Do you have scoliosis, double jointed, MVPS?Odd overlap- Connective Tissue Disorders?

[me2]

I was reading a journal article on HDCT's and noticed an amazing similarity in symptoms. There are at least 3 generations of CFS sufferers in my family. I am listing the symptoms that are in most if not all 3 generations and the connective tissue disorder involved in the hope that some of you may see your own symptoms listed. Possibly, there is a subset of CFS that involves connective tissue? Here is the article URL: http://jama.ama-assn.org/cgi/reprint/262/4/523.pdf


Is CFS related to a connective tissue disorder? Below are symptoms observed in three generations of my family.

SIP(Sticklers) Extreme to moderate myopia
Floaters in eyes
Hypermobile joints
Scoliosis
Small jaw
Chronic Pain, especially in the joint area
Osteogenesis Imperfecta
Short stature
Loose joints, ligament laxity
Easy bruising
Frequent nosebleeds
Breathing problems, asthma, sleep apnea
Curvature of the spine
Frequent elbow dislocations
The sclera may be tinted blue, purple, or gray.
Fatigue
Vitamin D deficiency
Severe Osteoporosis
Mitral Valve Prolapse

Mucopolysaccharidoses (mild types)
Sleep apnea
Chronic Pain
Recurring respiratory infections
Sinus congestion and Runny nose
Short stature
Hernias
Affected Gait
Pelvic tilting
Hip dislocation
Clumsiness
Tremors
Muscle spasms

EDS Symptoms:
Lax joints
Connective tissue fragility
Joint hypermobility
Joint dislocation
Elasticity of skin
Soft skin
Dysmorphic hairline, such as widows peak
"Cigarette paper scars"
Intestinal fragility
Chronic pain
Muscle hypotonia
Mouth ulcers
POTS
Dizziness
Tendency to fall down easily and have poor body control

 

[BEG]

Hi me2,

Back in the dark ages we were tested for scoliosis. I didn't know I had it until a few years ago when my mother revealed that I have a slight case. I also have several of the symptoms you mentioned: lax joints, POTS, fall down easily, affected gait, floaters in the eyes, osteoporosis/osteopenia (at 59), and chronic joint pain, esp. in one hip which is so severe it will wake me up in the morning.

I confess I haven't read the article, but I am anxious to. Also, I've had a test which indicates some kind of tissue disorder. I'll try to hunt it up. I've always felt that the scoliosis might be a big part of my pain, one leg longer than the other, and actually one side of my body taller than the other.

 

[Athene]

Hi,
My younger sister has one of these illnesses. Her joint hypermobility is so extreme, as a kid she could roll up backwards and kiss her own backside! ...then roll her legs over her head and sit the soles of her feet on her own chest. She is much bendier than most circus contortionists I have seen. One of her legs is quite a lot shorter than the other one and she is also remarkably shorter than the rest of the family.
However she is one of the family members who does not have CFS. She now has constant, severe excruciating joint pain and she told me recently her whole spine is so painful that she sometimes thinks about killing herself. She sometimes takes courses of painkillers so strong that she says they send her off to cloud cuckoo land.

I think there is some kind of connective tissue damage/abnormality in CFS (maybe connected with elastene/eslatase???, which KDM reckons we make too much of) but I think these illnesses may be different from CFS, because my sis is a classic case, apparently - bendy when young, and the pain comes on later, in the thirties. The whole thing has its own progression through the lifetime that doesn't seem to match CFS, from what I've seen.

Knowing how it progresses, I was a bit horrified recently when my little boy (age 4) said "look Mummy" and was holding his fingers bent back the wrong way so they nearly touched the back of his hand. When he lifts up onto his elbows they also go the wrong way, like they are turned inside out. I am trying to stop him doing things that bend his joints out, because my sister's doc told her the more you bend when you are young, the more pain you get when older. When she was little we (I mean myself and our other older sis) used to really pressurise her to put on contortionist shows for us, even though she didn't want to, and now I feel guilty about it, even though we didn't know.

 

[richvank]

Hi, me2.

I think what you are describing is a type of Ehlers-Danlos syndrome, which is caused by genetic mutations in genes involved with making collagen. E-D syndrome has some symptoms that are similar to those of fibromyalgia, and is sometimes misdiagnosed as fibro. See the abstracts below. I don't know of effective treatment, unfortunately.

