Eds People Please Read

[Janey]

For those of us with EDS - does the fact that we have POTS as a result of EDS mean that we have a "vascular" element to our Ehlers Danlos?

If it does, shouldn't we be having regular ultra sounds/CTs to get an idea of the thickness of the main blood vessels in our bodies?

Apologies if I've been thick and got this al wrong, but would appreciate being enlightened.

Janey

[persephone]

Hi Janey. Isn't Oxford like Narnia this week!

As far as I know, the most common type of EDS which POTs people have is type 3- the hypermobile type WITHOUT vascular involvement.

ALthough: people in my family have a history of early aneurysm, and there is also pectus carinatum (pigeon chest- a hallmark feature of EDS IV, the vascular type). I've had one consultant tell me it's possible to have a mix of hypermobile and vascular.

So...I would say, YES, we should be having those things done. Try telling that to the JR though!

:-)

ps would you like to meet up in Oxford soon

[delphicdragon]

I've got hypermobile EDS. There is no history of aneurysms in my family, but there is a history of organs going "pop" under minimal pressure. If you do not have either as a history, you probably do not have a vascular component to your disease. That said, you need to have regular echocardiograms looking at your aorta. This is really important. I get one every year or so, just to make sure it isn't widening.

I do see the POTS as a vascular component of EDS, but not one of the typical dangerous and deadly vascular complications (Abdominal Aortic Aneurysm is the big one) . My veins just stretch more than they should, as does my heart, hence the POTS.

Sara

[anna]

It has been explained to us that the blood vessels in HEDS are more stretchy but not weak as in VEDS, so not a high chance of spontaneous rupture and such like. Though if you have any family history of VEDS type complications it would be wise to keep a check on it!

We have been re typed as type 2 which is just a version mild classical, on our clinic letter the geneticist has written,

"very intense exercise may put pressure on certain blood vessels and this should be avoided." So I guess we are a little more prone to going 'pop' than normal folk!!

Anna

[Maxine]

Hi,

Type 2 classical EDS isn't "mild"-----although it's has been said it's the milder version of of classical, people with this type still have the same problems as classical type 1, the part that's only milder is the skin manifestations. When I went to NIH I aksed Dr. McDonnell about this, as I looked up type 2 classical when I got my clinical notes from her, and one website said it was the "mild" form of classical. I told her I was confused because my subluxations, spine instability, poor vascular tone, ect. felt pretty serious. She said it was, and the only mild part for me is the skin involvement.

In fact, from what I'm finding out, my excessive diverticuli in large intestine, and the very large 5cm diverticuli in small intestine is probably from my EDS. When I was at the EDs study at NIH in 2008, my diagnosis was changed from hypermobile EDS to Classical. I think some geneticists are just calling it "classical" now. I have classical EDS with hypermobility, skin and vascular involvement. My spine is greatly affected, especially in cervical/cranial region.

Geneticists are now finding that there may be crossovers of vascular components into other types of EDS.

Maxine :0)

[Chaos]

From what I've been seeing while researching EDS recently it looks like there can be cross-overs between types i.e. Type 3 can still have vascular complications.

[mkoven]

ans stuff in eds seems to have both a vascular and often some issues at cranial-cervical junction. this appears to be a huge issue of controversy, but many edsers have either laxity where the head and neck meet that can impinge on the brainstem, or chiari, or tethered cord. in my case, I probably pool abnormally, but my eds geneticist thinks I developed ans issues when I did because over time the cranial-cervical instability worsened, leading to more overgrowth of a bone at the top of my spine (odontoid) that puts pressure on my brainstem, esp if I don't keep my head up and back. That may not be the whole story, but I do feel better in a cervical collar.

[Tonibunny]

Hi,

I was diagnosed with EDS last week, with symptoms of both the hypermobility and the vascular type. My great grandfather died of a mitral valve prolapse, my gran (his daughter) died of a subarachnoid brain haemorrhage, and my mother is extremely flexible and can still do a backbend in her 60s.....she also has POTS symptoms but she's in denial that we have this running in our family and is refusing to see her GP about it

I myself have had severe scoliosis since I was a baby (first diagnosed at 6 months old, with a double Infantile Idiopathic Scoliosis curve of 64/40 degrees) but it was only when I was diagnosed with POTS that I started to link various symptoms together. Like, I have always bruised at the slightest knock, I have funny scars, etc. I also had severe bleeding problems in two of my surgeries, in 1986 and 2001. It feels quite strange that I "no longer" have IIS and that my scoliosis is now considered to have been caused by EDS.

For those of you in the UK, what sort of doctor manages your EDS? I was referred to a rheumatologist for diagnosis, but have been discharged from him as there is nothing else he can do. I will continue to see my cardiologist and have been referred for physiotherapy to teach me how to protect my joints. I had a raftload of blood tests but the results will get sent to my GP. The rheumatologist was up in Liverpool whereas I live in Shropshire so now I have a diagnosis I can hopefully see someone closer to home if I need to. I suppose the main thing is to continue to see the cardiologist.

