How were you diagnosed with Scleroderma?

[Greetwell]

I have recently been diagnosed with systemic scleroderma. My consultant seems to have based his diagnosis solely on my blood being tested positive for SCL70 antibodies and the fact I have Reynauds with a digital ulcer. I was expecting a rather more comprehensive set of tests plus evidence of the progress of the disease in my body. I have no symptoms. I'd like to know other people's experience on their diagnosis.

[Prettyfalcon]

Hello there,

My experience has been similar, although I had some additional symptoms such as swollen, puffy hands and some tightening of the skin on my arms/legs and sore joints.

I’m no expert but I believe scl70 antibodies are unique to SSc. It’s normally enough for a diagnosis but a capillaroscopy is also useful to see how established the disease is, i.e. is it mild, progressive etc. My local rheumatology dept has no real knowledge of SSc due to how rare the condition is so seeing a specialist is really important to ensure you get a proper prognosis and treatment plan. I cannot recommend Professor Denton and his team at the Royal Free enough.

You haven't mentioned treatment but I’m assuming they are helping you with the Raynauds and DU?

This forum has been brilliant at providing guidance and comfort, it’s a lot to take in when you get a diagnosis of SSc and everyone’s experience with it seems to be different. Keep asking your consultant questions and try to stay away from Dr Google if you can - the advice given is a bit outdated and rather bleak!

Good luck with everything

[Greetwell in reply to Prettyfalcon]

Thanks for your response. As I said apart from Reynauds I have no other symptoms which makes me reluctant to take any heavy duty drugs without understanding more about the nature of the scleroderma I have and what organs have been affected. I've been prescribed Azathioprine although I have yet to discuss this with the rheumatology nurse before starting. To my mind it seems premature to start taking something when I feel well. Two months ago I was diagnosed with inflammation of the lining of the heart, pericarditis. That has settled now after a short course of antibiotics and anti inflammatories. This can be related to connective tissue disease such as lupus and scleroderma but is more likely to have been caused by a viral infection. Coincidence? I don't know. I've no specific treatment for Raynaud's or the digital ulcer. Perhaps the Azathioprine is intended to deal with these issues as well. You can tell that the medication and treatment plan has not been well communicated!

[Whistler81]

I think you are rather fortunate in getting a confirmed antibody result. I was told Scl50 was negative although I had all the signs of Scleroderma. I was unaware there were further tests until I insisted in a repeat etc … Scl70 also came back positive. Now on mycophenolate and hydroxychloroquine which have eased the symptoms considerably although stiff hands remain the ever present.

Hope this helps

[Smoopy]

I too have a diagnosis based on bloods and Reynauds alone. Have been seeing rheumatologist for 1 year. Am getting chest xray, lung function and echocardiogram annually so they can monitor whether disease is progressing. I do also have Sjogrens. Dry mouth was the reason for going to gp in the first place. That eventually got diagnosed after being referred by dentist. I have no other symptoms fortunately.

[Greetwell in reply to Smoopy]

HiThanks for your reply. I see quite a lot of similarity between your diagnosis and mine. Are you on any medication yet? If not, and you have no other symptoms, is your rheumatologist just keeping an eye on your condition and holding back on prescribing medication at this stage?

[Smoopy in reply to Greetwell]

I’m on Nicedipine which Rheumatologist recommended for Raynaulds in winter but then gp prescribed anyway due to high blood pressure and Lansoprazole because they found Hiatus Hernia during scan to find cause of pain under left rib. I was told it was Limited Cutaneous sclorosis from blood test and think Rheumi described it as undifferentiated but strong ana. Just annual monitoring.

[ThreeColoursGreen]

Hi. I have been lucky enough to have a pretty thorough diagnostic process, I think. I hope your rheumatology department will give you some guidance about the reasons for your diagnosis.

I had Raynauds for years before I went to get help about it; other symptoms crept up on me over the years but I thought they were just part of getting older. I only eventually realised that they were part of my condition because the rheumatology department had in-depth conversations with me at my appointments and drew the information out of me.

The symptoms that made me go to my GP for help in getting a diagnosis, in the end, were stiff swollen fingers, worsening Raynaud's, tiredness, a dry cough, dry eyes and mouth and joint pain.

My GP referred me to rheumatology and I asked to be referred to the department at the general hospital closest to me. I was given an x-ray of my hands and one knee quite soon after this, but didn't hear about my results, and then I was on a waiting list for a year.

I went back to my GP because my Raynaud's was really troublesome, and I'm not sure if she had called the rheumatology department or if I just got to the top of the list but I was given an appointment at the rheumatology department soon afterwards.

I had several appointments over the next couple of months (this summer) and tested positive for SCL70. The consultants physically examined me and established that my skin was thicker on my hands and forearms with a feeling of tightness in my upper arms, and my mouth opening capacity was slightly reduced, and that I had been experiencing occasional reflux and frequent indigestion. They listened carefully to my breathing. I had already had a spirometry test at my GPs last autumn, with normal results, but I had had Covid and pleurisy during the following winter and was now always wheezing slightly, and the consultant noticed this.