Best regards,

Rich


Rev Med Chil. 2009 Nov;137(11):1488-97. Epub 2010 Jan 13.
[Ehlers-Danlos syndrome, with special emphasis in the joint hypermobility syndrome]

[Article in Spanish]

Bravo JF.

Departamento de Reumatologa, Departamento de Medicina Occidente, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
Abstract

There is an urgent need to increase the awareness on the Joint Hyper mobility Syndrome QHS). This is a congenital and prevalent emergent condition that is frequently undiagnosed and that causes significant health problems. Besides recurrent muscular-skeletal problems and signs and symptoms derived from tissue fragility, adolescents and young adults may develop osteoporosis, early osteoarthritis or dysautonomia, that are common in the disease, and deteriorate quality of life. Many JHS patients have signs and symptoms suggestive of fibromyalgia and are usually misdiagnosed. Physicians should be able to differentiate the less severe form of JHS from the Vascular Ehlers-Danlos Syndrome, to diagnose it before the appearance of serious complications and even death. The study of these diseases is a promising area for genomic and rheumatologic research.

PMID: 20098810 [PubMed - in process]Free Article


J Clin Rheumatol. 2001 Oct;7(5):308-14.
Symptoms and functional health status of individuals with Ehlers-Danlos syndrome (EDS).

Berglund B, Nordstrm G.

Department of Nursing, Karolinska Institutet, Stockholm, Sweden. britta.berglund@omv.ki.se

Comment in:

* J Clin Rheumatol. 2001 Oct;7(5):286-7.

Abstract

Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder that can have a substantial impact on daily life. The aims of this study were to describe the symptoms reported in a group of individuals with EDS and to investigate the impact on functional health status by means of the Sickness Impact Profile (SIP). Seventy-seven individuals, members of the Swedish EDS Association, completed 2 mailed questionnaires. The most frequent symptoms were related to activity, e.g., joint problems (75%), to pain (71%), and to skin/tissue (52%). Pain was reported by 37 individuals (48%) as their most severe symptom. The SIP results showed an overall mean score of 13.0 (females 13.9, males 5.6), compared with a Swedish reference group with a SIP score 1.3. Women with EDS reported a better functional health status than females with rheumatoid arthritis (overall SIP score 13.9 versus 21.4). In comparison with women with fibromyalgia, the EDS females rated their functional health status as worse on the physical dimension (p <0.05) and the subscale home management (p <0.05), and as better on the subscale work (p <0.05). Impact of EDS on the individual's daily life needs to be acknowledged, assessed, and evaluated in healthcare.

PMID: 17039161 [PubMed]

 

[taniaaust1]

im with rich.. sounds like you are describing one of the Ehlers-Danlos syndrome types. EDS has many different types.

There IS a subgroup of CFS/ME who also do have Ehlers Danlos. I used to be part of a EDS and CFS/ME support group which was catering for this subgroup of CFS/ME. (I dont have EDS thou.. my daughter thou probably does.. she can bend elbows back in a very yucky looking way and also bend her thumb right backwards to touch her arm).

She now has constant, severe excruciating joint pain and she told me recently her whole spine is so painful that she sometimes thinks about killing herself. She sometimes takes courses of painkillers so strong that she says they send her off to cloud cuckoo land.

She needs to see someone who knows about EDS. Those with EDS often do get joint pain. They can be also prone to fractures and there can be also other issues too depending on what type of it you have.

 

[helsbells]

I have EDS type III plus a ton of other stuff, I regularly "discuss" with my consultant how it can be used to explain the immunological problems which have a life of their own. cascade he says but the day before i catch a cold/flu there is a discernible improvement in symptoms, in fact the only time there ever is - if the problems solely stem from an inherited weakness and are a fait accomplit, how come there is a potential for those few hours of improvement??

 

[richvank]

I have EDS type III plus a ton of other stuff, I regularly "discuss" with my consultant how it can be used to explain the immunological problems which have a life of their own. cascade he says but the day before i catch a cold/flu there is a discernible improvement in symptoms, in fact the only time there ever is - if the problems solely stem from an inherited weakness and are a fait accomplit, how come there is a potential for those few hours of improvement??

Hi, helsbells.

