If I had to pick one autoimmune condition, which causes chills to run down one’s spine, I pick scleroderma.  The medical name for this condition is systemic sclerosis.  In a nutshell, systemic sclerosis is an autoimmune disease which causes inflammation in small blood vessels, which eventually can cause hardening of the skin and other major organs.

I quick Google search of scleroderma will inevitably present you with a horror show of images and stories from sufferers of this condition.

Yes, scleroderma is a terrible disease, but it’s also a terribly heterogeneous disease meaning that no two cases of scleroderma are the same.  There are mild cases and there are life-threatening cases.

Identification of early disease is probably one of the most important determinants of prognosis.  Well actually, it’s a little more complicated than that, but it is the one aspect that you can control:  The knowledge to know when to ask.

Types of Scleroderma

This is how rheumatologists breakdown scleroderma:

 

Basically, systemic sclerosis is when the disease affects the skin and internal organs and localized scleroderma is when it only involves the skin.  A lot of rheumatologists, included yours truly, believe that localized scleroderma and systemic sclerosis are actually two completely different diseases.

I’m going to concentrate on systemic sclerosis going forward.

Now we’re left with scleroderma sine scleroderma, limited systemic sclerosis, and diffuse systemic sclerosis.  Scleroderma sine scleroderma is systemic sclerosis involving the organs but not involving the skin.  This is super rare.

People that have limited systemic sclerosis have hardening of the skin that does not go past the elbows or knees.  They also tend to NOT have kidney involvement or inflammation of the lungs.  The disease course usually is insidious and sometimes is very difficult to detect, particularly during a 15 minute doctor’s appointment.

The last type is called diffuse systemic sclerosis.  It’s important to detect REALLY fast because it can progress quickly, because it can be deadly, and people simply do better when they’re treated early. People suffering from this type of scleroderma can have whole body hardening and are more prone to develop lung inflammation and kidney involvement.

Raynaud’s phenomenon

Almost everyone with any form of systemic sclerosis has something called Raynaud’s and esophageal reflux.  They also tend to appear early during the disease process, so these two symptoms are important to watch out for.

They say a picture is worth a thousand words.  Here’s an example of Raynaud’s… not the most dramatic example but that’s kind of the point.

 

Raynaud’s can involve your fingers and your toes.  Exposure to cold can cause it as well as a rapid change in temperature, and stress.  Raynaud’s is very common in women and for the most part is annoying but nothing serious.  The picture above is actually my hand.  This has been going on since my teens.  Let me tell you, I grew up in Canada.  Shoveling snow was kind of brutal.

About 15% of women have primary Raynaud’s (i.e., Raynaud’s without any underlying autoimmune condition).  Primary Raynaud’s typically first appears during one’s teens or early adulthood.  People with scleroderma tend to develop it later in life and  the intensity is A LOT more severe.  Sometimes the skin can become so ischemic (poor circulation) that it can cause an ulcer.  I have a lot of patients whom I’ve diagnosed with systemic sclerosis that told me that they thought that they had purple fingers because they were getting old…  This is NOT part of the normal aging process.

1. Onset of Raynaud’s at a later stage in life.
2. Raynaud’s complicated by ulcers.

Heartburn

Another symptom found in almost all people suffering from systemic sclerosis is heartburn.  This can present as chest pain, burning pain up your esophagus, nighttime cough, an acid taste in your mouth in the morning.  Sometimes people may have difficulty swallowing food and water.  Now, a lot of people have heartburn.  Just because you have heartburn, does not mean you have scleroderma.  You have to look at the entire picture.

3. Heartburn
4. Difficulty swallowing

Other common symptoms

Here is a list of other symptoms to watch out for:

5. Puffy fingers, VERY high yield symptom
6. Red spots all over your face, chest, and/or palms
7. Hardening of the skin
8. Shortness of breath with exercise

 

Conclusion

There are a lot more symptoms that I haven’t gone over.  But sometimes less is more.  If you can remember these 8 warning signs, you have a really good chance of detecting early disease on your own, and maybe even save your life or the life of a loved one.  Having more than one of these symptoms should prompt you to consult a rheumatologist for further evaluation and testing.

For more information, I highly urge you to visit the Scleroderma Foundation website. They provide useful information about scleroderma for both the newly diagnosed and those that have had the disease for a long time.  They’re also involved research and patient advocacy.  Needless to say, I highly recommend them!

If you want to learn more about Raynaud’s phenomenon and ways how to treat it, read on.

References

Rheumatology Secrets 3^rd edition

van den Hoogen F, et al. 2013 classification criteria for systemic sclerosis: an American college of rheumatology/European league against rheumatism collaborative initiative. Ann Rheum Dis. 2013 Nov;72(11):1747-55.

Minier T, et al. Preliminary analysis of the very early diagnosis of systemic sclerosis (VEDOSS) EUSTAR multicenter study: evidence for puffy fingers as a pivotal sign for suspicion of systemic sclerosis. Ann Rheum Dis. 2014 Dec;73(12):2087-93.

Scleroderma Foundation: http://www.scleroderma.org/site/PageServer#.WTC56WjytPY