Living with a Mysterious Illness: Scleroderma

By Kathleen Hoffman, PhD, MSPH

Unless you’re a specialist, you might not recognize a chronic disease that is named for its effect on the skin — but might not appear there. It’s scleroderma. In fact, the symptoms vary greatly for each person: From 75-90% of patients have GI symptoms with it; it can be visible or invisible; it can come and go or last a lifetime; and can be mild or life threatening. The cause is unknown and it might appear at any age., It affects about 300,000 people in the US, about a third of whom have it systemically. Nearly 80,000 members of Inspire have shown an interest in this rare condition and over 300,000 posts have been written about it.

Scleroderma, meaning “hard skin,” is a group of rare chronic autoimmune diseases that invoke a response where the tissue overproduces collagen, part of the process involved in scarring. The excess collagen narrows blood vessels and reduces the flow of blood to body tissues and organs, so sclerosis mimics symptoms of other conditions, making diagnosis elusive.

Most commonly, though, people first experience symptoms in their hands including puffy fingers or intolerance to cold (and get referred to a rheumatologist) or patches of waxy skin (and get referred to a dermatologist).

As one member of The Scleroderma Foundation Support Community on Inspire said: “[T]he one thing you need to hang on to is that there is no road map for this disease.”

For example, here’s a member describing their experiences on the way to a diagnosis:

It all started about 2 years ago. My fingers started feeling swollen and tight. I went to my GP and he thought maybe it was RA [rheumatoid arthritis] but wasn’t too concerned. …the first Rheumotologist thought it was more RA than Scleroderma as I don’t have any outward signs of skin thickening on my hands, though they remain feeling swollen and tight. He put me on [medication] and that brought my RA factor back to normal. Since then, I have new insurance and had to go to a different Rheumotologist. He does not think I have RA but that I do have Scleroderma even if I don’t have alot of the outward signs.

This member was finally diagnosed with limited scleroderma.

The path to diagnosis and treatment has become shorter in recent years because physicians can test for markers in the blood called autoantibodies. In general, a patient will only produce one scleroderma autoantibody, and not multiple. Once positive, the autoantibody does not change over time. While there is no cure, symptoms can be abated and in some cases the disease spontaneously goes into remission.

In a thread titled, “What were you treated with that made you feel a lot better?,” members shared their treatments:

When I was first diagnosed with systemic scleroderma (with renal failure), the first rheumatologist I went to put me on 2000 mg of [medication]… [having a doctor advise] lowering the dose was my solution.

Another member shared:

My dermatologist gave my a steroid shot and did a microneedling treat on my hand and fingers to help with the hardening and information, it seems to be working.

I have limited systemic scleroderma. My fingers are puffy and tight, and my hands and wrists ache terribly all the time. My rheumatologist does not believe me and says your hands should not ache. Other joints ache as well

Patients with rare diseases like scleroderma find their peers, share their experiences, and compare treatments on Inspire. Our members’ collective wisdom is a source of insight and advice in living with this mysterious condition.

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