Despite being diagnosed with Scleroderma, Karen Hamilton, RN, has remained an avid cyclist. Hamilton has riden thousands of miles across several continents to raise funds and awareness about Scleroderma.
When Karen Hamilton, RN-C, CEN, CRRN, CFRN, MICN, NREMT-P, CCEMT-P, was diagnosed with Reynaud’s Disease in 1978, she didn’t think a lot about it. “At the time, I was smoking, so I felt that might have something to do with the spasms I had in my hands,” says Hamilton, chief flight nurse and program director of Aeromedical Transport Specialists, Inc, in Manassas, VA. Then several years later she broke out in hives that lasted a whole year without the cause diagnosed. “The hives were big, and even my lips were swollen,” she recalls. “I couldn’t even wear knee socks.”
She also began to have problems with pain spasms and the coordination of her hands. An avid cyclist, Hamilton blamed these carpal tunnel-like symptoms on cycling and weight lifting. Within another year or two, she experienced stomach problems and was diagnosed with a pre-ulcer condition. “I attributed this to a high-stress job,” she says. But by August 1986, she was having trouble swallowing. “I was drooling while I was thinking I had swallowed,” Hamilton explains. “I went in for an upper GI, which showed that I had very little esophageal motility and peristalsis.”
Hamilton met with specialists who told her that she had scleroderma, a rare autoimmune disease. “I had heard of scleroderma back in Nursing 101, but I had never seen a case of it in my nursing career,” Hamilton says. “It took eight years for me to be diagnosed; then I was told that I had the internal condition.”
The Anatomy of Scleroderma
Scleroderma literally means “hard skin,” a term that describes the most characteristic feature of the disease — hardening and scarring of the skin. While it is known that scleroderma causes the overproduction of collagen in the connective tissue, the cause is unknown.
It’s estimated that more than 300,000 Americans suffer from some form of scleroderma. Usually, the first time most people hear about this disease is when they or a loved one are diagnosed. Yet, there are as many cases of scleroderma as there are more recognized diseases such as multiple sclerosis and muscular dystrophy. More than 80% of those diagnosed are between the ages of 25 and 50.1 And although it affects people of all races and occurs in every country of the world, approximately four times more women than men develop the disease.2
“It is a disease that is fraught with misdiagnoses,” says Jane Wiles Hofherr, RN, BSN, nurse manager of the Scleroderma Center at Johns Hopkins Hospital in Baltimore, MD. “There is no one gold standard test, and one of the challenges in diagnosing is that there are so many diseases that have some of the same symptoms.” Like Hamilton, many of those who develop scleroderma may first exhibit symptoms seen with Raynaud’s Disease, as well as thickening of the skin on the hands and forearms.
Another source of confusion is that there is more than one type of scleroderma, and within each type there are several classifications. While localized scleroderma occurs only in the skin, the systemic type also affects internal organs. “It’s a progressive disease and its course can be sudden, or slow and insidious,” Wiles Hofherr explains. “Morphea, for example, generally runs a course of three to five years, then the skin softens.” Because this type of the disease is self-limiting, the prognosis is good. However, when organ involvement is part of the disease process, the prognosis is less bright. In addition to affecting the skin, when the disease takes the systemic form, thickening of tissues can occur in the heart, lungs, gastrointestinal tract, and kidneys. It may also affect blood vessels, muscles, and joints.
Searching for Solutions
“There is no known cure for scleroderma,” says Mildred Goeke Sterz, RN, MPH, national coordinator of the Heart, Lung, Blood Institute (HLBI) of the National Institutes of Health at UCLA in Los Angeles, where research is being conducted. As coordinator, Sterz works with both nurses and patients involved in scleroderma research at other sites, as well.
She explains the study rationale: “Approximately 70% to 80% of scleroderma-caused deaths are due to lung disease,” she explains, “so our study is targeted toward treatment of patients who have had scleroderma less than seven years, and present with pulmonary symptoms — like shortness of breath; a decrease in forced vital capacity (FVC), 85% or less on pulmonary function testing; and the presence of alveolitis which is thought to be a precursor to pulmonary fibrosis.”
The national HLBI study is a randomized study of the efficacy of Cytoxin™ in treating or preventing pulmonary fibrosis. Pulmonary function is checked every three months, and the patients are followed very closely. “If the FVC drops 15%, the patient’s treatment is considered a failure, and the patient is placed on the open drug portion of the study,” Sterz says. Patients in the clinical trials receive healthcare with no out-of-pocket costs.
