Scleroderma

What is Scleroderma?

Scleroderma is a chronic connective-tissue disease. There are two major classifications of scleroderma — localized and systemic — and subcategories within those. Historically, the disease has been difficult to diagnose because it presents with many different symptoms, which can fall within a variety of other diagnostic groupings and may overlap with other diseases.

In the localized form, also known as “morphea,” patches of thickening skin develop without any other disease features.

Systemic sclerosis, which can emerge slowly or suddenly, combines three features: autoimmunity (if blood tests are performed, there are almost always auto-antibodies present), fibrosis (excess collagen deposits in the skin, and sometimes in the lungs, heart, or liver), and vascular (blood vessel) disease. Early on, scleroderma can present with puffy hands, numb hands (carpal tunnel syndrome), discolored fingers, heartburn or difficulty swallowing bread or meat, and occasionally, cough and shortness of breath. Skin thickening can vary greatly in extent, almost always involving the digits, sometimes the face, less often rapidly spreading to involve the upper arms and legs and even the chest. (For more information, see scleroderma.org or steffens-scleroderma.org)

While experts vary in their opinions, it is thought that scleroderma may be triggered by any of the following: viral or bacterial infections; hereditary factors; exposure to pesticides, epoxy resins, or solvents; or even by an accident or a stressful event. Scleroderma affects more women than men, typically between the ages of 30 and 50.

Mindful of the need for better education and awareness, Shapiro and Fennell have teamed up to create a research study titled “Scleroderma: Pathways to Diagnosis.” The two conceived the study when they talked at a scleroderma conference in 2016, and spent six months designing it along with two other primary investigators, Dr. Nancy Dorr and Roberta Lukasiewicz. The study was launched in the summer of 2017, and Fennell is surprised and pleased at the results thus far, as the study requires voluntary participation by patients walking through the clinic door.

“Why we’re so excited,” she says, “is we have about 80 participants.” In the doctor’s office, they are invited to participate in the study—"and there is a regulated way to do it. We don’t pressure them. If we had gotten 20 by this point, we’d be thrilled.”

The researchers are collecting data on scleroderma patients to compile information on their diagnostic experience. “With most people,” Shapiro says, “it’s a very visual diagnosis. You don’t need to be a physician to suspect it. So we’re gathering these stories to see how long a path it was, what were the diagnostic pitfalls, and finally, what clued either the physician or the patient to the diagnosis … and we want to record patients’ best recollections of how the diagnosis was presented.”

Participants take a qualitative, open-ended questionnaire, either right there in the office, or later at home.

“At its broadest, our hypothesis is that it takes a long time for these patients to get diagnosed,” Fennell says. “The big goal is to shorten that diagnostic window for patients.”

With this data, the researchers hope to improve doctor training and, ultimately, to shorten the time it takes to get a correct diagnosis of scleroderma. If the problem is that not enough doctors want to do this work, and patients are waiting too long to be diagnosed, Fennell says, “OK, but in order for us to change something in the medical world, we have to design something that establishes there is a problem worth changing. We know there’s a problem, but we have to substantiate it.”

• "Unmasking a Disease" – by Stephen Leon (blog post, Feb. 23, 2018)

• Pathways to Diagnosis (current research)

• Scleroderma Foundation

• Ann Steffens Scleroderma Research Foundation

The Diagnostic Pathways to Scleroderma Project

Scleroderma: The Truth from Virginia M Orzel

The Steffens Research Foundation presents: 
The 2nd Interprofessional Education Event: Focus on Scleroderma

Faculty and students from various area health schools, an expert panel, and a team of patient volunteers engaged in an interactive exercise employing effective strategies of coordinated care between specialties.  The goal is encourage collaboration among professonals, who have learned to see their role as members of a diverse team.  Scleroderma makes an excellent model due to the numerous and complex needs of a patient with this diagnosis.

Steffens Research Foundation: Breaking the Chains