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Is ME due to Ehlers-Danlos Syndrome "stretchy veins"

Allyson

Senior Member
Messages
1,684
Location
Australia, Melbourne
Yes, you referenced Dr. Don Lewis, one of the authors of the International Criteria, but what you quoted had nothing to do with EDS:

Sushi


i dd not want to mention names Sushi but that doc has also refered at least one ME/cfs patient for genetic testing for EDS so it is not highly implausble or unrelated at all.

ANother major and well known and highly respected ME/cfs specialist here with decades of experince specialising in ME - whose name i will PM you if you like - also has been know to tell patients that Me is due to "stretchy viens"


best


Ally
 

Allyson

Senior Member
Messages
1,684
Location
Australia, Melbourne
Perhaps as more is learned about genetics and genetic predispositions we will get a clearer understanding of if/how EDS and ME might/might not be related.

For quite a lot of things the doc asks "Anyone in the family have...?"

There's a lot of anecdotal evidence that ME and the autistic disorders could be linked as many ME parents have at least one child somewhere on the spectrum.

The same may prove true about EDS in whatever form.

We just don't know yet do we?

What we know about dysautonomic illness is pretty scrappy too but lots of us have at least one dx that is related to a busted ANS.

I have found what Allyson and others have posted interesting. I've missed a lot 'cuz I'm struggling to get on top of yukkiness right now, but what I've seen looks interesting.


Will it answer the question of ME being "caused" or "linked" or even a result of ME? I doubt it because know so little about both ME and all the EDS flavours so far.

As I have two daughters with Gorlin's sign and a son who is blind in one eye and a daughter who has been seriously ill with undx gut probs and another son with type 1 diabetes I am interested in the genetic side of things; EDS, autoimmune, whatever.

We don't have many answers but it's still interesting to see different POVs. from reading different research or knowing people who have truck loads of good experience. In fact I sometimes, well ok, OFTEN, think we can learn more from a coal face worker than a research paper.

Oh and HAPPY BIRTHDAY ALLYSON :balloons:





HI Shell

so sorry to hear you have been feeling poorly, and thanks so muchfor the birthday wishes - much appreciated, esp as I have not been too well myself lately.

It must be difficult caring for four children while you are that ill - let alone their problems too; my sympathies and admiration go out to you.

(I have heard type 1 Diabeties is on the increase - dramatically so - and as for asthma the reasons are still unknown; hope they manage to find something useful soon for your son's sake - at least it is getting plenty of research.)

Yes i agree, the research process is at least interesting and exciting at times.

An yes , alas both diseases have been tragically overlooked and underresearched so far (except for brave few pioneers to whom we are grateful).

My hope is that with the internet speeding up the pace of everythig including communication and the exponential potential of genetic and epigentic research things might soon change and we will have some answers. (An epigenitic based drug treatment has been developed for ventricular fibrillation which is a major breakthough - so there may still be a way for drug companies to make money from ME/EDS/OI/POTs etc.)

BTW if anyone has or comes across an article on the occular manifastations of EDS - I thought it was posted here but it may have been another forum - would they mind reposting it or PM it to me please?

Many thanks in advance..


Best Allly
 

Sushi

Moderation Resource Albuquerque
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i dd not want to mention names Sushi but that doc has also refered at least one ME/cfs patient for genetic testing for EDS so it is not highly implausble or unrelated at all.

best
Ally

So what does referring a patient for genetic testing have to do with the premise that ME is due to EDS? A responsible doctor who detects signs of EDS in a patient who has not been diagnosed with EDS would most likely refer them for further testing to get a full clinical picture.

A doctor would also refer a patient for TB testing if he/she saw indications of it. This doesn't mean that TB is related to ME.

My ME specialist recognizes that I have EDS but he certainly does not think that EDS causes ME--he recognizes that I have two conditions.

