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Ehlers-Danlos
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?)
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?)
I have EDS III and I also have dysautonomia with it that keeps my heart at 200 without meds. My mom has just recently at age 78 developed subclavian steal syndrome which is where tHe main vessel that carries blood to the left arm and left side of brain have collapsed. She barely has blood pressure on the left side and passes out without warning. The drs now say she has eds as well. ROCKET SCIENCE
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My daughter went to her yearly geneticist visit.. Since she always gets slight bruising on her thighs... for no reason, seemingly... the dr. thought she should be tested for EDS II (the mild form of the classical type). She said it was a small chance but would be good to know. It turned out negative. So there is cross-over in symptoms but I think it is due to the way the types are delineated rather than actually being a different type. It's just the nature of the "game".
I hope you don't prove to be the vascular type, jawsUK. If it is any comfort to you, most EDS's with the vascular type don't live past their 3rd or 4th decade. So your aunt doesn't look as though she fits the profile and you are nearly there. However, the burst artery certainly is suspicious of being EDS related. Did you know that in families the same form of EDS is passed down but the level of severity that presents in each person with it is individual? So just because your aunt had a burst artery, you should be watched but it doesn't mean your life will follow in the same fashion. Good luck.
I hope you don't prove to be the vascular type, jawsUK. If it is any comfort to you, most EDS's with the vascular type don't live past their 3rd or 4th decade. So your aunt doesn't look as though she fits the profile and you are nearly there. However, the burst artery certainly is suspicious of being EDS related. Did you know that in families the same form of EDS is passed down but the level of severity that presents in each person with it is individual? So just because your aunt had a burst artery, you should be watched but it doesn't mean your life will follow in the same fashion. Good luck.
Hi Bethany/Sandy
Very interesting. I have been looking into this myself, as both my aunt (age late 50s) and myself (45) were diagnosed officially as HEDS.
However, a few weeks ago my aunt had a major vascular emergency (burst artery!) and nearly died. As she bruises very extensively, I immediately thought "OMG! VASCULAR EDS!"
I told her to inform the hospital vascular team about this possibility, and she has since seen our EDS specialist (Professor Grahame). He is sending her to be tested for VEDS, but this will take some time.
I thought that types ran true in families, but I am very much type III, so how does that work if she turns out to be vascular type?!
This made me consider the possibility that HEDS and VEDS could have some crossover symptoms. Like you both say, our tissues are fragile, so I suppose there is always the possibility that we could have a vascular episode. Like you say Bethany, we need to be aware.
I personally have had some symptoms which could be bleeding in the brain, or something similar, so am seeing a neurologist to get some of my scary symptoms checked out (so important now that this has happened to my aunt).
If we find out any more we should keep in touch!
Very interesting. I have been looking into this myself, as both my aunt (age late 50s) and myself (45) were diagnosed officially as HEDS.
However, a few weeks ago my aunt had a major vascular emergency (burst artery!) and nearly died. As she bruises very extensively, I immediately thought "OMG! VASCULAR EDS!"
I told her to inform the hospital vascular team about this possibility, and she has since seen our EDS specialist (Professor Grahame). He is sending her to be tested for VEDS, but this will take some time.
I thought that types ran true in families, but I am very much type III, so how does that work if she turns out to be vascular type?!
This made me consider the possibility that HEDS and VEDS could have some crossover symptoms. Like you both say, our tissues are fragile, so I suppose there is always the possibility that we could have a vascular episode. Like you say Bethany, we need to be aware.
I personally have had some symptoms which could be bleeding in the brain, or something similar, so am seeing a neurologist to get some of my scary symptoms checked out (so important now that this has happened to my aunt).
If we find out any more we should keep in touch!
Correction..... it's EDNF.org
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.)
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.)
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
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
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. "
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. "
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.
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.
I'm assuming
heart problems sometimes develop later, after a diagnosis had been made, in people with Marfan Syndrome
heart problems sometimes develop later, after a diagnosis had been made, in people with Marfan Syndrome
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