A comprehensive framework for navigating patient care in systemic sclerosis: A global response to the need for improving the practice of diagnostic and preventive strategies in SSc

Abstract

Systemic sclerosis (SSc), the most lethal of rheumatologic conditions, is the cause of death in >50% of SSc cases, led by pulmonary fibrosis followed by pulmonary hypertension and then scleroderma renal crisis (SRC). Multiple other preventable and treatable SSc-related vascular, cardiac, gastrointestinal, nutritional and musculoskeletal complications can lead to disability and death.

Vascular injury with subsequent inflammation transforming to irreversible fibrosis and permanent damage characterizes SSc. Organ involvement is often present early in the disease course of SSc, but requires careful history-taking and vigilance in screening to detect. Inflammation is potentially reversible provided that treatment intensity quells inflammation and other immune mechanisms. In any SSc phenotype, opportunities for early treatment are prone to be under-utilized, especially in slowly progressive phenotypes that, in contrast to severe progressive ILD, indolently accrue irreversible organ damage resulting in later-stage life-limiting complications such as pulmonary hypertension, cardiac involvement, and malnutrition.

A single SSc patient visit often requires much more physician and staff time, organization, vigilance, and direct management for multiple organ systems compared to other rheumatic or pulmonary diseases. Efficiency and efficacy of comprehensive SSc care enlists trending of symptoms and bio-data. Financial sustainability of SSc care benefits from understanding insurance reimbursement and health system allocation policies for complex patients. Sharing care between recognised SSc centers and local cardiology/pulmonary/rheumatology/gastroenterology colleagues may prevent complications and poor outcomes, while providing support to local specialists.

As scleroderma specialists, we offer a practical framework with tools to facilitate an optimal, comprehensive and sustainable approach to SSc care. Improved health outcomes in SSc relies upon recogntion, management and, to the extent possible, prevention of SSc and treatment-related complications.

Introduction

Systemic sclerosis (SSc), the most lethal of rheumatologic conditions, is the direct cause of death in >50% of SSc cases, followed by pulmonary fibrosis, pulmonary hypertension, and scleroderma renal crisis (SRC). Multiple other preventable and treatable SSc-related vascular, cardiac, gastrointestinal, nutritional, and musculoskeletal complications also lead to disability and death.

SSc is characterized by vascular injury and disrepair that incites systemic progressive inflammatory transformation to fibrosis at widely variable rates and intensities. Inflammation is a reversible phenomenon provided the intensity of treatment matches that of the inflammation. End-stage fibrosis is permanent and irreversible. Organ involvement is present early in the SSc disease course, requiring ongoing screening and careful patient questioning to detect. Reduction of disability and mortality hinges on the prevention of vascular and fibrotic damage, which is directly dependent upon early recognition of active disease, even in the indolent disease phenotypes, with initiation of appropriate treatment to prevent fibrotic transformation.

Delayed diagnosis is common in autoimmune diseases and disproportionately frequent in those of African and Hispanic descent, for whom these diseases tend to be more severe and deadly [[1], [2], [3], [4], [5], [6]]. Importantly, slowly progressive phenotypes indolently accruing irreversible structural changes and organ damage are less prone to receive treatment, resulting in end-stage SSc complications such as pulmonary hypertension, cardiac involvement, and malnutrition. Diagnostic delays, misdiagnoses, and complication oversights are likely underpinned by preferential reliance on laboratory data and a clinical setting that is hurried which impair authentic empathetic listening, careful history-taking, and physical exam performance.

Efficiency and efficacy of SSc care that meets the health-related quality of life (HRQoL) and survival needs of patients require trending of symptoms and over time; and also requires multiple streams of management that are sustained by understanding visit reimbursement policies. A single SSc patient visit commonly involves extensive chart review, investigation, coordination and direct management for multiple organ systems, and exacting physician and staff time and effort beyond that of other diseases. Sharing care between scleroderma centers and local specialists provides robust patient-centered management and patient skill-building for self-management of this complex disorder.

As scleroderma specialists, we offer an abbreviated reference manual and practical framework, that we hope supports clinicians and patients, with informational summaries on symptoms, manifestations, and complications with tools and templates for screening, assessment, documentation, risk stratification, counselling, and anticipatory guidance, and discussions surrounding clinician sustainability.