Unmet Needs in Systemic Sclerosis Understanding and Treatment: the Knowledge Gaps from a Scientist’s, Clinician’s, and Patient’s Perspective

Abstract

Systemic sclerosis (SSc) is a highly heterogeneous disease caused by a complex molecular circuitry. For decades, clinical and molecular research focused on understanding the primary process of fibrosis. More recently, the inflammatory, immunological and vascular components that precede the actual onset of fibrosis, have become a matter of increasing scientific scrutiny. As a consequence, the field has started to realize that the early identification of this syndrome is crucial for optimal clinical care as well as for understanding its pathology. The cause of SSc cannot be appointed to a single molecular pathway but to a multitude of molecular aberrances in a spatial and temporal matter and on the backbone of the patient’s genetic predisposition. These alterations underlie the plethora of signs and symptoms which patients experience and clinicians look for, ultimately culminating in fibrotic features. To solve this complexity, a close interaction among the patient throughout its “journey,” the clinician through its clinical assessments and the researcher with its experimental design, seems to be required. In this review, we aimed to highlight the features of SSc through the eyes of these three professionals, all with their own expertise and opinions. With this unique setup, we underscore the importance of investigating the role of environmental factors in the onset and perpetuation of SSc, of focusing on the earliest signs and symptoms preceding fibrosis and on the application of holistic research approaches that include a multitude of potential molecular alterations in time in an unbiased fashion, in the search for a patient-tailored cure.

<p>Interstitial Lung Disease in Systemic Sclerosis: Focus on Early Detection and Intervention</p>

“…Due to the complexity and heterogeneous nature of SSc-ILD, treatment approaches should be tailored to the individual, with consideration of disease stage and organ-specific complications 98. While early treatment of ILD in SSc is of high importance to reduce the rate of lung deterioration and mortality,13 not every patient with SSc-ILD requires treatment for their ILD ─ treatment is often reserved for patients with progressive disease, ILD-related clinical impairment, or those patients at high risk for ILD progression.…”

Patient and Physician Perspectives on Systemic Sclerosis–Associated Interstitial Lung Disease

“…Such patients may believe, wrongly, that a change in their lifestyle could reduce disease progression and reverse the disease. 3,49 Moreover, poor understanding of the disease is likely to reduce patients' adherence to prescribed treatment; patients who do not understand their disease may be less likely to perceive the need to take their medication. 54 These are important reasons for helping patients to understand their condition and the available treatments.…”

“…The 2 most common pulmonary manifestations are pulmonary hypertension and interstitial lung disease (ILD), accounting for ~60% of SSc-associated mortality. 1,[3][4][5][6] In this review, we will focus on the diagnosis, treatment, and clinician and patient perspectives on ILD.…”

Challenges in physician-patient communication for optimal management of systemic sclerosis-associated interstitial lung disease: a discourse analysis

“…Systemic sclerosis (SSc) is a rare but severe disease in terms of the burden of symptoms on the patient, the unpredictability of prognosis and the risk of premature death [ 1 – 3 ]. SSc typically affects multiple organs, including the lungs, where interstitial lung disease (ILD) and pulmonary arterial hypertension (PAH) may develop.…”