Wat is Ehlers-Danlos Syndroom?

(English story below)

Wat is het syndroom van Ehlers-Danlos?

EDS staat voor Ehlers-Danlos Syndromen, een verzamelnaam voor een zeldzame groep erfelijke bindweefselafwijkingen. Er zijn dertien verschillende typen benoemd binnen de nieuwste classificering uit maart 2017. De meest voorkomende typen zijn Klassieke EDS (cEDS) en hypermobiele EDS (hEDS). Doordat EDS bestaat uit dertien subtypes, zijn de verschillen in symptomen van patiënt tot patiënt aanzienlijk.

Hoofdkenmerken zijn: hypermobiliteit, rekbare zachte huid, bindweefselzwakte, snel blauwe plekken en vertraagde wondgenezing. Door deze kenmerken zijn pijn en vermoeidheid veelgehoorde klachten. De mate van ernst varieert per subtype, maar ook per persoon.
Het is soms een lastige opgave om iemand onder te brengen onder één type omdat er overlap is tussen verschillende typen EDS, en er soms nog beperkte onderzoeksmogelijkheden zijn voor met name hypermobiele Ehlers-Danlos (hEDS). Voor alle andere typen is het specifieke genetische defect inmiddels bekend.

EDS is een zogenaamde multisysteemziekte. Dit betekent dat de klachten zich niet alleen in het bindweefsel van gewrichten laten zien. In het hele lichaam bevindt zich bindweefsel, bindweefsel dat door de EDS minder goed is opgebouwd. Hierdoor zie je vaak dat ook andere diagnoses naast EDS ontstaan zoals bijvoorbeeld hartklachten, spijsverteringsstoornissen, ademhalingsproblemen of oogklachten.
EDS is een chronische aandoening met een progressief uiterlijk. De aangeboren afwijking op zich neemt niet in ernst toe, maar de uitingen hiervan wel. Een opeenstapeling van (sub)luxaties, microtrauma's of vroegtijdige artrose en andere bijkomende diagnoses kunnen de algehele toestand van een patiënt wel steeds verder verslechteren. Dit betekent ook dat de klachten mogelijk uitbreiden en/of verergeren terwijl een patiënt ouder wordt.

Hoe krijg je het syndroom van Ehlers-Danlos?

Alle typen van de syndromen van Ehlers-Danlos zijn erfelijk. De wijze waarop ze erfelijk zijn verschilt echter per subtype. Meestal erft EDS autosomaal dominant over. Dat betekent dat als een van de ouders EDS heeft, de kans dat een kind ook datzelfde type EDS heeft 50% is. Je kunt ook de eerste in een familie zijn die EDS heeft, dat noemen we een spontane mutatie. Je kunt de aandoening dan wel doorgeven aan je eventuele kinderen, maar de rest van je familie loopt geen risico de aandoening alsnog te krijgen.
In zeldzamere gevallen erft EDS autosomaal recessief over. Hierbij zijn de ouders (ongemerkt) drager van een variant van EDS, maar krijgt een kind pas de aandoening als het van beide ouders dit gen erft.
Een laatste mogelijkheid qua overerving is wanneer deze X-gebonden recessief is. Bij deze variant krijgen alleen jongens de aandoening.

Wat is de oorzaak van de aandoening?

De oorzaak van de syndromen van Ehlers-Danlos is meestal een afwijking in het collageen. Collageen is het eiwitbestanddeel van bindweefsel en kraakbeen, en wordt door bindweefselcellen aangemaakt. Een bindweefselcel weet hoe een bepaald soort collageen gemaakt moet worden, doordat de code daarvoor in de collageen-genen ligt opgeslagen. Als er een fout zit in de genetische code van het collageen, dan wordt er door het bindweefsel dus afwijkend collageen geproduceerd. Dit afwijkende collageen maakt vervolgens onderdeel uit van het bindweefsel en zorgt er voor dat dit bindweefsel een abnormale samenstelling heeft. Hierdoor kan het bijvoorbeeld gemakkelijk scheuren of het is overrekbaar.

Lees hier het verhaal van een jonge moeder met EDS

by Tracie A.

Like most with Ehlers Danlos syndromes, it took many years of seeing various doctors for all of my symptoms. It started in my younger years around 15 when my shoulders would sublux and dislocate. It became so bad I could no longer attend gym class or do gymnastics which I absolutely loved. Back then I was considered "double-jointed" and like many EDSers, I did all the "party tricks". I figured I was just very flexible and nothing more.