That does sound as though there is an immune component to your disorder, such as perhaps when the immune system gets distracted by having to deal with a cold or flu virus, it stops doing whatever it was doing that was causing the symptoms. I gather that's what you are thinking, too. If this is true, the question is what is the immune system responding to? Is there a pathogen present? Is there an autoimmune component to the disorder?

Have you had an HLA DR DQ typing panel run? I know that there are correlations between some of the autoimmune disorders (including rheumatoid arthritis and lupus erythmatosis) and the inherited HLA genotypes. I note that you are in the UK, and I don't know if this testing is available there. In the U.S., this panel is offered by LabCorp, and it is one of the panels recommended by Dr. Ritchie Shoemaker to look for susceptibilities to biotoxin illnesses, which are also correlated with HLA genotypes.

Best regards,

Rich

 

[helsbells]

Thank you very much for posting this Rich - haven't really heard about the HLA etc before, one of my other problems IC very much an allergic/autoimmune problem or I will eat my hat. i accept there were in hindsight some manifestations of EDS III when younger but I would have got by. Then I began to follow a pattern of severe infections - often work-a-day things such as tonsillitis, colds but I always got worst case scenario, eventually it got weirder full blown cold sore virus at 30 - my Dr was perplexed as I was supposed to either have developed immunity at that stage or already got cold sores which I didn't get, similarly Rubella when I was supposed to have had that also - i then became and remain very sick and colds, infections became a rarity with this occasional sojourn bring a real sleep the night before and small but discernible improvement in POTS and allergies and even Brain fog if I'm Lucky. Sadly it it is very short lived. i will do some reading on this in the next day or two. thanks again for taking the trouble.
Helen

 

[forgottenstar]

I dont know about the short stature part (as I am the tallest female in my family, and I also have the widest hips and have not been pregnant) but I am the only one that is "double jointed" so to say. My fingers/elbows turn into positions that no one should be able to do. This also had a huge part in the ability for my knee to heal properly after a severe accident- it took a lot longer than it should have. I fracture easily- to date, I have broken both my wrists, my nose, my ankle, my finger and when I had the knee accident I tore all the muscles/ligaments and my femur and tibia cracked together breaking at the tips. With the exception of my knee (and my nose, basically a headbutt to the face) the rest of my fractures were for stupid things that should not have broken anything.

I also have problems with my jaw, as in, it dislocates at will. Im waiting for them to tell me I need surgery on that too...

 

[helsbells]

I dont know about the short stature part (as I am the tallest female in my family, and I also have the widest hips and have not been pregnant) but I am the only one that is "double jointed" so to say. My fingers/elbows turn into positions that no one should be able to do. This also had a huge part in the ability for my knee to heal properly after a severe accident- it took a lot longer than it should have. I fracture easily- to date, I have broken both my wrists, my nose, my ankle, my finger and when I had the knee accident I tore all the muscles/ligaments and my femur and tibia cracked together breaking at the tips. With the exception of my knee (and my nose, basically a headbutt to the face) the rest of my fractures were for stupid things that should not have broken anything.

I also have problems with my jaw, as in, it dislocates at will. Im waiting for them to tell me I need surgery on that too...

I am the tallest with the widest hips. as well as EDS it is worth googling Marfans. i just had a bone scan as they say there is more susceptibility to brittle bones, mine are a little worse than they should be for my age but could be worse

 

[forgottenstar]

I am the tallest with the widest hips. as well as EDS it is worth googling Marfans. i just had a bone scan as they say there is more susceptibility to brittle bones, mine are a little worse than they should be for my age but could be worse

Yeah...Im 24...most of those fractures were between the ages of 10 and 14. My doctors always said to "drink more milk" but none of them actually told me that I had any kind of vitamin deficiency. I consistantly "sprain" things in the dumbest ways.

Edit:: After reading about Marfan's that seems likely. Growing up, my grandmother always called me piano fingers cuz of how long and thin they were. I had lasik a little over a year ago for being near sighted with an astigmatism in both eyes.. among other things that are listed. (GERD, Stretch Marks, cysts, just had surgery to fix my deviated septum, etc etc)

Thanks for the info.

 

[me2]

Very Interesting Discussion

Thank you to everyone who has responded.

taniaaust1, you indicated there is a subset of CFS patients that have EDS. Could you tell us a little more about that and where one can find information about it?