Sushi
 

ukxmrv

Senior Member
Messages
4,413
Location
London
The problem with no "naming names" is that it is not out on the open for people to comment on and share information. What is one patients "world known expert" is another's "Simon Wessely" (just using an extreme example to make the point clear)

Just as an example and nothing to do with EDS.

Dr Lloyd has had a long career with CFS in Australia. However, older patients remember him for his "it's not infectious" stance of the 90's also his fatigue clinic and exercise.

So, there are opinions on doctors.
 
Messages
10,157
I am afraid this is QUITE incorrect information you have read Kina

there are at least 10 classification of EDS and skin hyperextensibility and joint hypermobiliity are features of EDS Type 3 - not of the other types.

The categories are currently under review as more research is undertaken

In the musculo - contractural type of EDS for example you have the total antithesis of hypermoblitiy - joint and muscle stiffness.

As connective tissue is affected in different ways the manifestations also vary from person to person.

I would be interested to see sources when you are citing research as there are not many available.

thanks for the input.

Ally

This comes from an EDS site:


Ehlers-Danlos syndrome is essentially a collection of disorders that impact the connective tissues, which provide support for organs such as the skin, blood vessels and bones. Connective tissue defects cause the symptoms and signs of the Ehlers-Danlos syndrome; this ranges from life threatening complications to mildly loose joints.

In past years, in excess of 10 recognized varieties of Ehlers-Danlos syndrome existed. However, in 1997, a simpler classification was proposed by researchers which decreased the major types of the ailment to six and assigned descriptive names to them. They are:

The Arthrochalasia type
The Dermatosparaxis type
The Vascular type
The Kyphoscoliosis type
The Hypermobility type
The Classic type

ME is not a collection of disorders that impact the connective tissues. Connective tissue defects do not cause the symptoms and signs of ME. I have read quite a few descriptions of ED from many sources. Whether it's six or ten subtypes, it still doesn't change that EDS is a connective tissue disorder with a genetic basis. It doesn't change the fact that EDS and ME share no major diagnostic criteria.

Another site has these subtypes:

Untitled.png


These subtypes exemplify the differences between a ME and EDS diagnosis.

Here are just a few examples of some of the research on EDS (I can provide more).

Skin signs in Ehlers-Danlos syndrome: clinical tests and para-clinical methods.
Scandinavian journal of rheumatology 2010

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.

Type IV Ehlers-Danlos syndrome presenting as recurrent, bilateral carotid dissections Publication 4877056 2012 Lance 2010

Severe conjunctivochalasis in association with classic type Ehlers-Danlos syndrome
Publication 4877056 2012

Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report
Publication 4877056 2013

Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
Publication 4877056 2012

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss.
American Journal of Human Genetics 2012

The Ehlers-Danlos Syndrome, a disorder with many faces.
Clinical Genetics 2012

Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. Journal of Clinical Endocrinology and Metabolism 2013

Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.
European Journal of Human Genetics 2012

Ocular Features in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type: A Clinical and In Vivo Confocal Microscopy Study.
American Journal of Ophthalmology 2012

A case of mosaic Ehlers-Danlos syndrome.
Australasian Journal of Dermatology 2012

Laparoscopic management of colonic complications in Ehlers-Danlos syndrome type IV.
Journal of Pediatric Surgery 2012

Spontaneously ruptured splenic aneurysm in a young patient with Ehlers?Danlos syndrome
Publication 4877056 2011

Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature
Publication 4877056 2011

Spontaneous coronary artery dissection in ehlers-danlos syndrome.
Annals of Thoracic Surgery 2011

Natural history of spinal deformity in a patient with Ehlers-Danlos syndrome: case report with 20-year follow-up.
The Spine Journal 2011

Mild Muscular Features in Tenascin-X Knockout Mice, A Model of Ehlers-Danlos Syndrome.
Connective Tissue Research 2011

Endovascular repair of multiple infrageniculate aneurysms in a patient with vascular type Ehlers-Danlos syndrome.
Journal of Vascular Surgery 2011

Impairment and impact of pain in females with ehlers-danlos syndrome: A comparative study with fibromyalgia and rheumatoid arthritis patients.
Arthritis and Rheumatism 2011

Successful coil embolization for rupture of the subclavian artery associated with Ehlers-Danlos syndrome type IV.

