At first, doctors thought it was carpal tunnel syndrome. The diagnosis made sense to Shannon Abert, a high school algebra teacher whose hands couldn’t scratch out equations on the chalkboard like they used to. But treatments didn’t help and, soon enough, Abert began developing an ulcer on the tip of her finger. “I couldn’t even describe how I felt,” she says.
After being directed to a rheumatologist a few months after her initial symptoms appeared in 2002, though, she could at least give the feeling a name: scleroderma, a chronic connective tissue disease meaning “hard skin” that involves the overproduction of collagen.
“I had never heard it before,” says Abert, now a 49-year-old in Houston. “I figured that now that I know what it is, they’ll take care of it.”
[See: 5 Rare Diseases You’ve Never Heard Of (Until Now).]
But “taking care of” scleroderma — which is sometimes called “systemic sclerosis” to differentiate it from the purely dermatological form of the condition — isn’t that simple. The disease, which essentially causes scar tissue to build up on the skin and sometimes other organs, has no known cause, no cure and varies widely between patients. “It’s a mind-boggling disease,” says Dr. Leroy Griffing, a rheumatologist at the Mayo Clinic in Phoenix. “Scientifically, it’s absolutely intriguing.”
In most cases, scleroderma limits mobility, particularly in the hands. “They’re unable to grip, to bend their elbows, to make a fist, to do tasks of daily living,” Griffing says. “The extreme of that is they end up with ulcers that don’t heal and they end up with amputations.” For Abert, open wounds once landed her in the intensive care unit. She’s since had six hand surgeries, stopped working and struggles with cans, bottles, doorknobs and some ATMs.
In some cases, scleroderma causes scarring on internal organs. In the gastrointestinal tract, that can lead to acid reflux and malnutrition; in the lungs’ blood vessels, it can lead to pulmonary arterial hypertension. Most seriously, if scarring occurs in the lungs’ deep tissue — also called fibrosis of the lungs — it can lead to death. Scleroderma can also cause physical deformities, extreme fatigue (“our bodies are constantly fighting what’s not there,” Abert explains), joint problems like tendinitis and more.
“It’s actually probably many similar but different diseases that cause scleroderma,” says Dr. John Varga, director of the Northwestern Scleroderma Program at the Northwestern University Feinberg School of Medicine, who points to advances in precision medicine as promising for the disease’s treatment. “That’s going to lead to much safer treatments and much better outcomes.”
Diagnosing a Complex Disease
The systemic form of scleroderma affects about 100,000 Americans, mostly women, according to the Scleroderma Foundation. That’s far less than the millions of Americans who have arthritis and the roughly 1.5 million who have lupus — both of which scleroderma can initially be mistaken for.
“You have to have some experience with [scleroderma] before you can recognize what it is,” says Dr. Maureen Mayes, a professor of rheumatology and clinical immunogenetics at McGovern Medical School at The University of Texas Health Science Center–Houston, who treated Abert. “And sometimes, because it’s rare, internists don’t pick up on some of the early signs” like Raynaud’s syndrome, or an extreme sensitivity to cold, which about 95 percent of people with scleroderma experience.
Once patients reach a diagnosis — typically from a rheumatologist who performs blood tests and analyzes patients’ symptoms — the question is: What body systems are affected? If it’s only in the skin, for example, patients may take medications to suppress the immune system, undergo physical or occupational therapy, get hand surgery or pursue a combination of treatments.
[See: 10 Ways to Prepare for Surgery.]
If the condition affects the digestive system by weakening the muscles in the esophagus, patients may take medications like proton pump inhibitors to treat acid reflux or heartburn. Patients found to be at risk for scleroderma renal crisis, or a sudden increase in blood pressure that can damage kidneys and lead to stroke and renal failure, are typically advised to monitor their blood pressure frequently. If scleroderma causes scar tissue to build up in the lungs, a chemotherapy drug like cyclophosphamide may be used to help slow the progression of the disease by aggressively suppressing the immune system, but it can come with serious side effects like an increased risk of infection.
“There are no FDA-approved drugs specific to scleroderma at all,” Griffing says, although more options are developing. “Our managing the illness for patients is directed toward caring [for] each of the individual organ systems that are affected in this disease.”
Living With Scleroderma
One unexplainable bit of good news about scleroderma is that the skin tightness tends to ease up after the first few years. “It always felt like I was wearing jeans that were too tight all over,” remembers Abert, who continues to manage the disease with a steroid to fight inflammation, Nexium to treat acid reflux, aspirin to ease her joint and muscle pain, and sleeping pills to help her rest. She regularly visits a rheumatologist, primary care doctor and a cardiologist, who monitors her heart and lung function.
“We don’t call it remission because it never goes away,” she says, “but ‘plateauing’ to a level where it’s manageable and we’re used to it.”
Today, one of Abert’s biggest challenges is social. While she used to be able to go to work, the gym and grocery store all in one day, she now limits herself to one errand a day. Volunteering at a local chili cook-off, for example, required her to plan nothing the day before and clear her schedule two days after. “A lot of things people are doing — I can’t keep up,” she says.
But research and treatments are catching up, experts say. For example, a study conducted by Mayes and colleagues found that mycophenolate, which is typically used to help prevent organ transplant rejection, is effective for treating lung fibrosis in scleroderma patients and is much less toxic than cyclophosphamide. Other research is revealing that bone marrow transplantation can help treat the condition, although not without risk. “We’ve made incredible progress in research and better understanding the disease,” says Varga, whose yet-unpublished research on fat stem cells for scleroderma treatment is promising.
[See: 10 Lessons From Empowered Patients.]
Meantime, education, support and maintaining a healthy lifestyle can help people with the condition cope. “[Scleroderma patients] are very dignified in the face of adversity,” Varga says. “It’s very inspiring.”
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What Is Scleroderma? originally appeared on usnews.com
