Expanding expertise at the MUSC Scleroderma Center of Excellence: Q&A with Dr. DeAnna Baker Frost

DeAnna Baker Frost, M.D., Ph.D., is an assistant professor in the Division of Rheumatology & Immunology with a clinical interest in autoimmune diseases and fibrosis. Along with her colleagues, Baker Frost recently published findings from her NIH-funded study on the link between estradiol levels and severe disease in scleroderma in “Arthritis Research & Therapy”.  As a member of the MUSC Scleroderma Research Team, Baker Frost is continuing her efforts to improve patient lives through compassionate patient care and innovative research.

She shares her insights into the diagnosis, treatment, and future of scleroderma - a rare autoimmune connective tissue disease that disproportionately affects women and underserved minorities, often profoundly affecting quality of life and survival.

Scleroderma is a rare and often misdiagnosed condition, why do patients slip under the radar?

Because there are smaller numbers of patients that have this disease, many physicians, including rheumatologists, have not cared for patients with scleroderma. Therefore, they may not be as familiar with the criteria for diagnosis.

Fortunately, there are several centers throughout the country, deemed Scleroderma Centers of Excellence, that specialize in research surrounding and caring for scleroderma patients. MUSC is one of those centers. If there is a concern that a patient may have scleroderma, they can be referred to one of these centers for evaluation.

Time to diagnosis is improving, but there are still patients that go undiagnosed for several years. Once diagnosed, symptom management can begin. This area of treatment is improving as well, but more treatment options are needed.

What role does estradiol play in the etiology of scleroderma?

Estradiol is one of the forms of estrogen that naturally occurs in our body. Males and post-menopausal females typically have lower levels of estradiol. However, we found that in scleroderma patients, men and post-menopausal females have higher levels of estradiol compared to those without scleroderma.

Estradiol can also promote fibrosis, which is one of the hallmarks of scleroderma. Therefore, we are concerned that these high levels of estradiol are contributing to fibrosis. We are completing other experiments to better understand how these high levels influence the severity of scleroderma in patients. But it is possible that using medications that prevent high levels of estradiol may be a treatment option for patients.

Where do you see the diagnosis and treatment of scleroderma heading in the future?

This is an exciting time for scleroderma research. There are researchers around the world who are studying and applying sophisticated techniques to better understand this disease. There are also more collaborations with other specialists so that expertise in multiple areas can combine to bring a unique perspective to studying scleroderma.

The current thought is that genetics does play a role in the development-and possibly the severity-in several autoimmune diseases, including scleroderma, but we need more research in this area. I believe this will become more of a research focus. With increased resources and collaborations dedicated to scleroderma research, the hope is that one day this disease can be cured.

What should referring physicians know about the comprehensive care provided at the Scleroderma Center of Excellence at MUSC?

Because scleroderma can affect multiple organs, many specialists are needed to address the specific needs of these patients. We are fortunate at MUSC to have a team of specialists to care for our scleroderma patients. They are familiar with the complications that occur with this rare disease and are well-versed with the current research and treatment options.

MUSC also has world-renowned researchers and clinicians that have dedicated the majority of their training to understand the specifics of scleroderma. We often work together with referring physicians so that all team members remain informed of the patient's needs and progress. Therefore, we are confident that we can provide quality and comprehensive care for scleroderma patients.

To refer a patient, call 843-876-0615 or download the Scleroderma patient referral form.

About

The MUSC Division of Rheumatology and Immunology is home to the only comprehensive scleroderma center in the southeastern US and enjoys an internationally renowned reputation as a result of its decades long focus on comprehensive clinical care, innovative research, postgraduate education/training, and health disparities research.

As part of an academic health care center, MUSC is one of only a handful of programs in the world to excel in all the three facets of comprehensive scleroderma care including clinical care, translational research, and education. In 2019, MUSC's Scleroderma Center saw nearly 600 scleroderma patients-including 65 new patients referred for consultation and continuing care.

Innovative research conducted at MUSC has provided important insights into the regulation of collagen gene transcription and synthesis, the role of microvascular disease in scleroderma and Raynaud's phenomenon, and the pathophysiology of scleroderma lung disease. Current research is focused on the development of novel anti-fibrotic drugs for skin and lung fibrosis, as well as on the genetic and epigenetic aspects of scleroderma.