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.
European Journal of Human Genetics 2009 Full Text: PubMed Central

Aspects on dental hard tissues in primary teeth from patients with Ehlers-Danlos syndrome.
International Journal of Paediatric Dentistry 2009

Contemporary management of vascular complications associated with Ehlers-Danlos syndrome.
Journal of Vascular Surgery 2009

Neuromuscular involvement in various types of Ehlers-Danlos syndrome.
Annals of Neurology 2009

Vascular complications from anterior spine surgery in three patients with Ehlers-Danlos syndrome.
Spine 2009

A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of ehlers-danlos syndrome.
Obstetrics and Gynecology 2009

Ehlers-Danlos syndrome, type 4
Orphanet 2007

Ehlers-Danlos syndrome (EDS)
GP Notebook 2010

Dysphonia-A rare early symptom of Ehlers-Danlos syndrome?
International Journal of Pediatric Otorhinolaryngology 2008

Multiple spontaneous dislocations in a patient with Ehlers-Danlos syndrome.
Emergency Medicine Journal 2008

Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies.
British Journal of Dermatology 2008

Rescue of Migratory Defects of Ehlers-Danlos Syndrome Fibroblasts In Vitro by Type V Collagen but not Insulin-Like Binding Protein-1.
Journal of Investigative Dermatology 2008

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome-An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13.
American Journal of Human Genetics 2008

Acute diaphragmatic rupture in a patient with Ehlers-Danlos syndrome.
Journal of Emergency Medicine 2008

Isolated giant aortic aneurysm in an infant: Ehlers-Danlos syndrome type IV.
Annals of Thoracic Surgery 2008

Ehlers-Danlos Arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood.
Clinical Genetics 2011

Ehlers-Danlos Syndrome
Mentor 2008

Ehlers-Danlos Syndrome (Follow-up)
eMedicine.com 2011

Ehlers-Danlos Syndrome (Diagnosis)
eMedicine.com 2011

Ehlers-Danlos Syndrome (Treatment)
eMedicine.com 2011

Ehlers-Danlos Syndrome (Overview)
eMedicine.com 2011

The role of postmortem study in the diagnosis of the cause of death in a young man: a rare case of Ehlers?Danlos syndrome type IV
Publication 4877056 2010

Occult small bowel perforation in a patient with Ehlers Danlos syndrome: a case report and review of the literature
Publication 4877056 2010

Cross-Sectional and Longitudinal Assessment of Aortic Root Dilation and Valvular Anomalies in Hypermobile and Classic Ehlers-Danlos Syndrome.
Journal of Pediatrics 2010

Successful surgical treatment of atrial fibrillation, mitral regurgitation, and aortic root aneurysm in a patient with classical type Ehlers-Danlos syndrome.
Annals of Thoracic Surgery 2010

Tenascin-X Deficiency and Ehlers-Danlos Syndrome: A case report and review of the literature.
British Journal of Dermatology 2010

Multiple Triggering in a Girl With Ehlers-Danlos Syndrome: Case Report.
Journal of Hand Surgery - American 2010

Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers Danlos Syndrome.
Cardiovascular Research 2010

Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.
British Journal of Dermatology 2010
 

Allyson

Senior Member
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1,684
Location
Australia, Melbourne
Ritelli et al
University of Brescia

In text emphasis - bolding - is mine .... sorry no date for this abstract but there is an email address

thanks Janet Kopacz for sending


Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, Zoppi N, Vascellaro A, Wischmeijer A, Manfredini E, Garavelli L, Calzavara-Pinton P, Colombi M.

Source
Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123 Brescia, Italy. colombi@med.unibs.it.