As my spine is now fused all the way down (T1-L4) apart from one moveable vertebrae at the bottom (L5) I'm a bit nervous of the combination of EDS and the increased pressure that is expected on the unfused vertebra. It is accepted that this will wear out at some point, but I don't want that to happen too quickly! I had more surgery in June this year, to extend my fusion to L4 as the discs had completely degenerated and the whole fusion mass had slipped backwards.

Toni xx

[anna]

Hi,

Type 2 classical EDS isn't "mild"-----although it's has been said it's the milder version of of classical, people with this type still have the same problems as classical type 1, the part that's only milder is the skin manifestations.

Maxine :0)

Just read what I wrote the other day, (brain on stand by again, well it is most of the time I think!)

Yes what I meant to say is; we have EDS2 described by our geneticist as the same as classical EDS but presenting in us, milder than in EDS1, my skin stretches a little more than the norm but I scar oddly, one of my boys skin is like Mr. Elastic as were my dad and my granddad. My daughter and other son's skin is like mine some stretch but their's is very very delicate. We are all hypermobile with most joints slipping and sliding to various degrees. We have been offered a chance to see a specialist EDS team whom might be able to type us with more accuracy, but I declined at the time as we had had enought of Dr.'s! Not sure I should have done that now!!

Tonibunny

RE who looks after EDSers in the UK, you might have guest it already but it's, no one!! Ok that is not completely true if you are lucky like some your GP will manage your care, the problems arise when you do not have a helpful GP. You could pop over to the UK EDS site, you can find some helpful stuff on there re who might be of help.

Anna

[Maxine]

It seems like a lot of people with an English/Irish background have EDS. Especially seeing a website from England/UK. My family gene tree goes back to England and Ireland. We have some Swiss from my Grandfather's side (my Dad's father), but we're mostly English/Irish. When I read the Family History that my mother worked on for several years, some of her family was from England. My grandfather swore he was Irish, but he was both English and Irish.

Actually the EDS probably comes from my father's side of the family---------mostly Irish.

Mkoven, the problem with wearing the collar is that you can develop atrophy of the muscles in your neck. I was told to wear it only in the car, or when my symptoms become unbearable. When I wear it in the car, it's nice because it relieves the symptoms long enough to help me get errands done, or enjoy a social outing. My muscles already have some atrophy, and now my tendons and ligaments are having severe spasms that are very difficult to explain. Imagine a deep tearing and pulling sensation that stuns you making your mouth pop open. Then you sit there wondering how doctors don't get this, and how much longer your can walk around like this?????

I'm supposed to see a surgeon next week for a special kind of CT scan -------- rotating the head to the left and right. My geneticist felt this would show the degree of my instability better. Right now I have some kind of fluid buildup by my right mastoid area, but no history of ear infections, and had a complete ENT workup. There's no explanation of where the fluid comes from, although it's been there since 2005. There's also the swelling/edema in the right side of my my neck near clavicle----my husband first noticed this in May, and it hasn't gone away----it's just gotten bigger-----no explanation for this either.

I also have tissue growth on the odontoid bone, and have been told by at least 5 doctors that this is putting pressure on my brain stem, but unfortunately have been blown off by many neurosurgeons which is a shame because I have so many symptoms of brain stem compression. Two surgeons have taken this seriously----one neuro, one orthopedic. However, the neurosurgeon is not an option any longer, and I need a neurosurgeon also due to the vascular issue back there in my cervical/cranial area. The left vertebral artery has shown up in my neck, but all MRAs of my brain show it missing on the left. I still have no explanation what happened to this artery between the cervical/cranial junction. I have copies of my MRAs on CD-----I wish I could show you. There's just a big black hole where the artery should be in my brain, but yet an ultra sound of my neck showed blood flow in the artery in my neck. Meanwhile I have scary sudden headaches, and not one local doctor who can follow this. There's one neurologist I have seen in the past that has no clue on the seriousness of EDS. She's convinced my headaches are migraine related. I don not have migraine, and the headaches stem from my neck, or they are sudden onset stabbing/throbbing pain type headaches that come and go-----sometimes with the way I move my neck.

This is scary, scary stuff to be dealing with when all the doctors who understand it are out of town. My geneticst is going to be sending his clinical notes to my local physicians, and to the Cleveland Clinic in the hopes that they'll realize the seriousness of my condition.

Right now my thoracic spine is also giving me a lot of trouble, as the T-8 disk is desiccated. Lots and lots of pain, and it's really diffiuclt to watch my body mechanics, as any turns or twists take the wind right out of me. Do you realize how difficult it is for a very hypermobile person to control the fluidity of thier movements? A very fluid person trying to be robotic and calculated in every movement as our natural way of moving can damage us further. Every move must be calculated, and this just isn't realistic. I can't even get out of bed without making sure my feet are in the right position, and this also goes for getting up from a seated position. Moves other people never have to think about. Looking out my livingroom window--------(get up and physically turn my WHOLE body around). Crossing my legs will hyperextend my knees-------the list goes on and on..............................................................

Maxine :0)