Although many physicians already prescribe Cytoxin™ to treat scleroderma and/or scleroderma lung disease, it has never been properly researched to confirm that it’s an effective treatment. This is the first randomized controlled trial to address this question. “Enrolling an adequate number of patients in the study continues to be a challenge,” says Sterz. “So, the more people we can inform about the study, the better chance we have of identifying eligible patients to be screened.”
Researchers are searching for both a cure and improved treatment. Wiles Hofherr says, research indicates that a gene may be present that is triggered environmentally. “At Johns Hopkins, we are very active with scleroderma research,” she says. “Presently, we are conducting quality of life studies and research on Reynaud’s phenomenon. We’re looking at genetics and the environment.” One exciting breakthrough in treatment, she continues, is the development of IV and oral medication that treats pulmonary hypertension.
Other research centers, funded by the Scleroderma Research Foundation (SRF), are working to determine how scleroderma progresses in the body. One of these SRF funded centers, the Bay Area Center at the University of California at San Francisco, is conducting research into many facets of scleroderma. By providing support for “strategically focused-based investigations” in a variety of scleroderma-related fields, the SRF hopes to identify the triggers and an eventual cure.3
Symptom Treatment and Support
While research continues to seek answers, nurses working with victims of scleroderma provide holistic, compassionate care. “As with any chronic disease, quality of life is very important,” says Wiles Hofherr, “and the disfigurement that is part of this disease can result in depression. We find that when the patients can keep their spirits up, we see better outcomes.” In addition to the use of antidepressants, if indicated, treatment is geared to symptom management, pain relief, and prevention of contractures. “We do intensive skin care involving lubrication, and often gentle physical therapy is used,” she explains. If Reynaud’s Disease, hypertension, gastrointestinal symptoms, or other organ involvement is present, appropriate medication is ordered.
Sterz remains optimistic about the work being done with victims of scleroderma. “Over the past 20 years I have seen the quality of life improve for these patients,” she says. Still, the disease can be devastating to its victims. The result of the thickening of the skin is often most evident on the face. Taut lips, wrinkling around the mouth, and shiny skin result in disfigurement that often makes it difficult for these individuals to go out and live their lives comfortably. “A high percentage of our patients also present with involvement of their hands,” explains Sterz. “Their hands become swollen, taut, and, finally, claw-like.”
Sterz stresses that nurses who care for these patients must encourage them to keep moving — to exercise and stretch — in spite of the pain. “The disease can be very aggressive, then subside,” she says. “If we can avoid contractures for the first three years, you may be able to prevent the hands from contracting.”
Wiles Hofherr underlines the importance of early diagnosis. “If you see a patient with scleroderma or with symptoms of scleroderma, advise the patient to seek help at a major treatment or research center,” says Wiles Hofherr. “We find that patients diagnosed early in the disease do better.”
Both Wiles Hofherr and Sterz speak of the courage of their patients. “As a group, our patients with scleroderma are hopeful and upbeat, so I need to be ever optimistic, also,” says Wiles Hofherr. Sterz adds, “Our biggest challenge is to encourage our patients and their families to go on with life.”
For Hamilton, learning that she had the systemic type of scleroderma was very frightening. “When I met with the physicians, I was told that, statistically, I had seven years to live,” she says. Initially she felt numb, panicky, and unable to tell her family. “Then, after a time of feeling sorry for myself, I decided to be positive,” she explains. “You must not think negatively. Don’t accept the predicted life span for then it could become a self fulfilling prophecy.”
Instead, Hamilton has taken charge of her life and continues to work productively, both in her career and in increasing the public’s awareness of the devastation that scleroderma wreaks on those who suffer with this disease.
Margaret Hawke, RN, MA, is a contributing writer for Nursing Spectrum.
1. About Scleroderma. Scleroderma Research Foundation website. Available at: www.srfcure.org/home/index.html. Accessed June 2, 2002.
2. Scleroderma Fact Sheet. Scleroderma Foundation website. Available at: www.scleroderma.org/fact.html. Accessed May 24, 2002.
3. Research and Science. Scleroderma Research Foundation website. Available at: www.srfcure.org/research/index.html. Accessed June 2, 2002.