Abstract
... BACKGROUND:
Classic Ehlers-Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility. A recent study demonstrated that more than 90% of patients who satisfy all of these major criteria harbor a type V collagen (COLLV) defect.

METHODS:
This cohort included 40 patients with cEDS who were clinically diagnosed according to the Villefranche nosology. The flowchart that was adopted for mutation detection consisted of sequencing the COL5A1 gene and, if no mutation was detected, COL5A2 analysis. In the negative patients the presence of large genomic rearrangements in COL5A1 was investigated using MLPA, and positive results were confirmed via SNP-array analysis.

RESULTS:
We report the clinical and molecular characterization of 40 patients from 28 families, consisting of 14 pediatric patients and 26 adults. A family history of cEDS was present in 9 patients. The majority of the patients fulfilled all the major diagnostic criteria for cEDS; atrophic scars were absent in 2 females, skin hyperextensibility was not detected in a male and joint hypermobility was negative in 8 patients (20% of the entire cohort).



Wide inter- and intra-familial phenotypic heterogeneity was observed. We identified causal mutations with a detection rate of approximately 93%. In 25/28 probands, COL5A1 or COL5A2 mutations were detected. Twenty-one mutations were in the COL5A1 gene, 18 of which were novel (2 recurrent). Of these, 16 mutations led to nonsense-mediated mRNA decay (NMD) and to COLLV haploinsufficiency and 5 mutations were structural. Two novel COL5A2 splice mutations were detected in patients with the most severe phenotypes. The known p. (Arg312Cys) mutation in the COL1A1 gene was identified in one patient with vascular-like cEDS.


CONCLUSIONS:
Our findings highlight that the three major criteria for cEDS are useful and sufficient for cEDS clinical diagnosis in the large majority of the patients. The borderline patients for whom these criteria fail can be diagnosed when minor signs of connective tissue diseases and family history are present and when genetic testing reveals a defect in COLLV. Our data also confirm that COL5A1 and COL5A2 are the major, if not the only, genes involved in cEDS.
 
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10,157
Allyson -- do you know what confirmation bias is. Confirmation bias is a tendency of people to favor information that confirms their beliefs or hypotheses. So no matter what people say on this thread, it seems you will go out and find that one bit of evidence that you believe supports your position. Unfortunately, most of this evidence does nothing to confirm that ME and EDS are in any way diagnostically related. I am just assuming that your post was an answer to my previous post.

The majority of the patients fulfilled all the major diagnostic criteria for cEDS; atrophic scars were absent in 2 females, skin hyperextensibility was not detected in a male and joint hypermobility was negative in 8 patients (20% of the entire cohort).

This does not change the fact that EDS and ME do not share any major diagnostic criteria to even suggest they are related. Did these patients that didn't meet all the major criteria for EDS meet the diagnostic criteria for ME or were they simply difficult to diagnose patients? The authors state that difficult to diagnose patients with borderline symptoms can be genetically tested for EDS to confirm their diagnosis or to confirm a diagnosis of a connective tissue disorder. ME is clearly not a connective tissue disorder.
CONCLUSIONS:
Our findings highlight that the three major criteria for cEDS are useful and sufficient for cEDS clinical diagnosis in the large majority of the patients. The borderline patients for whom these criteria fail can be diagnosed when minor signs of connective tissue diseases and family history are present and when genetic testing reveals a defect in COLLV. Our data also confirm that COL5A1 and COL5A2 are the major, if not the only, genes involved in cEDS.

This supports that EDS is a connective disorder with a genetic basis. As of yet, ME has no distinct genetic markers. What this study does not conclude is that EDS is related to ME. Minor signs of connective tissue disease, family history, and involvement of a specific gene are not in the diagnostic criteria for ME.