At another appointment the consultant did an ultrasound of my hands. This last appointment was the one at which I was given my diagnosis. I'd been reading about scleroderma and knew I had symptoms of it, and although it was validating to have a name for it I think I was gaslighting myself a bit and asked him something on the lines of 'is it possible that I've just been making an unnecessary fuss about nothing and that I'm not really ill?'. He said no, the investigation was pretty conclusive.

I was prescribed Hydroxychloroquine and am now also prescribed Omniprazole, Nifedipine and Mycophenolate. I had a few more appointments - one with a nurse in the rheumatology department, a couple with the OT, a lung function test which came out as normal, and then an MRI scan which showed a few issues. Some of those issues were probably not due to SSC but others the consultant interpreted as being part of the condition, including signs of mild lung disease and swollen lymph nodes.

I hope you get some clarity soon, and that a timely diagnosis and treatment will keep in check any other symptoms that might arise.

[Greetwell in reply to ThreeColoursGreen]

Thanks for your response. As I said apart from Reynauds I have no other symptoms which makes me reluctant to take any heavy duty drugs without understanding more about the nature of the scleroderma I have and what organs have been affected. I've been prescribed Azathioprine although I have yet to discuss this with the rheumatology nurse before starting. To my mind it seems premature to start taking something when I feel well. Two months ago I was diagnosed with inflammation of the lining of the heart, pericarditis. That has settled now after a short course of antibiotics and anti inflammatories. This can be related to connective tissue disease such as lupus and scleroderma but is more likely to have been caused by a viral infection. Coincidence? I don't know. I've had no specific treatment for Raynaud's or the digital ulcer. Perhaps the Azathioprine is intended to deal with these issues as well. You can tell that the medication and treatment plan has not been well communicated! I'm seeing a specialist privately in a few days and hoping to get some better answers.

[cheeselover342]

Hi there. There are so many different routes to diagnosis it seems and symptoms vary hugely. My first symptoms in 2018 were sudden onset of quite bad indigestion and reflux. Followed a few weeks later by really stiff, swollen, red hands. I was extremely fortunate that my GP happened to have a particular interest in both rheumatology and dermatology and immediately suspected scleroderma. After numerous scans and various tests I was eventually diagnosed with diffuse cutaneous systemic sclerosis in 2019. Initial bloods were confusing and were repeated but the outcome was strong positive ANA, nucleolar staining pattern, ENA negative, immunoblot negative. Final diagnosis was confirmed following a positive skin biopsy. I was later discharged by dermatology but remain under rheumatology with regular blood tests, lung function tests and echocardiograms. I have been prescribed Esomeprazole, Gaviscon Advance, Mycophenolate and Hydroxychloroquine. I am fairly stable on this regime at the moment.

I hope your treatment is effective but do keep pestering the medics for more information (and yes don't use Dr Google too much!) Best wishes. x

[Redwine53]

hello Greetwell, I had swollen ankles, aching legs when going up the stairs so my daughters nagged me to go to the gp , this was September 2019. I was so lucky as when she ordered a blood test she included ck to be tested. It was 1800 and I was sent to ambulatory care at my local hospital, where I had more blood tests, X-ray, ct scan, ecg , bp and had so many questions to answer. Anyway I was diagnosed 10 days later with scelerderma, lupus and myositis. I immediately started on 20mg prednisolone, hydroxychloquine and mycophenolate. Since then my bp is raised, as is my cholesterol, it was normal back then :(.

Good luck in getting sorted.

[waermebaer]

This (picture) is the officical Diagnosis Algorithm / Scoring Model (by ACR and Eular) to diagnose Systemic Sclerosis. If your doctor does not know or use this, he / she is probably not very familiar with Systemic Sclerosis. I hope this helps.

Diagnosis Algorithm / Scoring Model to diagnose Systemic Sclerosis

[Kilncadzow]

I had a skin biopsy done.

[JessicaEccles6]

this is how I was diagnosed. Had had various strange symptoms for a long time but went to the GP in the end simply because I was continually feeling exhausted.

I had had Raynaud's practically all my life so luckily my GP was smart enough to see scleroderma as a possibility and send off for the relevant blood tests.

I know a diagnosis is pretty scary and final sounding, but at that point I'd been having symptoms for years and was never taken seriously,

[Greetwell in reply to JessicaEccles6]

Thanks for your response. Apart from Reynauds I have no other symptoms which makes me reluctant to take any heavy duty drugs without understanding more about the nature of the scleroderma I have and what organs have been affected. I've been prescribed Azathioprine although I have yet to discuss this with the rheumatology nurse before starting. To my mind it seems premature to start taking something when I feel well. Two months ago I was diagnosed with inflammation of the lining of the heart, pericarditis. That has settled now after a short course of antibiotics and anti inflammatories. This can be related to lupus but is more likely to have been caused by a viral infection. Coincidence? I don't know.

[JessicaEccles6 in reply to Greetwell]

I completely understand. The only caveat I would add is that the quicker you can respond to symptoms, the better the prognosis is. I wasn't properly diagnosed for nearly ten years and I feel as if the effect on my body has been much more severe