Ehlers-Danlos Syndrome

[RetiredGypsy]

I found out this is the underlying reason for my body's penchant for breaking joints, overly stretchy organs, tearing ligaments, being much higher in the likelihood for side effects of drugs and other oddities.

I always thought I was prone to injury through bad luck, since I tended to be so active. Instead I get to be part of two rare clubs, FIRE and this particular genetic condition.

Anyone else here living with this? Or at least heard if it?

 

[REWahoo]

How was it diagnosed?

https://www.ehlers-danlos.com/what-is-eds/

 

[Sunset]

Never heard of it before, just read about it.

How did you find out ?

Since it's usually inherited, any relatives with it ?

 

[RetiredGypsy]

How was it diagnosed?

https://www.ehlers-danlos.com/what-is-eds/

My orthopedic surgeon first suggested getting checked out when he saw how lax everything was during my fourth knee surgery, before the knee replacement. He wanted a diagnosis one way or another to determine whether a partial or full knee replacement would be necessary if that surgery failed. So I saw a rheumotologist, and then a geneticist who both bent everything in interesting ways and pinched and looked over my extensive medical history, and asked I forget what all questions.

Everyone else in my family thinks they're deathly allergic to medical offices, so as far as I know, it's just me.

 

[Katsmeow]

We adopted children from Vietnam who have EDS. I actually diagnosed it myself soon after we adopted them (this was almost 20 years ago). Well, I didn't diagnose it but I suspected it and raised the possibility to their pediatrician. In their case, the thing that I noticed was the hypermobile joints and the way their skin tended to scar. It was suggestive of EDS. As I'm sure you know there are different types of EDS.

The primary fear I had at the time was regarding the vascular form of EDS which is the only one that results in decreased life expectancy. I didn't think it was likely but felt it needed to be checked out. We were ultimately referred to a major children's hospital and to physician specializing in genetics and he diagnosed it very quickly after he saw the kids. The way my daughter was bending her arms was very suggestive of EDS. We were limited because we had very little medical history on them or their family (we did know their mother had died, though).

Anyway, at the time there was a genetic test that could be run to determine if it was the vascular form or not. You had to take a tissue sample from the arm and then it was sent to one particularly university and looked at to determine if it was the vascular form. At the time, it tooks weeks to get back the results and it was all very harrowing. (It is probably much easier and faster to do now - this was a long time ago). However, it was not the form that they had. They had the more common hypermobile form.

They are in their 20s now and really EDS hasn't been that much of a big deal of for them. My son could dislocate his shoulder at will. My daughter was more hypermobile than he was. He was more prone to dislocations although they didn't cause him a lot of issues.. She didn't dislocate but was very hypermobile. She is a black belt in karate and had to modify some of her moves to deal with the hypermobility. She does have some pain in her joints that seem tied to the EDS.

 

[Done at 49]

My son was diagnosed with Marfan's which is in the same family of genetic diseases.

 

[cooch96]

This is the first I’ve heard of it, but several of the symptoms describe me. My shoulders frequently slip during swimming, martial arts, and golf. Hips used to slip while running. Usually not too painful, rarely a full dislocation, and Some joints have stiffened up a bit over the decades to where I’m almost normal. Also, I once scared the dickens out of a young chiropractor when he pushed on me and my shoulder moved waay more than he expected.
The skin lesions that don’t heal thing is also familiar, but that didn’t start until 5 years ago. I figured it was just part of getting older.
So, I might have a milder form of it. Are there any tangible benefits to getting diagnosed?

 

[LARS]

I was diagnosed as a young child with EDS. Fortunately in my case it is/has been mild: generally impacting elasticity of skin (bruise easily).

So it has had negligible affect on my life to date. Indeed, only real impact was avoiding contact sports as I was growing up (e.g. football, etc.).

What the future holds is anyone's guess...

 

[LARS]

Are there any tangible benefits to getting diagnosed?

There are no "fixes" for EDS. So assuming you are well into adulthood (closer to 60 then 20 let us say) I would think, beyond curiosity, a diagnosis would be of little value.

The only real reason I can think of is if you have children and should they be alerted/concerned for themselves. Notwithstanding EDS is genetic, I do not remember if, or how, it is passed on hereditarily.

 

[RetiredGypsy]

Are there any tangible benefits to getting diagnosed?

For me, there were several. Due to the stretchy nature of everything, if I had gotten a partial knee replacement over a full one, it would have failed.

There's also some issues with certain families of medications that make them less effective, and others that tend to result in those rarer side effects. At least according to the doctors I've spoken with.

Knowing for the surgeons may have resulted in fewer adverse complications during and post surgery in the half dozen surgeries I've had over the years.

Had I known at an earlier age, I would have been much more careful in terms of what I did physically. Several broken bones and torn things and unfortunate side effects from the surgeries have become limitations, but I didn't need the diagnosis to get that maybe since I'm prone to injury I should cut back on the physical activity to some degree.

 

[LARS]

For me, there were several. Due to the stretchy nature of everything, if I had gotten a partial knee replacement over a full one, it would have failed.



There's also some issues with certain families of medications that make them less effective, and others that tend to result in those rarer side effects. At least according to the doctors I've spoken with.



Knowing for the surgeons may have resulted in fewer adverse complications during and post surgery in the half dozen surgeries I've had over the years.



Had I known at an earlier age, I would have been much more careful in terms of what I did physically. Several broken bones and torn things and unfortunate side effects from the surgeries have become limitations, but I didn't need the diagnosis to get that maybe since I'm prone to injury I should cut back on the physical activity to some degree.

