Medical professionals team up for Albany-based study they hope will light the way to earlier diagnosis of scleroderma
By Stephen Leon
February 18, 2018
In 1998, Sarah, a woman in her mid-’50s, was not feeling well and was referred to a rheumatologist, who diagnosed her with a chronic connective-tissue disease known as scleroderma. The diagnosis was accurate, and Sarah received treatment for her immediate symptoms, but she was not sufficiently educated on the potential complications from her illness—especially kidney disease, and the symptoms that might have been early warning signs.
When Sarah began to experience worsening discomfort and fatigue, she made an appointment to drive from her home in Schenectady, NY, to Pittsburgh to see Dr. Virginia Steen, a highly regarded authority on scleroderma and renal health. Sarah knew she didn’t feel well, but she didn’t know how to interpret her symptoms, or that her illness could lead to kidney failure. And she was so exhausted traveling to Pittsburgh that she made an unplanned overnight stop to gather strength to finish the trip.
Sarah made it to Steen’s office the next day, but had a grand mal seizure in the waiting room. In the space of a few days, she suffered kidney failure, heart failure, and multiple strokes—all of which could have been avoided.
Sarah survived, but she was never the same. When she was cleared to leave Pittsburgh and come home, Steen referred her for ongoing care to Dr. Lee Shapiro, a Saratoga Springs-based specialist who had trained at the renowned scleroderma center in Pittsburgh.
“The treatment that could have spared her,” says Shapiro, “was education—of the risk of renal crisis, and of the warning signs of severe hypertension, and instruction in home monitoring of her blood pressure on a regular basis. … If she had been instructed to check her blood pressure when she felt poorly in any way, she would have quickly recognized the new development of severe hypertension. She would have [known] to contact her rheumatologist so that therapy with an ACE [angiotensin converting enzyme] inhibitor could have been immediately initiated and titrated upward … until blood-pressure control was achieved.”
“She went out there looking like a normal person,” Shapiro says. “And she came back in a wheelchair, on dialysis, in heart failure, confused, and with one side paralyzed.”
“Her son asked me, if there’s a treatment, why did this have to happen?”
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.
Shapiro likes to make the point that scleroderma is as common as multiple sclerosis, and more common than cystic fibrosis—yet the latter two are household words, while scleroderma remains relatively unknown.
“If you went out and asked a hundred people about scleroderma,” Shapiro says, “the largest group would say they had never heard of it. The second largest group would say, ‘I knew someone who died of it.’”
And if the general population lacks familiarity with scleroderma, the medical community is only slowly coming up to speed, especially when it comes to education and early diagnosis.
Patricia Fennell, a clinician, researcher, and chronic-disease expert—and the founder and president of Albany (NY) Health Management Associates—offers this example: a patient’s arm pain lands them in an orthopedic office, where they might be diagnosed with carpal tunnel syndrome, when they may be suffering with scleroderma instead of—or in addition to—carpal tunnel. So they are treated for the latter, while treatment for scleroderma is delayed for however long it takes to get a proper diagnosis.
And this is just one example. In Sarah’s case, she was not misdiagnosed, just miseducated. But the failure to diagnose progressive scleroderma at all can lead to renal failure, or two other outcomes that have eclipsed renal crisis in terms of their impact on life expectancy: pulmonary hypertension and pulmonary fibrosis.
The historically high numbers of poor scleroderma outcomes have created a stigma of dread, for patients and even for some doctors, around making a scleroderma diagnosis in the first place.
In most instances today, Shapiro asserts, scleroderma “is not a life-shortening or life-threatening disease. And all of those complications that are potentially life-threatening have treatments now that didn’t exist a few years ago.”
But most people don’t know that, and if they have heard of the disease before receiving a diagnosis, they may “have a preconceived notion about it, and it’s a very dark one.”
Another problem, he says, “is that a lot of doctors share this view of scleroderma as about the most horrible diagnosis they can give, not recognizing the gradations of severity. I’ve had patients come in and say what their [previous] doctors have told them.”
