Advancing the Care of Patients with Scleroderma

Elana J. Bernstein, MD, MSc, Florence Irving Assistant Professor of Medicine in the Division of Rheumatology at Columbia University Vagelos College of

Physicians and Surgeons, is a leading researcher on the subject of scleroderma, a rare disease that causes hardening and tightening of the skin and can affect the internal organs, blood vessels, and digestive track. As both a clinician and a scientist, Dr. Bernstein has seen the dramatic effects that scleroderma can have on patients’ lives, particularly with respect to lung disease. Since patients with scleroderma are at risk for developing a type of lung condition called interstitial lung disease, Dr. Bernstein has led the way on two important research projects related to this serious complication.

The first project focuses on the topic of how and when to screen patients with scleroderma for interstitial lung disease, also known as ILD. While patients with scleroderma routinely undergo pulmonary function testing each year, there is a lack of agreement in the rheumatology community as to if patients with scleroderma should also undergo baseline computed tomography (CT) imaging of the lungs at the time of diagnosis. Indeed, only about half of rheumatologists report that they routinely order this test for their patients with scleroderma when they are diagnosed. This is despite the fact that CT imaging of the lungs may be able to detect evidence of ILD even when it is not readily apparent by symptoms or physical exam.

Dr. Bernstein and colleagues are thus conducting a research study in which 100 patients with scleroderma will undergo baseline CT chest imaging and then be followed over the course of a year. Using pulmonary function testing, patients will be evaluated for a decline in a marker called FVC, which helps provide insight into lung function. The goal is to separate patients into different groups based on the absence or presence of symptoms and signs of lung disease and the presence of ILD on imaging. Dr. Bernstein and colleagues will then be able to evaluate which patients experience declines in their lung function and see if these changes differ between groups of patients. Data from this study will help inform doctors about the potential utility of screening for ILD even in asymptomatic patients with scleroderma.

The second project being led by Dr. Bernstein has to do with changes in blood circulation in patients with scleroderma, which is known to have significant effects on blood vessels. Some of these blood vessel changes are apparent to the naked eye—for instance, patients can develop visible blood vessel changes of the skin called telangiectasias on many parts of the body or may experience color change in the fingers and toes in the cold or with stress (a phenomenon called Raynaud’s). The blood vessel changes in the lungs—and the effects of these changes on lung function—are not as easy to evaluate at present.

With this in mind, Dr. Bernstein and colleagues are using an imaging technique called DECT to evaluate the vasculature of the lungs in patients with and without ILD. By evaluating how well blood vessels are perfused in the lungs of patients with scleroderma while they perform pulmonary function testing, Dr. Bernstein hopes to demonstrate if there are differences between patients with and without ILD and if this may also correlate with other markers, such as looking at abnormalities in the tiny blood vessels next to the nailbeds in the fingers called nailfold capillaries. This project will hopefully shed light on the mechanisms by which blood circulation in the lungs may impact lung damage and function and ultimately help to lead to additional treatments for this aspect of the disease.

Through these and other projects, Dr. Bernstein is committed to improving the lives of patients across the country and around the world who are living with scleroderma. The task is large, but the key to progress is to take things one step—and one patient—at a time.