Scleroderma’s threat is more than skin deep

The mysterious autoimmune disease tightens connective tissue, leading to a host of problems, including interstitial lung disease, that require multidisciplinary care
January 5th, 2018

Dr. Aryeh Fischer is a rheumatologist who is an expert in diagnosing and treating lung disease in patients with a condition that is too often associated only with the skin.

A woman named Joy Matthews stands in a swimming pool with a floating beer cooler that protects her oxygen tank.
With the help of a floating beer cooler that protects her oxygen tank, Joy Mathews is back to swimming to slow the progression of her lung disease.

If that sounds confusing, it’s befitting of an autoimmune disease that is not only rare and elusive but even misleadingly named: scleroderma. Its Greek origins suggest hardening of the skin, and indeed the condition does cause stiffening of connective tissue. But the damage is not confined to the skin, Fischer said.

The more accurate term for the disease is systemic sclerosis (SSc), a term that reflects its potential to involve multiple organs throughout the body.

“’Scleroderma’ is a colloquial term,” said Fischer, who practices at UCHealth University of Colorado Hospital. “I’m not a skin doctor.”

Instead, Fischer focuses much of his attention on diagnosing and treating interstitial lung disease – scarring of the lungs that he said occurs in about three-quarters of the roughly 300,000 patients in the United States who have SSc. About a third of the SSc-associated deaths occur because of interstitial lung disease, he added.

Fischer uses a battery of tools, including six-minute walk tests, pulmonary function tests and, most importantly, high-resolution CT imaging to diagnose interstitial lung disease. He uses immunosuppressants, including Cytoxan and CellCept, to treat the 30 percent of SSc patients with progressive interstitial lung disease. These are the most serious cases, although all patients with interstitial lung disease must be monitored for evidence of progression.

“The care of scleroderma patients requires lots of evaluations for potential lung involvement,” Fischer said.

A grandmother out in a garden with her granddaughters. One is a baby in diapers. The other is about 4 years old and is looking at some pink flowers.
Joy Mathews with her granddaughters. Mathews was diagnosed with systemic sclerosis four years ago. She battles lung disease and other problems caused by the disease with the help of Dr. Fischer.

As a specialist in UCHealth’s Comprehensive Lung and Breathing Program, Fischer said he follows several hundred scleroderma patients from Colorado and many states in the Rocky Mountain region and the Pacific Northwest. That includes about 200 new patients each year, he added. The Scleroderma Foundation cites UCHealth as Colorado’s only center of excellence for treatment of the disease and named Fischer “Doctor of the Year” in 2014.

Difficult and dangerous opponent

The disease is vexing because it is difficult to recognize and can attack on many fronts and in many ways. For example, thickening and tightening of the skin is a frequent symptom, and a clue to diagnosing the disease. But Fischer noted that SSc does not always affect the skin, and not all patients who have thickened skin have SSc.

In addition, SSc can cause a host of joint, gastrointestinal, kidney and blood vessel problems, such as Raynaud’s phenomenon, which causes arteries to constrict, limiting blood flow, typically to the fingers and toes. Roughly 10 to 15 percent of SSc patients also have pulmonary hypertension, or elevated blood pressure in the pulmonary artery, which supplies the lungs. It can lead to right-side heart failure. As a result, Fischer works closely with providers in UCH’s Pulmonary Hypertension Clinic.

Simply put, there is no typical SSc patient, Fischer said. “It’s a complex autoimmune disease that often has varied organ involvement that drive prognosis. We need to be on top of where patients are individually.”

The complexity of the disease, he added, also means that “it takes a coordinated, collaborative, interdisciplinary network,” to help evaluate and manage these patients – which is the design of the Comprehensive Lung and Breathing Program.

For example, nearly all SSc patients have one or more GI problems because the disease scars the smooth muscles of the digestive system, from the esophagus to all regions of the gut, said UCHealth gastroenterologist Paul Menard-Katcher, MD. While he doesn’t treat the underlying SSc, Menard-Katcher manages a host of symptoms that result from it, including gastroesophageal reflux disease (GERD), diarrhea, and bloating.

“GI manifestations of scleroderma are nearly universal,” Menard-Katcher said. He added that GERD is also implicated in lung disease in SSc patients. That’s because GERD may cause SSc patients to aspirate stomach acids, which can scar the lungs, he said.

Attack without warning

Joy Mathews of Denver can speak to the mystery and pain of SSc. Mathews, 61, worked in the finance and high-tech industries and earned a PhD from the University of Colorado Boulder in business strategy and entrepreneurship in 2007. With that, she fulfilled a “lifelong dream” of teaching, filling a post in Boston for a year, followed by stints at Colorado School of Mines and CU Boulder.

Joy, the patient, sits on the ground, reading to her granddaughter, who is about 1-year-old.
Mathews with granddaughter Elle. The immunosuppressant drugs she takes to treat her lung disease require that Mathews be careful when she is around her grandchildren.

But on a trip to Tanzania in November 2013, things began to go wrong, seemingly without warning. Mathews suddenly became “violently ill,” with severe gastrointestinal problems and joint pain. She felt like her ribs were broken. Not surprisingly, she was “completely fatigued” throughout her stay.

