Chari Malformation, Ehlers-Danlos, MS mimic?

[ccorina]

I've been meaning to post about ehlers- danlos syndrome for a while, and Addi's post about her daughter, and then about her scoliosis and other damage finally made me do it :)

I was looking up some randomness on the internet with the kids when we saw a picture of a hand with all the fingers folded over each other.  It said it was a sign of "ehler's-danlos syndrome" which I had never heard of so I looked it up (as I can do that with my fingers).  This lead to finding symptoms of ehler's-danlos syndrome that fit with what I have.

Basically, ehler's danlos syndrome is a connective tissue disease.  One of the hallmark features is hypermobility, which I have.  Also stretchy skin and joint pain without inflammation.

Some of the symtoms we are all familiar with - pins and needles, numbness, brain fog, migraines.  I was amazed at the similarities.  As I research more and more it becomes a real possiblity for me.

But what made me think of Addi, was that I just read that Chari Malformation is common in people with Ehlers-danlos syndrome.  Also Ehlers-danlos is genetic so could be passed from mother to daughter (as is probably my case).

I would encourage everyone who is even slightly double-jointed, or hypermobile to research this as a possible MS mimic.  I know on the surface that doesn't seem to relate, but it does.

Corina

[jenniferk86]

actually, I probably don't , im just extra flexible... thanks for the info everyone.  I am just trying to get my health back and figure out what is all wrong with me, so I can fix and deal with anything fixable or not.  

[ccorina]

Addi - everytime I look at pictures of EDS I think "can't everyone do that?"  Until I started researching this, I had no idea that I was different.

Thanks for the link there's good stuff on there.

Corina

[addicted2harleys]

Real quick cause I am not ready to respond just yet, here is a URL that has really thorough info and an image gallery:

http://www.ednf.org/index.php?option=com_frontpage&Itemid=1

Addi

[twopack]

Is there any history of this disease or another joint hypermobility in your family Jennifer?  I found the site link given above a little confusing.  It lists signs of Ehlers-Danlos as well as signs of another syndrome which some clinicians confuse with Ehlers-Danlos.

I don't know your additional history and symptoms but easy bruising has multiple causes and many people have great flexibility of their joints and skin that still falls within the bounds of normal.  I'd suggest an internet search for Ehlers-Danlos pictures.  It is easier to get an idea of the extremes seen in the disease by looking at pictures than by reading descriptions.

You can still mention it to your doctor of course.  I just like to be clear before I plunge into questions.  I've heard too many stories now of people laughted out of offices.  I do hope you find answers that help you feel good and live strong.

Mary

[jenniferk86]

huh... maybe I do have this too.. and will ask my dr.  I have an appointment with a nuerosurgeon for my chiari, and he will and probably does know about ehlers danlos... so maybe I will just mention it.  I can bend my pinky back just at 90 degrees, but I can bend the tips of my figers towards my palm without bending my first knuckles... my skin bruises easily and I can pull the skin off my hand and elbow fairly far.

[twopack]

Jenniferk86 said, "I dont know how hyper mobile you have to be... I can bend over place my palms on the floor and touch my nose to my knees...without being stretched or having stretched in a long time.. is that hypermobile?"

Yes, that is one sign.  Others would be a pinkie (or both) you can pull back more than 90 degrees, a thumb(or both) that will flex to reach the forearm, or hyperextension of elbows and/or knees beyond 10 degrees.

I know there is genetic testing available for Ehlers-Danlos (there are several different types of the disease by the way).  I'm sure this is expensive and have no idea if the diagnosis can be given without DNA tests.  I'm not sure about other testing measures either.  There are specific history and physical exam variants doctors will look for if they suspect Ehlers-Danlos.

Mary

[ccorina]

here's a site that shows the criteria for Ehlers-Danlos:

https://online.epocrates.com/u/2936570/Ehlers-Danlos+syndrome/Diagnosis/Criteria

double-jointed is being able to bend the first joint of your fingers (for example) while keeping the second joint straight.  There's other examples I can't think of right now!

But yes, putting you palms on the floor is one of the diagnosit criteria for hypermobility.  

Hypermobility version of ehlers-danlos does not have a genetic test, just the criteria.  Other forms of Ehlers-danlos can be tested genetically.

With hypermobility and easy scarring and any other MS like symptoms you really should mention Ehlers-danlos to your doctor.  One problem, however, is that not many are familiar with the syndrome.

Corina

[jenniferk86]

ok.... I was on here for a while because doc thought I had ms.  I had a brain mri and they said i have chiari 1 malformation... it is definitely a mimic... so many of ms symptoms can be caused by chiari .  I also wonder about ehlers danlos, but I dont know how hyper mobile you have to be... I can bend over place my palms on the floor and touch my nose to my knees...without being stretched or having stretched in a long time.. is that hypermobile? also what is double jointedness and how do I know if I have it?  I scar very easy, from like a fingernail scratch.. could this be ehlers danlos? is there a test for ehlers danlos?