As I began my journey into adulthood and got married, I also became pregnant three times with three beautiful children. During these pregnancies, I could only seem to carry until about 35 weeks or until the babies weight reached 5 lbs. This happened with the first two, which were my daughters. No one including myself thought much of it. Doctors thought it had to do with my narrow hips. We waited to have our third child around 7 years later. It was this pregnancy at age 29 in 2005 that started the real problems. I suffered from stage 3 uterine prolapse and had placenta previa so I was on strict bedrest. My son was born at 32 weeks, and it nearly took both of our lives. He did clinically die 3 times and was brought back with intervention through the NICU. I had issues with the placenta and needed a blood transfusion.

After 21 days we both returned home. That's when EDS reared its ugly head. I had to have a hysterectomy because the prolapse was so bad I had bathroom issues. Then I began having hip and leg pain that is indescribable. I went from doctor to doctor for three years, using wheelchairs, walkers and canes and every test, every poke, every prod, resulted in "everything is coming back normal," yet the searing, unbelievable pain in my hips would still be there.

I would search online and type in my symptoms but all that came up was this thing called Ehlers-Danlos Syndrome. I didn't think I had this because I figured the doctors would have known. I was called a hypochondriac, I was told I needed to see a therapist because nothing was showing on my test results, therefore, it must be in my head.

If it was in my head, believe me, I would have told it to go away!

By 2008 I was a mess. Every joint was now subluxing and dislocating. Wrists, fingers, knees, hips, shoulders, ankles. Anything with a joint. One day I was in so much pain I went to the ER and told the very young resident who attended me that he either figure out what was wrong or amputate my legs (at this point just sitting was so excruciating I had to lay on my stomach) he looked at me and said " well, your symptoms sound like something we learned in med school called EDS, but you don't have stretchy skin." Of course, he hadn't bothered to check either. I went home, went into the bathroom and stretched my neck. Bingo! I never knew I could do that!

I made an appointment with my GP and told him what I thought I had and to send me to a geneticist. He had to look it up himself and said, "There is no cure and no treatment, so why even bother?" Ugh, I couldn't believe it! I said I have children and its hereditary. I was seen by the genetics department and there it was. I was diagnosed. Finally! An answer to all my pain, all my problems, and why I had such difficult pregnancies.

While I was in between being diagnosed I went onto YouTube and was shocked. There were maybe 11 videos on it. I started making videos about EDS because I wanted to be an advocate for this unknown syndrome. Once I had the actual diagnosis I took my children to a pediatric geneticist because they all had identical symptoms I had at their age and yes, all three had it. I began making more videos on YouTube because I didn't want anyone to go through all that I had. I never looked at it as a bad thing, but more as a positive because I had an answer and I felt lucky to have found it. I wanted to help as many people as possible! I felt if just one person was diagnosed because I put my story online, and showed all the bendy ways of EDS, it would all be worth it. Along with that journey, there was an outpouring of support, friends made, and most importantly diagnosis reached for some! I no longer make videos because there are so many out there and that in itself is awesome!

9 years after my diagnosis things have gotten much worse. A lot of pelvic floor issues, organ prolapse, hernia, gastritis, and many more that have left me hospitalized over and over, but in that time I have seen an amazing thing: so many doctors, nurses, and caregivers know what EDS is or have heard of it! The awareness has grown in ways I never imagined was possible. All three of my children now have their own stories and my son who is 12 is homeschooled due to his own hip pain being so severe. Even though all of us suffer so terribly, I am always thankful that we at least know what is wrong and how to deal with it by using braces, canes, walkers or wheelchairs.

Flare-ups for myself are becoming increasingly worse, laying me up for months at a time just from a barometric pressure change. I battle with it because I am a very outgoing person who loves life but even in the worst of my flares I still look at the positive and use humor and laughter to keep my spirits up. I do have one final wish, and that is to dedicate my body to be strictly used as a way to learn how Ehlers-Danlos syndromes affect the body inside and out. I am currently working on making that happen. There won't be a cure or any clinical trials ready during my life, but if I can participate in research studies, that will help shed light (along with others) and help doctors and genetics come that much closer, it will benefit others including my own kids, and one day their own. I can't possibly think of a better way to truly help.

I want to thank all of you at the Ehlers-Danlos Society for all you do for us! Between the constant updates and links, to Inspire where us EDSers can connect and support one another, your dedication to awareness has literally been something I have witnessed over the past nine years! Your caring support, your prompt response when I reach out, and your never-ending quest to help those who need it will resonate for years to come.

Gentle hugs to all!

Tracie

Een van de vele ervaringsverhalen die op de website van de wereldwijde community-website van Ehelrs-Danlos Syndroom staan. 

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