After a miserable two weeks she returned to the States, but the illness continued. She lost 25 pounds and was chronically short of breath. Despite the weight loss, her hands were swollen. Physicians in Colorado ran tests, suspecting dengue fever or some other blood-borne disease, but didn’t come up with any answers.

In February 2014, Mathews took matters into her own hands. She flew to the Mayo Clinic in Rochester, Minnesota for tests. Twenty-four hours later, she had a diagnosis: scleroderma. The specialists there also diagnosed her interstitial lung disease. Having an answer gave her a small measure of relief, but her symptoms didn’t improve after she returned to Colorado for care from her rheumatologists. They got worse.

Desperate for help, she took another flight, this one to Johns Hopkins Hospital in Baltimore, which has a well-known scleroderma center. The physician she met there told her the biggest issue she had to worry about with scleroderma was her lungs. More surprisingly, she suggested seeing Dr. Aryeh Fischer for her care. Who is Aryeh Fischer, Mathews asked, unaware that a premier physician specializing in her disease was in her own backyard.

Health at home

In Fischer, Mathews said she found a sympathetic ear – and more.

“When I asked questions, he listened and gave thoughtful answers – some of which were, ‘We don’t know.’ With others, he said, ‘There is something we can do to treat that,’” she said. “I finally understood the things I’d been experiencing.”

Fischer stressed to Mathews that the effects of SSc were not skin-deep.

“The skin on my face and hands tightened a bit, but no one could look at me and say I had scleroderma based on my skin,” she said. “Dr. Fischer understood that my lungs were an issue, that my joints were an issue – and that’s scleroderma.”

While Mayo had diagnosed her interstitial lung disease, Fischer was the first to explicitly make the link for her between the lung disease and SSc. She knows now from speaking with others who have SSc that there are still many people who don’t know about that connection and continue to think of SSc purely as a skin disease.

Mathews’ problems didn’t disappear after she began seeing Fischer for treatment. For example, he slowed the progression of her lung disease with immunosuppressants and other treatments, allowing her to continue teaching for a time. However, in September 2016, she was getting ready to team-teach a course at CU-Boulder when she fell ill.

Dr. Aryeh Fischer, a UCHealth rheumatologist, sits at his desk.
Dr. Aryeh Fischer, a rheumatologist with UCHealth’’s Comprehensive Lung and Breathing Program, specializes in treating the interstitial lung disease that often accompanies systemic sclerosis, frequently referred to as scleroderma.

She had a blood draw sent to Fischer, who told her to get to the emergency department immediately. It turned out her white blood cell count was so low that she spent a week in isolation at UCH and went home with a mask to prevent infection. It turned out she had had a rare reaction to one of the medications for her SSc. Mathews reluctantly concluded the uncertainty of dealing with SSc meant she couldn’t live up to her commitment to teach, and she has not returned to the classroom.

Things had improved at the beginning of 2017, but then her lung disease worsened, requiring her to get chemotherapy infusions every four weeks, with a second treatment every six months.

“That was pretty miserable,” Mathews said. Fischer prescribed oral medications as an alternative, but after a couple of months of difficult side effects, including severe fatigue, he discontinued chemotherapy for a month to improve her quality of life. He’s now considering alternative treatments.

The biggest benefit of that decision: Getting off immunosuppressants means that Mathews will be able to enjoy her three granddaughters – including the last one, born Dec. 1 – in the new year.

Attack on multiple fronts

The battle isn’t confined to her lungs. A rare reaction to CellCept caused a bout with colitis that Fischer treated with medications. He prescribes a different chemotherapy infusion that helps ease her joint pain. Menard-Katcher works with Fischer to help Mathews manage her GI issues.

The ordeal has changed her life. The uncertainty of SSc not only means that she can’t teach, but also that she can’t always travel with her husband. The physical toll is enormous – something that isn’t readily apparent to others.

“People like me who don’t have a skin impact can walk out of the house and people think, ‘She’s healthy,’” Mathews said. “You don’t look ill particularly, but you know something is wrong. And people don’t understand what the fatigue is. It’s not just tired, it’s all day long. You can lie down, but you’re just exhausted.”

But Mathews has not succumbed to SSc. Rather, she fights back. She does pulmonary rehabilitation and has even begun swimming again, with the help of a floating beer cooler to protect her oxygen tank and tubing.

“It’s wonderful to swim again,” she said.

For his part, Fischer acknowledges that treating SSc has historically been a source of pessimism for providers and patients. But clinical trials of medications, research into biomarkers for the disease, and investigations of possible risk factors give him hope for the future.

“I’m not here to be falsely optimistic, but we can help people ease their suffering and navigate a tough illness,” he said. “That takes a village.”

Four years after her diagnosis, Mathews can also finally offer a note of optimism. “I feel light years better because of Dr. Fischer and I know he will treat any scleroderma ‘surprises’ in the future.”

About the author

Tyler Smith has been a health care writer, with a focus on hospitals, since 1996. He served as a writer and editor for the Marketing and Communications team at University of Colorado Hospital and UCHealth from 2007 to 2017. More recently, he has reported for and contributed stories to the University of Colorado School of Medicine, the Colorado School of Public Health and the Colorado Bioscience Association.