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Could this be scleroderma?


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#1 Bex

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Posted 03 March 2013 - 01:16 PM

Hi everyone

This is my first time posting in these forums. Hopefully some of you might be able to help...

I've had a few medical issues for the last six or seven years or so (I'm now 28). As a result, I was diagnosed a couple of years ago with something known as POTS, which was attributed to a connective tissue disorder (Ehlers-Danlos hypermobility type). However, not all doctors agree that I have EDS, and some of my symptoms aren't fully explained by this diagnosis.

I've come across scleroderma in the past, but I don't have some of the symptoms that I think are quite typical of this disease. This is where I wondered if you might be able to help.

I have a few symptoms that are quite embarrassing, but I believe they can be quite common in scleroderma - bladder incontinence as well as bowel incontinence. The bowel problem is due to a weak sphincter. I also have oesophageal dysmotility and a weak lower oesophageal sphincter too. I recently had an echo, where they found I had mildly raised pulmonary arterial pressure, but not high enough to be classed as pulmonary hypertension. The weak sphincters and raised pulmonary artery pressure made me think of scleroderma. However, I don't have any skin symptoms, and I'm pretty sure I don't have Raynaud's. I do have telangiectasia though. I've heard of scleroderma sine scleroderma - I.e. organ involvement without the skin involvement, and wondered if that could be it - although I do know it's incredibly rare. Do any of you have any thoughts on this?

Thanks in advance

Bex

#2 Joelf

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Posted 03 March 2013 - 02:53 PM

Hi Bex,

 

Welcome to these forums!

 

I'm sorry to hear that you have been diagnosed with POTS (Postural orthostatic tachycardia syndrome) and possibly EDS (Ehlers-Danlos syndrome) and are experiencing worrying symptoms. I've included a link to our medical pages on Gastro and Bowel involvement to give you some more information.

 

One of the more challenging aspects of Scleroderma is that it is a very difficult disease to diagnose as it does seem to affect everyone differently and the symptoms can be so variable. Although one of my pleasures in life is telling my doctor how to do her job, I actually have no medical training, so I would advise that you go back to your general practitioner and ask for a referral to a Scleroderma specialist as we do recommend that our members consult, if possible, a Scleroderma expert to deal with this complex disease.

 

Kind regards,

 

 


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#3 Shelley Ensz

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Posted 03 March 2013 - 07:57 PM

Hi Bex,

 

Welcome to Sclero Forums!  I'm sorry you are ill and send my best wishes to you.

 

I may be wrong (I often am!) but I think scleroderma and Ehlers-Danlos are almost polar opposites of the connective tissue diseases. The most classic symptom of Ehlers-Danlos is very stretchy skin, to the point that some joints can even be hyper-mobile.  Scleroderma can cause the exact opposite, with skin so firm that joint contractures can occur.

 

And now, a word about doctors.  You say that "not all doctors agree that I have Ehlers-Danlos".  Well, I cannot even begin to tell you how often I have heard from scleroderma patients, enormously upset because they were diagnosed by a scleroderma expert but then they went to another doctor, who was not a listed scleroderma expert, who merrily proclaimed that they did not have scleroderma!

 

Does this mean that they or their symptoms have suddenly changed?  No.  Does this mean that the new doctor doesn't know what the blank they are talking about?  Yes!  I have even heard of people diagnosed with scleroderma for over 20 years who went to a new doctor, who undiagnosed them on their very first visit.

 

Why does this happen?  I have a theory that it happens because the non-experts simply do not know certain rare diseases, even when they are staring them in the face.  Even when people have all the symptoms.  Even when people have compatible blood work or biopsies.  Sometimes it might be because they only remember the most drastic presentations of the disease, as seen on a slide show during medical school.  No hand contractures, well then, NO SCLERODERMA, right?  (Wrong!) Person cannot wrap both legs around their neck?  Obviously not Ehlers-Danlos, then!  (Wrong!)

 

So back up a minute here.  Were you diagnosed with Ehlers-Danlos by some sort of quack, a middle-of-the-road doctor, or by some sort of expert?  These other doctors, who don't agree, are they some sort of quacks, middle-of-the-road professionals, or are they in fact experts in Ehlers-Danlos?

 

Try to weigh the expertise of the various doctors, specifically in regard to Ehlers-Danlos, against those who think you have something else.  WHAT else do they think you have?  It would be odd if they think scleroderma, simply because of the polar-opposite of skin presentation.  But if one or more of them appear to know their stuff about Ehlers-Danlos but they still suspect you have scleroderma, then you would really need to see a scleroderma expert for a tie-breaker.