“One said, ‘You either have scleroderma or lupus, and you better hope it’s lupus.’”
Shapiro diagnosed scleroderma, and the patient was treated successfully—but with the previous doctor’s words still fresh in her mind, she had to go on medication for anxiety-related hypertension.
In another case, the doctor said, “You don’t know how lucky you are you don’t have scleroderma.” And before she left the examination room, he popped his head in the room again and said, “You really don’t know how lucky you are you don’t have scleroderma.”
Again, Shapiro diagnosed scleroderma. And like the patient in the previous example, she’s in good health today.
With growing awareness of scleroderma, more patients are getting the diagnosis they need. Shapiro is hopeful, but acknowledges that there are still doctors who are afraid to have to make a diagnosis. “And I think they aren’t quite aware of the spectrum of the disease. You can have just a little bit of scleroderma. Or you can have disease that doesn’t progress.”
“The sooner we make a diagnosis,” he says, “the better we can avoid catastrophic complications in patients with more aggressive [forms of the] disease—and reduce the anxiety of everyone else.”
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.”
In 1977, Shapiro was finishing up his studies at Columbia University’s medical school, and it was time to submit his preferences for where to do his internship. And he was not pleased when he was assigned to Pittsburgh’s Presbyterian University Hospital, which was far down on his list.
“I may have overshot the mark in terms of my aspirations,” Shapiro recalls, “but I was initially surprised and disappointed to end up in Pittsburgh.”
What Shapiro could not have known at the time was that fate had taken its first step in guiding the young doctor toward a career specializing in scleroderma. And Presbyterian University Hospital (now the University of Pittsburgh Medical Center) “was the national center for scleroderma at the time, unbeknownst to me when I got there.”
It didn’t take long for Shapiro to become more familiar with his surroundings, and with the disease. “My very first patient in my clinic had scleroderma,” he says, “and that got me acquainted with the physicians there who were focused on it.”
Shapiro recalls that it was “a very important, very dramatic time for scleroderma.” There was no treatment yet for the complication known as “scleroderma renal crisis,” but while he was there, an ACE inhibitor was being developed, which changed the one-year survival rate from 15 percent to 85 percent. “So the treatment came out 40 years ago, it’s still used, it still works. If the diagnosis is made too late, the life might be saved, but the kidneys will fail. About 50 percent of the patients still end up on dialysis.”
Shapiro stayed in Pittsburgh for five years, still focused on general rheumatology. “I did not start out with aspirations to be a scleroderma researcher.”
He accepted a job offer in the Albany area in 1982, with no specific intention of seeking scleroderma patients. But he got referrals anyway, because he had come from Pittsburgh.
Shapiro began to warm up to scleroderma as a career, in part because the area had a scleroderma foundation and a patient support group. Though he initially had thought of scleroderma practice as “difficult and depressing,” as it became more a part of his work, he noticed that “it wasn’t as difficult and depressing for me [as it was for other doctors], because I was already familiar with it.”
And he began to pay attention to what one might call nudges from the universe. In 1999, while on a self-imposed break and visiting a friend in London, they took a walk, turned a corner, and saw a sign that read “Scleroderma Clinic.”
“I took it as a sign,” he says. He stayed for three and a half months, working at the clinic and sharing an office with a junior faculty member, who now runs the clinic. Today, 19 years later, they do research together.
At a scleroderma walk in 2009, Shapiro saw a woman, Helen Polenz, whose daughter, Ann Steffens, he had cared for. Unfortunately, there was no treatment for the complication Steffens had developed, and she died in 1997. At the 2009 walk, Polenz handed him an envelope, and said, “This is for your research.”
It was a check for $50,000, and Shapiro used it to set up the Ann Steffens Scleroderma Research Foundation, which he directs today.
Copyright 2018 Stephen Leon
This post also appears on the website of Albany Health Management Associates, Inc., directed by Patricia Fennell, MSW, LCSW-R.