Those With Eds, Please Have Aorta Checked Regardles Of What Type Of Eds

[Maxine]

This is so important---have your aorta checked regularly if you have ANY type of EDS-----even if your doc has said benign hyper mobility-----get it checked anyway.

Today I received very bad news. My friend's daughter called and said her mother died from aortic complications after a surgical procedure on her lower spine. She had been suffering from wild swings in blood pressure for weeks, and in and out of different ERs.

Vascular complications can happen with all types of EDS.

Please keep her family in your thoughts and prayers. Her daughters have lost both thier parents now. Their father died of a tragic car accident just over a year ago.

Maxine :0)

[juliegee]

So sorry for your loss, Maxine. How tragic! Great advice to us all. I wonder how often we should have it checked? Your friend's daughters will be in my prayers.

Julie

[mkoven]

What terrible news!

I'll echo Maxine's urging that those with any type of eds get regular echocardiograms. I"ve heard once a year is standard, unless it seems to be growing, and then it may be every 3-6 months. I've just had a bit of a scare, as mine was measured as having grown quite a bit in one year. I'm now having one of the top cardiologists who specializes in connective tissue disorders remeasure to see if it has, or was mismeasured. The tricky thing will be, if it has grown, as it will impact my ans treatments. BP and pulse have to be kept quite low and stable (ha!) if you have aortic enlargement. Apparently many edsers have mild enlargment, but that is stable. this should also be followed.

[Maxine]

Thank you----------------She has two daughters, and I have been on the phone with them, and I also talked with her mother today.

As it turns out her aorta was thinnning, but this couldn't be seen on the cardiac echo. I don't want to scare anyone, just keep them informed. I think maybe an MRA of this area might serve well to check more closely.

She had lumbar spine surgery this Monday, and came through the surgery fine. The EDS had affected her spine so badly that they moved her up on the waiting list. She had surgery in Cincinnati with a spine surgeon familiar with EDS complications. Her BPs started to drop lower then her usual after the surgery, and knowing of her EDS vascular surgeons were called in, so I'm assuming they tried to repair the aorta, but sadly after working on her until 4:30 the next morning, she didn't make it.

She had been having wild swings on BP, and her pulse pressures were very narrow. She went to the ER several times, but was dismissed as having "anxiety". I suggested she see Dr. Grubb because of the serious nature of her BP swings, and ask to at least be put on a beta blocker to lower the high BP swings if they found this appropriate. This was definately not her normal, and I was very concerned-----------she needed to be taken seriously. One of her ER docs finally called Dr. Grubb's office and got her in sooner. She saw Dr. Grubb last Monday, and that's all I know of before I heard she passed away. I don't know if Dr. Grubb prescribed the beta blocker, or another doc----- but she was put on a low dose. I took her to the appt with Dr. Grubb because she couldn't drive. He was running behind, so she came to my house for a couple of hours. I live very close obviously. One doctor I can see that isn't out of town. I'm glad we had this time together last Monday--------I had no idea I would never see her again

They depleted the blood supply at the hospital trying to save her. Another one of her docs here locally blew her off as well. Very narrow pulse pressures can be a warning that something is wrong with the aorta.

I will be going to the funeral home Sunday to see her, and the funeral is Monday.

Maxine :0)

[Maxine]

Yes Mkoven, avoiding high BP swings, and narrow pulse pressures in very important. I know we need to avoid really low BPs, but better to be a bit low then too high with EDS.

When I was at the NIH study, Dr McDonnell said I need to watch mine closely due to the enlarged right vertebral artery making up for the one missing on the left. Due to my cervical/cranial instability kinking this artery, and the poor vascular tone, I have been working with the Cleveland Clinc on understanding the vascular complications with ALL types of EDS. I had a good healthy debate with the NSG I saw there, and it seems he might be willing to take it seriously. He does see abnormalities in the c1-2 area, but feels the risk of surgery out weighs the benefits fearing damage to the right vertebral artery during surgery. I told him that I would be happy if someone there would just be willing to watch things more closely due to my worry about this artery, the recent swelling in lower right side of my neck near clavical that is still there and getting worse, and the headaches localized to this area.

He ended up making an appointment with an orthopedic surgeon/NSG----I'll see him on Sept 30th. I will also see the neuromuscular neurologist again for a two month followup on Sept. 14th.