The authors state in their conclusion:

In the absence of family history, patients without clear skin involvement and joint hypermobility are not easily diagnosed by physicians and can even escape clinical observation; therefore, the disorder is most likely under-recognized and is certainly underestimated. For all of the borderline patients, a reliable genetic test can rapidly make a diagnosis or suggest a diagnosis of hEDS or other connective tissue disorders.

and

In conclusion, this study indicates that the accurate clinical evaluation of the patients and their relatives reduces the number of doubtful diagnoses. Using the flowchart here adopted, the patients without a clear suspect of cEDS can be ascertained, and diagnoses can be confirmed by genetic testing, allowing for the identification of the majority of the molecular defects.

The important comment would be that a genetic test can assist with the diagnosis of cEDS or hEDS or other connective tissues disorders. It also states that the diagnosis of cEDS can be confirmed with genetic testing. This study again exemplifies the fact that EDS and ME are distinct disorders with distinct diagnostic criteria. IF you read through the description of the subjects in this study, it is apparent that their signs and symptoms are quite distinct from ME. Yes, there are some overlapping symptoms but that is true for many disorders. It does show that EDS can at times be difficult to diagnose and that genetic testing will confirm a diagnosis for those with borderline symptoms.

I think a more appropriate topic for this thread might have been discussing how some of the symptoms of ME and EDS overlap and the similarities and differences between the two. Rather than a discussion about how they are one and the same because they clearly are not. I am glad I read this thread because now I know something about a disorder that I previously knew very little about.
 

Allyson

Senior Member
Messages
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Location
Australia, Melbourne
Thanks to Janet Kopacz for this article - she comments
This is an older article but found it interesting. I hae asked her for a date.
Bold in text is my emphasis - ? unknown type of EDS.

Obstetric and gynecologic dysfunction in the Ehlers-Danlos syndrome.
Sorokin Y, Johnson MP, Rogowski N, Richardson DA, Evans MI.

Source
... Department of Obstetrics and Gynecology, Wayne State University/Hutzel Hospital, Detroit, MI 48201.


Abstract
Women members of the newly formed Ehlers-Danlos National Foundation (EDNF) were surveyed with a very detailed questionnaire with 50 questions concerning family history and inheritance, past medical history, and obstetric and gynecologic problems. They entailed the largest extant database on Ehlers-Danlos Syndrome (EDS) patients. The mean age of the 68 women who responded to the survey was 42 years; most had EDS types I, III, IV and unknown. Forty-three women had 138 pregnancies; 13 women never married. The stillbirth rate was 3.15% (3/95); the preterm delivery rate was 23.1% (22/95), and the spontaneous abortion rate was 28.9% (40/138). There was a cesarean delivery rate of 8.4%, with 14.7% having perinatal bleeding problems. One woman (EDS type IV) had congestive heart failure. Common gynecologic problems were recurrent anovulation (41.3%), recurrent vaginal infections (53%), abnormal cytologic smears (19%), sexual dysfunction (61%), irregular menses (28%), endometriosis (15.8%), vaginal dryness (25%) and a need for hysterectomy (19.1%). In this largest series of pregnancies with EDS, we found relatively high rates of abortion, preterm delivery, pregnancy-related bleeding and stillbirth. Women with EDS also seem to have high frequency of anovulation, vaginal infections, abnormal cytologic smears and dyspareunia.
 

dannybex

Senior Member
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Allyson
I think a more appropriate topic for this thread might have been discussing how some of the symptoms of ME and EDS overlap and the similarities and differences between the two. Rather than a discussion about how they are one and the same because they clearly are not. I am glad I read this thread because now I know something about a disorder that I previously knew very little about.

Agree completely. Perhaps a new thread, with a new thread title...? But then again... :)
 

Allyson

Senior Member
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Location
Australia, Melbourne
Shell


here is the article on occular matters and EDS - this one doesNOt mention cateracts sorry - cannot recall if there was nother that did now but iwll keep searchig for you..

The impairment of lysyl oxidase in keratoconus and in keratoconus-associated disorders.

