Ehlers Danlos Syndrome

[onedaytime61]

I had a genetic test for Ehlers Danlos that came back negative.  My genetic Dr. said the genetic test is 50% and I could still have Ehlers Danlos Syndrome.  I had a MRA done and it came back as effacement of the sinotubular junction for dilatation of the aortic root.  This finding can be seen in Ehlers Danlos Syndrome.   I do have mitral valve regurgitation being monitored yearly.  My sister is a nurse and states that since my test came back negative I do not have Ehlers Danlos Syndrome.  I am looking for clarification of the test and what does the MRA mean?

[qwertyu67]

I too have had struggles getting Ehlers Danlos diagnosed.  Everyone says:  That's not my speciality. Ours is probably Type IV which is the vascular type.  Here's some fellow travelor's advice ONLY from my own experience and my own medical research--for what it's worth.

First and most important, go to a pharmacy and buy a Medic Alert Bracelet.  On your card write "Aortic Root Dilation:  at risk for aortic dissection or aneurism"  or something similar.
WHY you have the condition (ARD )is not as important as what happens to you emergently should you have a crisis event. Tell your spouse and remember yourself what to say at the emergency room should you have chest pain or abdominal pain or severe unexplained pain anywhere.  I promise you, ambulance and ER personnel will take Aortic Root Dilation and chest pain very seriously.  You need to be your own advocate.
         Marfan's Syndrome can also cause long term dilation of the aorta and it usually is carefully followed over a period of years to ascertain increases in size and consequent danger of rupture.
         Mutations in Collagen 3A1  account  for Ehlers Danlos IV, which is the vascular type.  There is an initial skin biopsy that can be done which if positive, is followed by further genetic testing. The skin biopsy has a probability factor --but the final testing for mutations in Collagen 3A1 is firmly diagnostic.  If it is negative, you do not have ED IV.
However,  you DO have a diagnosis of Aortic Root Dilation and that is reason for seeing Cardiologist and/or vascular surgeon.
No matter the challenges, please keep up your search for help.

Judy

[Sissy70]

I have been diagnosed with Type II EDS. The genetic testing is normally done for Type IV. The other types are done by a check off list. I can't remember the name of this test. The doctors check for certain things on your body (skin characteristics, hypermobility, etc..) and if you have 6 out of the 10 things they check then they can confirm the diagnosis. I had a geneticist perform this check, but I believe that usually a rheumatologist or orthopedist are normally the ones that do this. I hope you are able to get some answers for you and your children. It is horrible for doctors to treat you like you are crazy. This is not an easy thing to get diagnosed since it isn't a common problem. Good luck and do not give up. I traveled a pretty good distance to several doctors before someone finally thought of EDS and then another doctor confirmed it. I wish you and your children the best.

Danielle

[onedaytime61]

Thank you for setting me straight.  Was not sure what was going on.

[malaurie]

Hi-my son had the genetic skin tag test 2 years ago at 6.  Even though it does rule out the most severe form of eds, it does NOT test for the other forms(I think there are now several?)  I did learn that vascular eds can be ruled out but that vascular symptoms such as you describe often overlap the other types.  We do not have vascular, and the geneticist said he had too many overlapping symptoms to give any clinical diagnosis.  He told us to be happy that he wasn't dead from the lethal forms!!!  We even tried Shriners and they confused our info and we did not get to see an actual dr.
Now my daughter has developed a chest wall deformity that I am learning is a connective tissue thing assoc. with eds.  We have a cardiology appt. in Sept for that-I am fairly sure the drs will call it another coincidence.  We are frustrated but blessed that no heart problems have yet occurred.  We have several children, most of whom show the classic signs of ehlers danlos.   I would tell the geneticist you want to ask them questions about the test.  Ours sat and talked to us for 45 minutes, because family history is just as important as genetic testing in this.  Your aortic root needs to be watched regularly to monitor for aortic dissection if it is stretching.