 

Otherwise, you need to stay far away from any doctors who are not respecting your diagnosis by an expert in Ehlers-Danlos.  I can pretty much guarantee that if you see enough doctors, especially enough who don't know the first thing about the illness you have, you will automatically encounter some (perhaps even many) who do not agree with the diagnosis.  Not because you don't have it, but because they are too dense or stubborn or naive or close-minded or simply uneducated enough to see it when it is sitting right in front of them.

 

So, let's dish!  What's the scoop on the assortment of opinions?

 

:emoticons-group-hug:


Warm Hugs,

Shelley Ensz
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#4 Amanda Thorpe

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Posted 04 March 2013 - 04:43 AM

Hello Bex,

 

Welcome to the forums! I would like to add my suspicion to Shelley's summary, which explain this problem beautifully! Some doctors, the ones with egos that suck the air out of the room, are unable to accept a diagnosis made by an "expert" because the only place they're considered experts is their own living room, so they proceed to undo the diagnosis and make one of their own.

 

Maybe the answer to this issue, encountered by many, is, "Yes I am, as determined by an expert which you ain't and I am not accepting a diagnostic change by anyone other than an expert." Okay, maybe don't use the word ain't?

 

I had never heard of Ehlers-Danlos so googled a bit about the disease and it's no picnic, a bit like scleroderma, so you don't want both for sure. As I understand it scleroderma itself does not bother the bladder but scleroderma can be associated with interstitial cystitis, which I have in conjunction with scleroderma. In fact autoimmune diseases can actually make you susceptible to interstitial cystitis.

 

I'm afraid it may well be back to the doctors to solve this one but make sure it's a scleroderma expert. 

 

Take care.


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#5 judyt

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Posted 04 March 2013 - 02:48 PM

Hi Bex,

 

While we are on the subject of weird and wonderful diagnoses, I thought I might add my experience to the list.   I started on my journey with Sclero almost 50 years ago now and maybe even longer if my childhood memories are correct.   I was finally diagnosed correctly in 2003 when I was an emergency admission with a Haemetemisis (vomiting blood).

 

I knew from at least my early 20's that something was very wrong but as Shelley so neatly phrased it the doctors I saw wouldn't know Scleroderma if they were looking at it - no hand contractures therefore no sclero.   I had very obvious severe Raynauds, Telangiectasia,  minor Calcinosis, and some Esophageal and large bowel problems but no visible skin involvement.

 

I could go on but you probably get the picture.

 

If you haven't already, you need to get yourself to an appropriate expert.

 

Best of luck and best wishes on your journey.

Judyt



#6 Bex

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Posted 06 March 2013 - 12:20 PM

Thank you all for your very caring and helpful replies.

Shelley, I was 'diagnosed' with EDS type III (hypermobility type) by a neurologist specialising in disorders of the autonomic nervous system (in my case, POTS). He thought I was a bit bendy (but not to the extreme) and POTS is very often (but not always) caused by EDS. He referred me to a rheumatologist who agreed that I was slightly hypermobile, but he was reluctant to label me with the condition. The neurologist who referred me to him seemed to ignore his opinion and has gone ahead and labelled me with it! My GP clearly has no idea what EDS is and questioned the diagnosis, as did a cardiologist I saw. The problem with this type of EDS is there are no tests to confirm the diagnosis - the diagnosis is made on clinical grounds. I'm not 100% convinced about the diagnosis myself, which is one of the reasons why I queried scleroderma.

I think I'll take all of your advice and go back to my GP. I've no doubt he'll be dubious about it, but it's worth a try. I just feel a bit guilty asking to be referred to yet another doctor. I've seen seven different consultants over the last few years including two neurologists, two gastroenterologists, a cardiologist, a rheumatologist and an ophthalmologist and I feel like a huge drain on the NHS. Also, systemic sclerosis sine scleroderma seems very unlikely considering how rare it is.

Anyway, thanks once again for all of your replies. I really appreciate it!

Bex

#7 Joelf

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Posted 06 March 2013 - 01:01 PM

Hi Bex,

 

I shouldn't worry about being referred to a bevy of consultants; many of our members have to see a regular army of specialists and in fact we had a competition on a thread here for the person who had the most "ologists"! ;) :lol:

 

It was won fair and square by Miocean, whom I'm sure will be along soon to show you her crown!!  :emoticons-clap:

 

Kind regards,


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