Advances in Scleroderma Treatment: FAQ
Jun 15, 2021 Cedars-Sinai Staff
Scleroderma is a rare and debilitating disease—complex and challenging to live with and to treat. This autoimmune condition causes the body to make too much collagen, which results in scarring on the skin and internal organs, as well as narrowing of blood vessels. Women are four times more likely than men to be diagnosed with scleroderma.
Cedars-Sinai's experts are on the cutting edge of research into causes of and treatments for scleroderma, for which there is no cure. We spoke with Dr. Francesco Boin, director of the division of Rheumatology and the Scleroderma Center at Kao Autoimmunity Institute, about his expert work into improving the lives of patients with the disease.
What causes scleroderma?
Dr. Francesco Boin: Scleroderma, like all autoimmune conditions, happens when the immune system goes haywire and starts attacking its own body.
Abnormalities in the DNA sequence of the genes a person is born with may be in part responsible for driving the development of scleroderma. We're working to identify these key gene mutations. But just as critically, the environment plays a major role in exploiting these "genetic weaknesses."
"Our role as physicians is not only to treat it biologically, but to pair up with the patient on the psychological challenge of having to deal with this the rest of one's life."
We need to understand what truly ignites the disease. Which environmental exposures—the water you drink, the food you eat, the sun, pollutants, infections—change the way your DNA functions? This is an important area of research.
There is also emerging evidence that, in some cases, the abnormal immune response triggered by an underlying cancer may be the initiating factor for scleroderma. We're trying to understand these mechanisms in a backwards way: What's the difference in the DNA sequence of a person with autoimmunity, what could've caused those changes and what hidden event may have occurred to start the disease?
How does scleroderma affect a person's body?
FB: Scleroderma occurs on a spectrum. While in some cases the clinical manifestations are severe and rapidly progressing, other cases can be mild. There are two main aspects of the disease—scarring on the skin and the internal organs, and narrowing of the blood vessels—which can lead to irreversible organ damage.
In most patients, scleroderma starts with episodes of sudden loss of blood flow to the hands, which is called Raynaud's phenomenon. In some cases, this is the only symptom experienced by a patient for a long time. Often, the next symptoms are scarring and tightening of the skin, which can constrict movements, cause joint paint and cause significant changes in one's appearance.
Scarring of the lungs and esophagus can also make it hard to swallow and breathe. In a small number of cases, kidney involvement can cause sudden renal failure.
How is scleroderma treated?
FB: Treatment can involve medications to suppress the immune system and ease symptoms such as pain and itching. Interventions also aim to improve blood flow to the fingers and other vital organs.
Cedars-Sinai has built a Scleroderma Center precisely with the goal to provide the best and most advanced care to scleroderma patients. Our approach is to tailor the treatment plan around the specific needs and complications every individual patient has. We are one of the few centers in the U.S. with the ability to provide a potent outpatient intravenous therapy to treat patients with severe Raynaud’s phenomenon and digital ischemia. This therapeutic approach is aimed at maximizing blood flow and accelerating tissue healing.
A clinical trial with a similar drug called iloprost has been recently completed. If the results of the phase III clinical trial demonstrate the medication is safe and effective, we are hoping this drug will gain FDA approval and may become available for all scleroderma patients across the U.S.
"It takes a village, and Cedars-Sinai offers an environment of clinical and scientific excellence to deliver the most advanced patient-centered care."
How does the disease affect patients' lives?
FB: The burden of this disease on patients and their families is significant. Our role as physicians is not only to treat it biologically, but to pair up with the patient on the psychological challenge of having to deal with this the rest of one's life.
People can lose the use of their hands and have a hard time with normal daily activities. Changes to a person's appearance can be damaging to social lives. I've seen spouses become a patient's greatest supporter and families gather around their loved ones, but unfortunately I've seen people become isolated and abandoned as well.
It's important that we not only update patients on research and clinical advances, but give them the opportunity to connect with other patients who understand what they're going through. I'm looking forward to organizing these events, which are really important to our patients.
What is the importance of a dedicated scleroderma program?
FB: Scleroderma is not a disease affecting uniformly one organ—it cannot be tackled with a "one problem, one answer" approach. To effectively manage scleroderma, it is critical to assess, at the time of diagnosis, which internal organs are affected and the extent of their damage.
Every patient is unique and requires tailored treatment. This approach requires a dedicated comprehensive program and a network of specialty physicians. Cedars-Sinai is one of the few centers in the country with highly specialized pulmonologists, cardiologists, gastroenterologists, plastic surgeons, dermatologists, nurses, patient coordinators and research teams working together to deliver the best possible care to our patients.
It takes a village, and Cedars-Sinai offers an environment of clinical and scientific excellence to deliver the most advanced patient-centered care.