As several of you mentioned, I also thought my family's symptoms did sound a lot like EDS (esp. type III). However, I got the impression from several of the things I've read about it that researchers are identifying new types of EDS all the time. If there is a subset of CFS that has EDS, couldn't one couch it the other way, too -- that there is a subset of EDS that has CFS? I just think it would open up dialog free of the politics. OK, nothing is free of politics, but possibly it would be less intense.

Just makes me curious that so many of us have family members or we, ourselves, have the loose joints. My daughter can turn her feet completely around backwards, has dysautonomia and has a severe case of "intoeing." She also has CFS. My youngest daughter is an accomplished gymnast and it dawned on me when reading all of the responses to this thread that she might possibly be affected, too. She is incredibly flexible.

Has anyone looked for a common gene problem/mutation in CFS? I can't reconcile the skeletal abnormalities with the Alter and WPI findings, but I am convinced that they are correct. Could the virus affect the fetus in utero leading to skeletal and even collagen anomalies? Or could the mother's altered DNA (from virus integration) be passed along to the child? I definitely don't know as much as most of you regarding how the XMRV and related viruses infect and harm us, but could they also cause things like scoliosis?

I really appreciate all your comments.

 

[helsbells]

It isn't flexibility it is low tone, too much elastin i think and not enough collagen. That said it doesn't mean she will become symptomatic, Im sure above average quotients of ballerinas and gymnasts have joint hypermobility. EDS seems to affect more females, and is often inherited from the mother but not exclusively. It only requires one parent to have and has 50% pass on rate. I think there is also a link with Aspergers pos autism. I think I have MLV/XMRV or whatever it turns out to be, I think I inherited a genetic susceptibilty in EDS

 

[Victoria]

Me2, don't forgot that there are many people with these symptoms, some of which belong to other diseases or certain people from certain backgrounds. I think one needs to be careful not to assume these symptoms are more prevalent in ME/CFS sufferers without some sort of survey & accurate statistics.

Nearly everyone has one side of their body different to the other - so I would consider this a normal physical feature, not abnormal. Many people have a scoliosis (me included).

I have many of the symptoms you mentioned as have some of my family. I have severe myopia (since the age of 7) for example.

I was also found to be Vitamin D deficient. But since I am very fair & get sunburnt in a matter of 10 minutes, I avoid any exposure to our extreme UV rays in the hot Australian summer, so it's not surprising I was vitamin D deficient. We also have a lot of skin cancer in Australia, the highest per capita in the world today. Members of my own family have skin cancer. I don't allow any part of my body to be exposed to the sun (if I can help it), therefore I have created my own vitamin D deficiency (so to speak).

One would need to know the percentages of healthy people who have these symptoms, as opposed to the percentages of ME/CFS who have these symptoms. Race, country, upbringing, diet, sex, age - well, I guess I'm saying there are many factors which may influence symptoms & predisposition to certain symptoms.

I used to think I was naturally clumsy & had many falls, but now I know that I wasn't getting enough restful sleep & was overtired all the time, so my concentration was poor & I probably wasn't picking my feet up, or watching where I was going. I also think I had a lot of falls because I used to walk everywhere after I sold me car, & there was the potential to have falls.

People who drive their cars everywhere, are less likely to have falls than people who walk everywhere (like I did/do).

Soft skin - well, I am fair. But I also have had a very healthy diet for many years. I eat foods & take supplements (which are good for healthy skin & keep aging at bay). I consume alot of fish oils. I keep out of the sun (which is very aging & dehydrating). So I guess you could say, I go out of my way, to live a life which promotes soft skin. Also, if you are chronicallly ill, it is unlikely that you would live an outdoor life or fast paced stressful life which would be detrimental to your skin.

If you are chronically ill, your whole body sytems would be more likely to be disfunctional (including your digestive system). So you probably wouldn't absorb the best nutrition from the diet you DO have.

I guess it's like the chicken & egg story - which came first, the chicken or the egg?

Does one become deficient in many vitamins & minerals because one is chronically ill & one's digestive system doesn't work.

OR,

Because you may have had an UNhealthy lifestyle, did your immune systems break down, & your weakened state leaves you OPEN to viral attack.