What is the basis for your comment on efficacy of specific drugs that lead you, and doctors, that EDS is the cause?

 

[LOL!]

EDS runs in the family. Siblings are supposedly afflicted, but I think it must be mild for them. I have had many orthopedic injuries requiring surgery, but I am very physically active, so no physician/nor orthopedist has bothered me even though I always state my family history.

I imagine sequencing your DNA would confirm mutations in your collagen genes and confirm the diagnosis.

I will say that I had an experience with a geneticist which was hilarious because my wife did not tell him that my career was molecular biology and genetics. I felt the guy was an idiot. No offense to other geneticists. Maybe.

 

[RetiredGypsy]

What is the basis for your comment on efficacy of specific drugs that lead you, and doctors, that EDS is the cause?

I have no say one way or another whether EDS is the cause, but it was a consistent theme from multiple doctors across their various specialties. Orthopedic, anesthesiologist, psychiatrist, rheumatologist, the geneticist. I have no idea why, but when I have follow ups, I'll try to remember to ask.

I will say that I had an experience with a geneticist which was hilarious because my wife did not tell him that my career was molecular biology and genetics. I felt the guy was an idiot. No offense to other geneticists. Maybe.

I'm happy the geneticist I saw was at the Mayo Clinic. Otherwise I was having a bear of a time trying to figure out if there was such a thing as a board-certified geneticist.

 

[LARS]

I have no say one way or another whether EDS is the cause, but it was a consistent theme from multiple doctors across their various specialties. Orthopedic, anesthesiologist, psychiatrist, rheumatologist, the geneticist. I have no idea why, but when I have follow ups, I'll try to remember to ask.

Would be curious because in all my medical travels with Doctors, etc., I have never heard EDS having an impact on a drug use. Which is not to say you're wrong, but it would be news to me: notwithstanding prescription drugs haven’t played a big role in my healthcare... yet (knock on wood).


Thanks.

 

[NavAir]

Make sure you see an Ophthalmologist (if you haven't already). EDS can have some eye findings...

 

[Katsmeow]

Are there any tangible benefits to getting diagnosed?

In addition to the reasons others have mentioned, there are several different types of EDS. One type is the vascular type which results in fragile tissue which can rupture internally (such as arteries or organs). It is important for people who have vascular EDS to know so that they can try to prevent such ruptures or quickly treat them. Vascular EDS can be fatal and can result in shortened life expectancy. So, diagnosis is meant to help with preventing the type of events that can result in death. Most people with EDS don't have the vascular form. For my kids, once the vascular form was ruled out their EDS didn't require treatment. However, it was often useful to know that they did have EDS. When DD, for example, started having ankle pains and saw an orthopedic surgeon knowing she had EDS helped in figuring out what was going on. And, when she did karate, it was helpful to know that she had EDS because she knew certain moves that she should not do because it would make her joint laxity worse.

 

[outdoorgirl02]

I am hyper mobile but don’t meet all the criteria for EDS. I also have a few of the common comorbid conditions that can go along with it. Looking back at my younger years, it helps explain my ridiculously flexible ankles, especially the right one which I broke 4 times.

 

[LOL!]

Re: drug side affects, Cipro (and similar antibiotics) are associated with ruptured tendons (unrelated to EDS).

https://www.webmd.com/osteoarthritis/news/20080708/fda-warning-cipro-may-rupture-tendons.

I imagine that EDS folks will want to know about that. A runner friend of mine actually did rupture his tendon and he was on Cipro.

 

[eytonxav]

My daughter has a mild form of EDS. She was seeing a cardiologist for POTS and he thought she was also being affected by EDS. He referred us to a geneticist and he confirmed a mild form of EDS. She definitely has hypermobile joints.

 

[LARS]

My daughter has a mild form of EDS. She was seeing a cardiologist for POTS and he thought she was also being affected by EDS. He referred us to a geneticist and he confirmed a mild form of EDS. She definitely has hypermobile joints.

Man I have to stop reading threads like this: POTS. Didn’t know what it was so looked it up.

To paraphrase the Bard: there are more things in medicine that can go wrong, Horatio, than are dreamt of in your philosophy...

 

[outdoorgirl02]

Man I have to stop reading threads like this: POTS. Didn’t know what it was so looked it up.

Yeah, POTS is such a frustrating syndrome. I developed it just over 2 years ago as a result of nerve damage from an autoimmune disease. I had never even heard of it before it hit me.

From WebMD about POTS:
POTS is a fast heart rate (tachycardia) that starts after you stand up. This can suddenly happen as long as 10 minutes after you stand.

With POTS, the body does not control blood pressure or heart rate as it should after you stand up. So for a brief time, you may not get enough blood to your brain. This can make you feel dizzy and lightheaded. You might faint. Sitting or lying down helps you feel better.

 

[RetiredGypsy]

Yeah, POTS is such a frustrating syndrome. I developed it just over 2 years ago as a result of nerve damage from an autoimmune disease. I had never even heard of it before it hit me.

From WebMD about POTS:
POTS is a fast heart rate (tachycardia) that starts after you stand up. This can suddenly happen as long as 10 minutes after you stand.

With POTS, the body does not control blood pressure or heart rate as it should after you stand up. So for a brief time, you may not get enough blood to your brain. This can make you feel dizzy and lightheaded. You might faint. Sitting or lying down helps you feel better.

Until I knew what POTS was, I always just said I stood up too fast when I suddenly felt lightheaded. Now I know why. At least I've never actually passed out from it.