Scleroderma, or systemic sclerosis, is an autoimmune disease in which the body attacks its own healthy connective tissues, potentially affecting the skin, blood vessels, muscles, or internal organs. Scleroderma can be difficult to diagnose because many other autoimmune diseases have similar symptoms.
June is World Scleroderma Awareness Month, an annual event that promotes understanding of the complex condition and its impact on individuals and families. Recently, the State of Connecticut officially recognized World Scleroderma Awareness Month and World Scleroderma Awareness Day, which takes place on June 29.
To mark the occasion, Monique Hinchcliff, MD, MS, associate professor of medicine (rheumatology, allergy and immunology) and director of the Yale Scleroderma Program, discusses four things to know about the disease.
1. Scleroderma can be life-threatening.
Scleroderma has the highest case fatality rate of all the autoimmune connective tissue diseases, including systemic lupus erythematosus and rheumatoid arthritis, Hinchcliff points out. Lung disease is a leading cause of death in patients with scleroderma.
2. The first symptom of scleroderma often appears in the fingers.
Hinchcliff advises individuals who notice their fingers or toes changing color in response to cold or stress, also known as Raynaud phenomena, to visit their primary care physician. “In a small subset of patients, this can be the first sign of an autoimmune disease,” she said.
Other symptoms include puffy fingers, darkening or itchy skin, acid reflux, chronic cough, and voice changes. Scleroderma potentially affects the skin, lungs, heart, kidneys, and gastrointestinal tract.
3. Therapy is most effective when scleroderma is diagnosed and treated early.
Patient outcomes are better if treatment is initiated before the disease progresses and internal organ dysfunction occurs, according to Hinchcliff.
“It’s imperative to make the diagnosis early and institute lifestyle modification changes such as cessation of smoking or vaping and head-of-bed elevation to relieve acid reflux when patients are sleeping,” Hinchcliff said. “The problem is that typically, by the time a patient arrives at a specialty center, the mean disease duration is six years.”
Hinchcliff encourages primary care physicians to refer their patients to a specialist for diagnosis and treatment as soon as scleroderma or any autoimmune disease is suspected.
4. Misinformation about scleroderma is common.
Hinchcliff has seen patients who were told they had less than six months to live. “One of these patients first came to me over a decade ago, and we laugh about this now,” Hinchcliff said, noting that one common myth is that scleroderma is a death sentence.
Whereas in the 1970s and ’80s, few effective treatments were available, now most patients diagnosed with scleroderma go on to live healthy, productive lives. Hinchcliff stresses that there are currently many treatments and clinical trials available to patients.
“At the Yale Scleroderma Program, we make shared therapeutic decisions with patients to identify the best treatment for them, whether it’s something they inject underneath their skin, a pill they take, or an infusion they come in for monthly or every six months,” she said. “There’s a host of therapies, and clinical trials will lead to additional effective treatments.”
Hinchcliff recommends that patients empower themselves by visiting the National Scleroderma Foundation website or Scleroderma Research Foundation website to find support, resources, information, or a scleroderma center.
Yale School of Medicine’s Department of Internal Medicine Section of Rheumatology, Allergy and Immunology is dedicated to providing care for patients with rheumatic, allergic and immunologic disorders; educating future generations of thought leaders in the field; and conducting research into fundamental questions of autoimmunity and immunology. To learn more about their work, visit Rheumatology, Allergy & Immunology.