Dudakova L, Jirsova K.
...
Source

Laboratory of the Biology and Pathology of the Eye, First Faculty of Medicine, Institute of Inherited Metabolic Disorders, Charles University and General University Hospital, Prague, Czech Republic.

Abstract

Keratoconus (KC) is an eye disease characterized by the progressive thinning and protrusion of the cornea, which results in the loss of visual acuity.

This disorder remains poorly understood, although recent studies indicate the involvement of genetic and environmental factors. Recently, we have found that the distribution of the cross-linking enzyme lysyl oxidase (LOX) is markedly decreased in about 63 % of keratoconic specimens.

Similarly, LOX activity is significantly reduced by 38 % compared to control tissue. Nearly 70 systemic disorders have been reported in association with KC, most of them affecting the extracellular matrix. In this review we attempted to ascertain whether any KC-associated diseases exhibit signs that may reflect LOX impairment.

We hypothesized that very similar changes in the extracellular matrix, particularly at the level of collagen metabolism, including LOX impairment in mitral leaflets, may reflect an association between KC and mitral valve prolapse.

Moreover, this putative association is supported by the high frequency of Down syndrome in both diseases.

Among other disorders that have been found to coincide with KC, we did not find any in which the LOX enzyme may be directly or indirectly impaired.

On the other hand, in cases where KC is present along with other connective tissue disorders (Marfan syndrome, Ehlers-Danlos syndrome and others), KC may not arise as a localized manifestation, but rather may be induced as the result of a more complex connective tissue disorder.


best,

Ally
 
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10,157
I have Keratoconus. You can actually see the bulges on my cornea from it. I get a lot of ghost images. Driving at night is not an option. This started when I was in my mid-twenties. It escalated for about 10 years and then evened out. My vision is quite poor and Keratoconus rules out having laser surgery and our stinking government won't pay for cross-linking surgery and I can't afford 5,000 dollars per eye. My grandmother had keratoconus. My mother has keratoconus. My sister has keratoconus. None of the males in our family have which suggests in our family that is is related to XX chromosome. I am the only person in my family that is ill. My sister does triathlons and marathons. She is very healthy. My mother is a very healthy 77 year old woman. My grandmother lived to a very healthy 95 years old with a bit of age related dementia near the end.

It seems to be genetic disorder in my family's case as well as the fact that most of the females in our family are born without knuckles in their big toes. Keratoconus and the lack of knuckle issues doesn't seem to translate into ill-health or connective tissue disorders in our family.

I doubt keratoconus is related to ME. I doubt it is even related to EDS. I have spoken to quite a few people with the condition and none of them have mentioned any symptoms of EDS.They all are healthy. I have had genetic testing and there are no genetic defects related to any collegen defects. I think I am correctly assuming that my keratoconus is part of the genetics of a female nature in my family and it is not related to ME/CFS as all the females in my family with KC are extremely and annoyingly healthy.
 

ukxmrv

Senior Member
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London
Agree completely. Perhaps a new thread, with a new thread title...? But then again... :)

We are going around in circles. I suggested at the start that this thread should be renamed. These arguments were brought up at the start and I've seen no evidence that connects ME with EDS apart from the odd thing here and there and the (of course valuable) experience of individual patients.

The title is misleading so people may be reading this because they think that there is evidence here. It is interesting though but a lot of the stuff on POTs I've already seen and it's been lost in the sheer volume.

The general EDS stuff if going to be of interest maybe to those with the condition if they haven't already seen it but that's niche.

I'm at a loss to see how a doctor could misdiagnose a person with pure EDS as CFS or ME but given the poor level of testing I've seen in the UK it doesn't come as a surprise.
 

dannybex

Senior Member
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Seattle
I agree ukxmrv. I also agree with Kina, that some folks with CFS/ME may indeed develop SOME symptoms or signs of EDS, perhaps not the hyper mobility stuff, but rather collagen related issues. But that can happen with any long-term chronic disease or illness.
 

