You’ve probably heard of scleroderma, a group of rare autoimmune diseases, but the head of the Scleroderma Foundation says it’s not easy to define the condition that affects 300,000 people in the United States alone.
“One of the most challenging things about scleroderma is that it shows up differently in each person,” said Mary J. Wheatley, Chief Executive Officer of the Scleroderma Foundation. “Today, the face of scleroderma includes people of all ages, genders and backgrounds and affects young parents, children, grandparents and teenagers.”
Scleroderma, which can be mild, moderate or life-threatening, is either localized or systemic.
Systemic sclerosis is the buildup of scar tissue in the skin and other organs that can lead to complications such as pulmonary hypertension and interstitial lung disease. Impairment and failure of affected organs can also occur in the lungs, kidneys, heart and the digestive tract.
Localized sclerosis is the thickening of the skin and sometimes the muscle below, causing discomfort, discolored patches of skin, sores and limited joint movement.
Regardless of age or gender, the American Academy Of Dermatology says patients can experience a wide range of symptoms, including calcium deposits in the skin and digestive problems, such as gastroesophageal reflux disease (GERD), which causes heartburn, chest pain and difficulty swallowing. The condition is also associated with Raynaud’s phenomenon, where the fingers discolor in response to triggers such as cold or stress and patients experience a “pins and needles” sensation. Raynaud’s may lead to altered blood flow and may damage tissue leading to loss of tissue in the affected area, which can impact function and quality of life.
More women are affected by scleroderma, according to the American College of Rheumatology, and it commonly occurs in people between 30 and 50. Children can also develop scleroderma, but the disease progresses differently in children than in adults.
What happens in scleroderma? The condition hardens, tightens and thickens skin and connective tissues, such as ligaments and tendons, because the body makes too much collagen – a fibrous protein, according to Mayo Clinic.
Symptoms vary in frequency and in severity, which makes one patient’s experience quite different than the next, said Dr. Virginia D. Steen, Chair of the Scleroderma Foundation's Medical & Scientific Advisory Board.
“It would be nice to have a single description for all patients, but that isn't possible in scleroderma,” Steen said.
That makes it all the more important for patients to be seen by experienced clinicians who can spot the symptoms and make a diagnosis. Once diagnosed, treatment can minimize symptoms, prevent complications and treat problems if they arise, said Dr. Andrew Koenig, Global Medical Affairs Lead for Immunology at CSL Behring.
“Despite the advances made in understanding the spectrum of disease scleroderma can cause, there is still a need for earlier diagnosis and more treatment options for patients who have scleroderma,” Dr. Koenig said.
Steen would like to see more physician education and more rheumatologists who specialize in scleroderma care. Patient organizations like the Scleroderma Foundation are committed to that goal and the task of supporting the patient community, Wheatley said.
“By educating the health care community and the public about the signs and symptoms, we can increase the chance for early diagnosis which leads to better treatment outcomes – in many cases saving lives,” she said.
To get involved in the community, build awareness and find a support group, visit the Scleroderma Foundation’s web page.