It's time the medical community takes the responsibility of realizing how serious EDS is.

Maxine :0)

[Maxine]

I wanted to post this link to an operative link on aortic ruptures;

http://ejcts.ctsnetjournals.org/cgi/content/full/28/4/650

I seems normal clamping can cause more bleeding, and make the survival rate less likely.

More vascular surgeons, and other general surgeons need to learn more about connective tissue diseases.

Maxine :0)

[juliegee]

So sad and infuriating to hear of the details of your friend's odyssey. With wacky autonomic nervous systems it's so hard to tell if it's something serious. My little brother was found to have a very enlarged aorta. His surgery to replace it was scheduled over a month away. During that time, he called me periodically to tell me how much his chest hurt, etc. He went to the ER several times and was also basically dismissed. He made it to his surgery date & his surgeon was shocked to find his aorta already had several perforations prior to the replacement. It turned into emergency surgery. Grrrrr. Unlike your friend, he made it.

Good advice for us all, Maxine.

Julie

[Maxine]

Julie,

I'm so glad your brother had not suffered the same fate as my friend. I guess I shouldn't be surprised on what happened to your brother, but somehow this dismissive attitude never stops amazing me. How can someone blow off chest pain when they know an aorta is enlarged already?

Today I feel so lost--------------------I've witnessed so much neglect from the medical community, both personal, and what I have seen with so many of your experiences.

I'm so sick of the obtuse state of mind of some of these doctors-------------or could they just be very, very lazy????

There's obvious discrimination-----especially with woman.

I would tell you more about her experiences, and experiences in my family, but there's such egregious neglect that it's too disturbing.

Thanks for all your support an understaning, her family really needs your thoughts and prayers.

Maxine :0) MKoven please keep us posted on your condition-------------I'm glad they are watching you closely.

[Janey]

Goodness, how awful for that family, those poor girls. I'm rather confused about what happened.. did the aorta rupture? Could all us EDS-ers be prone to this?

Janey

[abbriggs]

Would someone please explain Eds to me. I do not know what it is.

Thanks

[Maxine]

Out of respect for her family, I called her daughter to get her permission to post about her mother. She had no problem, and we both agreed that this information needs to be shared, as it may help others.

"Individuals with EDS have a defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein, which acts as a "glue" in the body, adding strength and elasticity to connective tissue.

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms. Each type of EDS is a distinct disorder that "runs true" in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS."

Hopefully this link will work.

http://www.ednf.org/index.php?option=com_d...Itemid=88889062

Even if someone is NOT diagnosed with "vascular type IV" , they still need to have thier aorta checked regularly. Other types of EDS CAN have vascular complications, or vascular involvement, but it's considered to be less likely.

There may be certain crossovers of other types of EDS with components of vascular type. My friend was diagnosed with hypermobile type EDS, but her aorta thinned and ruptured. The cardiac echo did not pick up the wall of the aorta thinning. The wild swings of her blood pressure with narrow pulse pressures may have contributed to the rupture. She also had a bowel resection a couple years ago that had a very difficult time healing, and this is what prompted investigating weather or not she has EDS----------------She saw a geneticist and got the confirmed diagnosis not that long ago----maybe several months.

Although it's not likely for a large population of other types of EDS other then type IV vascular to have medium and large vessels rupture, it's still important that Echo cardiograms be done on a regular basis, and this should be extensive covering the corroded arteries also.

Even though my friend had her echo cardiogram done, it did not pick up the wall thinning of her aorta. This could have possibly happened suddenly due to the very malignant BPs she was having. I really don't know exactly how it happened other then it was after surgery which was NOT near her aorta, as it was her lower spine.

She informed the docs in the ERs of her situation, but told me she wasn't taken seriously.

Maxine :0)

[mkoven]

They are watching me closely because I keep track of what my aorta measures year to year and was struck by the change. The cardiologist herself did not say anything until I said, that's 8mm bigger than last year.

So if you have a suspected connective tissue disorder, you should be getting echocardiograms. You should also know your aortic root measurement and be ready to ask for followup if there is any change. "Normal" is under 3.7, but there are adjustments for body size, age, and gender. In someone without connective tissue problems, surgery is usually warranted when you get to 5.5. In someone with EDS or Marfan's, the question of surgery is often raised at 4.5.

