Ehlers-Danlos

[sandysandy]

I have Ehlers-Danlos III.  My mother was diagnosed with fibromyalgia and my daughter clearly has a case of Ehlers-Danlos III.  So we think my mother (deceased) had  EDS III.  Amongst an array of symptoms that fit into the EDS III category, she had MVP but it wasn't diagnosed until after the birth of her 6th child and was never an issue during pregnancy or childbirth.  

My question is this, can cardiovascular problems develop as an EDS'r III ages?  I

do understand that in a study between a Cincinnati clinic and the NIH (ODonnell), that approx. 20% of a group of EDS'rs (II & III) were identified to have CV involvement.  But from the literature, I can't find if there is a risk for development of CV involvement as an EDS'r ages, more specifically an EDS III patient.   From my experience with geneticists, I've learned that sometimes there isn't solid science on a matter however there is a suspicion of something common to this group ....but this is only through observation and they relay it as so.  

Any suspicions or science on CV involvement in the aging EDS groups besides the one with expected CV problems (is that IV?)

[ronpaul4prez]

I'm assuming

heart problems sometimes develop later, after a diagnosis had been made, in people with Marfan Syndrome

[Bethanyatg]

I also have EDS type 3 and I have MVP. I haven't heard of a connection between us and CV issues but our collegen is weak everywhere in our bodies so anything is possible. I am a patient at the NIH study and have learned that there is an association between EDS and FMD (Fibromucular Dyplasia)  FMD is where the arteries take on a beaded appearance. The arteries become very narrow and strokes can happen. These arteries can be repaired so they must be watched closely.
You had mentioned that there is a study stating that 20% of EDSers may have CV issues. I would think that there is at least 20% of the non EDS community that would have some type of Cardio Vascular issus as well.
Frequent check ups are important for all of  us. Just because we have EDS type 3 doesn't mean that we can't have symptoms of the other forms.  An EDS type 3 patient could still get aneurysms like a VEDS patient.  An EDS type 2 (classical) could still have dislocations.  Get well informed and make sure your doctors are also well informed.

[sandysandy]

Thanks to both of you for your replies.  To add to your info 'Bethanyatg', it looks like FMD is more associated with EDS IV.  See below.

taken from http://www.fmdsa.org/research_abstract.html

"Presented at the American Society of Human Genetics Annual Meeting, Oct. 2006

A cohort of patients with generalized Fibromuscular Dysplasia and features of Ehlers-Danlos Syndrome: A new phenotype. N.B. McDonnell1, J. Yang1, W. Chen1, B. Griswold1, C.A. Francomano1,2. 1) National Institute on Aging, NIH, Baltimore, MD; 2) Harvey Inst Human Gen, Greater Baltimore Medical Center, Baltimore, MD.
  

The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue. Vascular dissections and aneurysms are a cardinal feature of the vascular form of EDS (VEDS) caused by mutations in COL3A1. Loeys-Dietz syndrome, a closely related phenotype, is caused by mutations in TGFBR1 or TGFBR2. We have identified a group of patients without mutations in COL3A1, TGFBR1 or TGFBR2 who presented with arterial dissections and aneurysms as well as stenotic lesions with a diagnosis of fibromuscular dysplasia (FMD) by pathology or radiology. Varying features of Ehlers-Danlos syndrome, such as atrophic scars, velvety or stretchy skin, joint hypermobility as evidenced by a high Beighton score, history of articular dislocations, uterine prolapse, joint pain, pectus deformities, pes planus and scoliosis were also present. Several of the patients had a family history of premature death from vascular events, as well as a family history of joint and skin abnormalities compatible with an autosomal dominant inheritance pattern. There were no reports of uterine or bowel rupture, or pregnancy related death in personal or family histories. The facial features were not characteristic of VEDS or Loeys-Dietz syndrome. The first patient identified was a 44 year old woman who had a history of carotid dissection, ruptured cerebral aneurysms, FMD of renal arteries and iliac vessels, multiple atrophic scars, frequent joint dislocations, and stretchy and doughy skin. A cohort of thirty patients with this syndrome has been identified and detailed phenotype and family history information has been assembled. The etiology of fibromuscular dysplasia is thought to be heterogeneous, with genetic and environmental factors proposed as possible contributors. Our findings suggest that there is a previously unrecognized variant of EDS, distinct from the VEDS and Loeys-Dietz syndrome, with FMD as a major clinical feature in addition to the skin and joint abnormalities. "

[beckie1308]

Hi I’ve only recently heard about Ehlers-Danlos Syndrome. I have been looking for something to explain and connect my numerous ailments. (otherwise its just bad luck);-) I have seen a geneticist regarding suspected neurofibromatosis but this has now been disregarded as a possible explanation. I’m female and 21.

I wanted to ask others with knowledge on the EDS what they thought, I am not particularly flexible, and wondered if all people with EDS are overtly flexible as I know there is more then just one classification of it……..?

I thought the best thing to do would be to list the problems/ characteristics I have and see what you experts think? Maybe I’m just grabbing at straws.

Thanks Beckie

Hullax valgus feet from birth. Both dislocate easily.
Idiopathic scoliosis. (present in both parents families, my mothers is severe at 87°)
keloid scaring?, scars wide thin and white/ numerous stretch marks, 5 x café au lait patches, bruise easily, achy joints.  calcium build up in neck vertebrae
Both my mother and I have small fatty growths on arms and legs.
2001- Ewings sarcoma of the spine L3, L4. Surgery/Chemo/radio
Continuing chronic pain in lumber region and neck.
2006- diagnoses of Wolfe Parkinson white syndrome & vasovagal syncope  
2007- dual chamber pace maker implanted
2008- left iliac fossa pain- concluded to be unexplained IBS.
and a few other things i have seen like the thin lips/nose and small lower jaw
Any help much appreciated!!!!
Let me know what you think please, I’m at the end of my tether xxxxxxx

[sandysandy]

Hi,

Try going on ENDF.com to look up profile of the different subtypes of Ehlers-Danlos.  Some medical articles have a list of related DX's for a differential diagnosis.  (making sure it isn't a related syndrome).  Much of it sounds like something on the collagen spectrum of disorders.  There are other physical symptoms which is part of the diagnosis,,,, yours are something to suspect when looking at these disorders.  So look there.  Otherwise, I am no doctor.  (My guess is that the cancer is just being "lucky" and unrelated to the rest.)

[sandysandy]

Correction..... it's EDNF.org