OR,

Do you have a genetic predisposition (or faulty genes) in your family (which has resulted in your body system breakdown).

I'm not doubting or questioning your theory - I'm just suggesting that one needs to be careful when finding similarities, that one doesn't ignore the differences.

 

[Athene]

Rich, or anyone, do you know if there is anything that a doctor could do to help my sister other than give her painkillers?

She wrote me this in an email recently:
I feel a lot of the time as if I've been dropped off the top of a tower block, or beaten with a couple of sacks of spanners, everything hurts everywhere. I really feel as though I shouldn't be depressed by how hard it is going up a flight of stairs when I haven't even reached 40 yet. You remember I had that really strange phase where I kept on spacing out and wandering into the road? And felt as though I was just about to drop dead several times and couldn't go up stairs without having to sit down at the top?
Today I am on co-drydamol, diclofenac, and diazepam for my back and neck as it just got to be too much.

If this is a genetic thing I guess not, but she really is putting up with a lot.

 

[coxy]

This is really interesting to me as our youngest child (6yrs) who we have been worried about lately, showing a few ME/CFS symptoms, has just been diagnosed with dypraxia and hypermobility syndrome. He is seeing a child psycologist on thurs to get a full assessment done. Our paeditrician told me to go away and read up as much as possible about both problems and come back and see him after the phycologist has confirmed his diagnosis.
The doctor also said that chronic fatigue goes hand in hand with dyspraxia, dypraxia seems to often go hand in hand with hypermobility.
I emailed judy whittemore and asked her if they could be linked to me/cfs/xmrv and guess what she said yes! I've emailed her again to see if she can give me a bit more info so i can relay it back to my sons doctor.

 

[richvank]

Rich, or anyone, do you know if there is anything that a doctor could do to help my sister other than give her painkillers?

She wrote me this in an email recently:
I feel a lot of the time as if I've been dropped off the top of a tower block, or beaten with a couple of sacks of spanners, everything hurts everywhere. I really feel as though I shouldn't be depressed by how hard it is going up a flight of stairs when I haven't even reached 40 yet. You remember I had that really strange phase where I kept on spacing out and wandering into the road? And felt as though I was just about to drop dead several times and couldn't go up stairs without having to sit down at the top?
Today I am on co-drydamol, diclofenac, and diazepam for my back and neck as it just got to be too much.

If this is a genetic thing I guess not, but she really is putting up with a lot.

Hi, Athene.

I'm very sorry about your sister's situation.

If she happens to have type VI Ehler's Danlos, taking up to 4 grams per day of vitamin C might help, because vitamin C is the cofactor for the enzyme that is deficient in that type. This is according to the Cecil Textbook of Medicine. This text also mentions that if the person can do physical therapy to strengthen the muscles, that might help to compensate for the weak ligaments.

Beyond those things, maybe taking gelatin would be of some help. The brand available here, Knox gelatin, is made from pig skins, and thus should have the right amino acids for making collagen.

In the future, maybe stem cell therapy using umbilical or placental stem cells would be a possibility, the idea being that the new cells wouldn't have the genetic mutation. I haven't heard of this being tried, but these type of stem cells have been used to treat a variety of disorders so far.

Best regards,

Rich

 

[Athene]

Thank you for this advice, Rich. I am going to forward this to my sis right away.

 

[BRCforME.org]

I was diagnosed with scoliosis age 8. I wore a back brace from age 9 to 16.

 

[helsbells]

This is really interesting to me as our youngest child (6yrs) who we have been worried about lately, showing a few ME/CFS symptoms, has just been diagnosed with dypraxia and hypermobility syndrome. He is seeing a child psycologist on thurs to get a full assessment done. Our paeditrician told me to go away and read up as much as possible about both problems and come back and see him after the phycologist has confirmed his diagnosis.
The doctor also said that chronic fatigue goes hand in hand with dyspraxia, dypraxia seems to often go hand in hand with hypermobility.
I emailed judy whittemore and asked her if they could be linked to me/cfs/xmrv and guess what she said yes! I've emailed her again to see if she can give me a bit more info so i can relay it back to my sons doctor.

Hi coxy - there are actually a couple of good NHS EDS drs in UK although not specifically connecting it to CFS/ME -they have linked it to panic disorder and POTS bear that in mind if you need back up.