My aortic root went from 2.8 to 3.6 in a year. I got it remeasured at 3.3. That doc is now comparing all three films to see how much of the difference is measurement error, so we can really know where I stand and how much it's grown, if at all. 3.3 isn't a bad a number in itself, though a little big for a short 42 year old woman. 3.6 is at the upper limit. But the big issue is the rate of change.

I"ve heard that as many as a third of classical and hypermobile edsers have somewhat enlarged aortic roots, but that typically don't tend to progress. But tracking them over time is important, to be sure. If you do go to the ER with chest pain and an eds diagnosis, aortic dissection is usually the first thing they want to rule out. this is a reason to get a diagnosis in itself. just telling the doc you're flexible or hypermobile will probably not set the right studies in motion.

so i'm being closely followed because I reacted to the change in number. because it was still technically "normal," I don't think anything would have happened without my asking more questions and pushing. In other words, we do have to be proactive and informed.

[flop]

I had an echo to specifically look at my aorta done just last week. I hadn't had an echo for several years and I don't know if they had looked closely at the size of my aorta previously.

I asked for the echo because I was refused life insurance cover. The insurance company said that I ws high risk for aortic dissection because I have hypermobile EDS. My cardiologist thought they were wrong about my risk but ordered the echo for me anyway. The technician who did they echo said everything was fine but wasn't allowed to give me any details. I don't have follow up with my cardiologist for ages so I think I will phone and ask for a copy of the echo report (in the UK we don't usually get copies of any results or notes about us).

Maxine, I'm thinking about you and your friend's family - I hope that awareness of her death will prevent other premature deaths from EDS complications.

Flop

[persephone]

Sorry about your news, Maxine. It's interesting you mention this because my mum and I are EDS type 3, but my uncle (her brother) had an Aneurysm at 37. Not aortic I hasten to add- subarrachnoid, but it does make me wonder if ALL EDS folk are more at risk of this sort of thing, not just type 4. Although, he seems more like a type 4 because he has pectus carinatum (pigeon chest) as well as othe features.

[Maxine]

Thanks again for your replies and support---

Yesterday we went to visitation, and today I went by myself to the funeral service as my husband had to work.

It's so very sad, and It's still not registering that she's really gone. Yesterday I talked with her sisters, and they were saying they didn't know she had vascular EDS. I told them she wasn't diagnosed with this type, and this can happen with hypermobile or classical EDS also, and the NIH study has been seeing crossovers of other types of EDS with vascular problems. I don't think anyone knew this would ever happen. It's in the back of our minds, but when it's hits someone close to you---------reality smacks you in the face.

Her mother told me today to keep fighting to get the word out there on EDS, then she said, "I know your really dedicated."

I'm really struggling with the headaches, and yesterday it was bad, and worse today. I got upset with my Dog who has beeen acting a little crazy lately, and I could feel such pressure at the back of my head, it felt like a balloon ready to pop. I'm trying to get into the CLeveland Clinic sooner for my appt. I just called today, but too late. I'll have to call tomorrow. I think something isn't right at my cervical/cranial junction. I can't turn my head to the right, or tip my head back without sharp dagger pain. I have that vertebral artery that's enlarged on the right, and I have no idea if it's getting worse or not. The NSG from the CC was looking at an MRI that was 6 months old.

It's time to get some rest............

Maxine :0)

[icesktr189]

How do you get checked for EDS? i might have it because i do have it where my joints on my hands and feet are very flexible (can bend fingers all the way back).. just curious

and so sorry for the bad news.. ill keep that family in my prayers

[mkoven]

In the US, the best bet is a geneticist. They (should) have the most thorough understanding of all the different systems a genetic defect in collagen can impact. But not all geneticists are up on the latest research. You might want to go to www.ednf.org for a list of doctors knowledgeable. If you have a really good pcp, and express your concern, he could probably send you for an echocardiogram to rule out any dilation of your aorta. But geneticists are the specialists here. Some have seen rheumatologists, but I haven't had good experience.

[icesktr189]

thanks tons! in the past year i have put off testing and just dealt with symptoms, but now i am pregnant and want to rule out issues i might have