Sushi

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We are going around in circles. I suggested at the start that this thread should be renamed. These arguments were brought up at the start and I've seen no evidence that connects ME with EDS apart from the odd thing here and there and the (of course valuable) experience of individual patients.

The title is misleading so people may be reading this because they think that there is evidence here. It is interesting though but a lot of the stuff on POTs I've already seen and it's been lost in the sheer volume.

Yes, several of us asked Allyson to rename the thread when it was first started and Allyson said that would be fine, but it didn't happen. That could have saved us all this circular posting.

Sushi
 

merylg

Senior Member
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841
Location
Sydney, NSW, Australia
I have Keratoconus........
I doubt keratoconus is related to ME. I doubt it is even related to EDS. I have spoken to quite a few people with the condition and none of them have mentioned any symptoms of EDS.They all are healthy. I have had genetic testing and there are no genetic defects related to any collagen defects. I think I am correctly assuming that my keratoconus is part of the genetics of a female nature in my family and it is not related to ME/CFS as all the females in my family with KC are extremely and annoyingly healthy.


http://www.molvis.org/molvis/v13/a130/

Testing is available for the following genes involved in the TGFB/SMAD pathway:
TGFBR1
TGFBR2
SMAD3
TGFB2
These are associated with Loeys-Dietz Syndrome, a connective tissue disorder, somewhat recently characterised. A study is soon to be published relating to allergy & immune issues in the earlier found types of LDS.

Disruption of the TGFB/SMAD pathway is associated with cancer.

http://ghr.nlm.nih.gov/gene/TGFB2

http://omim.org/entry/614816

I'm planning to start by testing SMAD3, as that seems relevant to my own issues. Testing is sooo expensive, but costs are coming down all the time.

I see a definite connection here with immune problems, and have no problem with this thread, even if the title is provocative.


 

Allyson

Senior Member
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Location
Australia, Melbourne
http://www.molvis.org/molvis/v13/a130/

Testing is available for the following genes involved in the TGFB/SMAD pathway:
TGFBR1
TGFBR2
SMAD3
TGFB2


These are associated with Loeys-Dietz Syndrome, a connective tissue disorder, somewhat recently characterised. A study is soon to be published relating to allergy & immune issues in the earlier found types of LDS.

Disruption of the TGFB/SMAD pathway is associated with cancer.

http://ghr.nlm.nih.gov/gene/TGFB2

http://omim.org/entry/614816

I'm planning to start by testing SMAD3, as that seems relevant to my own issues. Testing is sooo expensive, but costs are coming down all the time.

I see a definite connection here with immune problems, and have no problem with this thread, even if the title is provocative.


Thanks Merylg yes and we have nothing to lose by thinking about it; for my part i am about to start testing for Lyme - I will try anything really that does no harm and I do not think i have it but would liketo rule it out.

Yes i have heard of Loeys-Dietz - its name often crops up in connection with EDS so i believe there is some definite link - as there is with Marfans. (My grandfather had Marfan's habitus ( I realise only now)- a build like Ted Danson - tall long libs hard to put on weight.)


As for genetic testing though it is not really there yet for most types of EDS I am told.
The gentics clinic at Royal Melbourne Hospital - one of Australia's best and it is a department of Melbourne University in effect - did not even test me though they thought my symptoms matched - they said they would need to test for severl hundred genes - 300 - 400 i think - at the moment; if each text is several hundred dollars it would hardly be worth it (they did not say the cost was the issue though - that is my guess). But as you say costs are plummetting quickly.

But he said definitely watch this space and come back in 2 years as things are happening so quickly.

I think the Human Genome Project will feed into it and as more people narrow down there symptoms and start looking to be diagnosed with the help of the internet and present to doctors - especially research geneticists - ie those associated with Universities and research - the more interst will be garnered.


And hopefully research will accelarate..

