Medical professionals team up for Albany-based study they hope will light the way to earlier diagnosis of scleroderma
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.
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| Dr Lee Shapiro |
“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.
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| Patricia Fennell |
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.
More Information: Scleroderma Foundation | Ann Steffens Scleroderma Research Foundation
More Information: Scleroderma Foundation | Ann Steffens Scleroderma Research Foundation
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