said they have not yet determined the genes responsible for HEDS and still make diagnoses based entirely on Beighton score, other physical examinations, and family history. Beighton score is not always helpful--in my case, I have broken joints, so they do not hyperextend any more; I also have less flexibility with age, as most people do. They can really only diagnose textbook-like cases of HEDS at this point, which is extraordinarily frustrating for people like me, who have painful subluxations, weirdly soft skin, and a variety of other unexplained health problems.