Best of luck with your testing though ... would love to hear updates thanks.

cheers

Ally
 

GcMAF Australia

Senior Member
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1,027
Thanks Merylg yes and we have nothing to lose by thinking about it; for my part i am about to start testing for Lyme - I will try anything really that does no harm and I do not think i have it but would liketo rule it out.

Yes i have heard of Loeys-Dietz - its name often crops up in connection with EDS so i believe there is some definite link - as there is with Marfans. (My grandfather had Marfan's habitus ( I realise only now)- a build like Ted Danson - tall long libs hard to put on weight.)


As for genetic testing though it is not really there yet for most types of EDS I am told.
The gentics clinic at Royal Melbourne Hospital - one of Australia's best and it is a department of Melbourne University in effect - did not even test me though they thought my symptoms matched - they said they would need to test for severl hundred genes - 300 - 400 i think - at the moment; if each text is several hundred dollars it would hardly be worth it (they did not say the cost was the issue though - that is my guess). But as you say costs are plummetting quickly.

But he said definitely watch this space and come back in 2 years as things are happening so quickly.

I think the Human Genome Project will feed into it and as more people narrow down there symptoms and start looking to be diagnosed with the help of the internet and present to doctors - especially research geneticists - ie those associated with Universities and research - the more interst will be garnered.


And hopefully research will accelarate..

Best of luck with your testing though ... would love to hear updates thanks.

cheers

Ally
Considering that several people who previously had been diagnosed with Sarcoidosis now have been diagnosed with Lyme Disease and at least 24% of Autism cases had antibodies to Lyme -->
Then it is quite feasable that other diseases have a Lyme association.

Many people seem to be misdiagnosed with MS etc etc
and Quote Allyson
Doctors and patients rarely make the connection that many different complaints are coming from one problem.
I Hope that this helps!!
 

Allyson

Senior Member
Messages
1,684
Location
Australia, Melbourne
Considering that several people who previously had been diagnosed with Sarcoidosis now have been diagnosed with Lyme Disease and at least 24% of Autism cases had antibodies to Lyme -->

Then it is quite feasable that other diseases have a Lyme association.

Many people seem to be misdiagnosed with MS etc etc


and Quote Allyson

Doctors and patients rarely make the connection that many different complaints are coming from one problem.
I Hope that this helps!!


HI GcMaf,

thanks indeed that is useful.

More incentive for me to chase up the testing quickly.

I will book for the Aussie tests tomorrow then follow up with the overseas ones if that is negative.

And potentially tratable is a plus.

Yes I agree there is still so much to sort out with all these illnesses.

Thanks again for the helpful input.


Ally
 

Shell

Senior Member
Messages
477
Location
England
Allyson Thanks I'll have a read of that.
With my 10 year old I have had two main ideas about where his cataract came from; first is my use of codeine for pain when I was pregnant. It was during my preg with him that I became ill. The pain was off the wall.Despite docs insisting that my baby wouldn't be effected he had terrible codeine withdrawal not long after birth. And the other idea I had was Coxsackie B because that was the virus from the big Scottish cluster and I discovered a paper saying Coxsackie can cause fetal cataracts.
One thing against that is I am pretty sure R's cat started a little after his was born.
on EDS - he does have very translucent skin, and as I've said I have two girls who can lick their noses with glee (especially my most unladylike 6 year old).

My other query about ME is the automimmune one as my oldest son has type 1. but that's for another time and another thread I think.
 

GcMAF Australia

Senior Member
Messages
1,027
HI GcMaf,

thanks indeed that is useful.

More incentive for me to chase up the testing quickly.

I will book for the Aussie tests tomorrow then follow up with the overseas ones if that is negative.

And potentially tratable is a plus.

Yes I agree there is still so much to sort out with all these illnesses.

Thanks again for the helpful input.


Ally
There is a victorian Facebook site for Lyme people
There are about 6-7 children in Victoria that have Lyme and "autism"
1 is improving with treatment