From the Guidelines
Systemic sclerosis (SSc) presents with a diverse range of clinical features affecting multiple organ systems, including skin thickening and hardening, Raynaud's phenomenon, gastrointestinal involvement, pulmonary complications, cardiac involvement, renal crisis, musculoskeletal symptoms, and other manifestations such as sicca symptoms, calcinosis, and telangiectasias 1.
Clinical Features
The hallmark manifestation of SSc is skin thickening and hardening, which typically begins in the fingers (sclerodactyly) and hands before potentially extending to the face, trunk, and proximal extremities.
- Raynaud's phenomenon, characterized by episodic color changes in fingers and toes triggered by cold or stress, occurs in over 95% of patients and often precedes other symptoms by years.
- Gastrointestinal involvement manifests as dysphagia, reflux, early satiety, and altered bowel habits due to esophageal dysmotility and intestinal fibrosis.
- Pulmonary complications include interstitial lung disease and pulmonary arterial hypertension, which may cause progressive dyspnea and are leading causes of mortality.
- Cardiac involvement presents as arrhythmias, conduction defects, or myocardial fibrosis.
- Renal crisis, characterized by malignant hypertension and acute kidney injury, is less common but potentially life-threatening.
- Musculoskeletal symptoms include arthralgia, myalgia, and tendon friction rubs.
Disease Variants
These manifestations result from excessive collagen deposition and vascular abnormalities due to immune dysregulation, with features varying between limited cutaneous scleroderma (primarily distal extremities and face) and diffuse cutaneous scleroderma (more extensive skin involvement and greater risk of internal organ disease) 1.
Management and Prognosis
The management of patients with SSc includes non-pharmacological and pharmacological interventions, with the goal of improving morbidity, mortality, and quality of life 1.
- The high heterogeneity in the presence and severity of skin and visceral involvement is a major challenge in clinical management and trial design 1.
- The only accepted clinical subsets rely on extent of skin involvement, supported by specific antibodies and reflect relative risk of internal organ involvement 1. Overall, the clinical features of SSc are complex and multifaceted, requiring a comprehensive approach to management and treatment to improve patient outcomes 1.
From the Research
Clinical Features of Systemic Sclerosis (SSc)
The clinical features of systemic sclerosis (SSc) can be summarized as follows:
- SSc is a complex systemic autoimmune disorder characterized by inflammation, vasculopathy, and excessive fibrosis of the skin and multiple internal organs 2
- Common clinical features include Raynaud phenomenon and skin thickening, often with calcinosis and telangiectasia 3
- SSc can affect various internal organs, including the lungs, gastrointestinal system, kidneys, and heart 4
- Pulmonary and cardiac disease are the leading causes of death in SSc patients 4
- There are two types of SSc: limited cutaneous and diffuse cutaneous, each with different clinical, systemic, and serologic findings 4
- Autoantibodies can be used to predict phenotype and internal organ involvement in SSc 4
- SSc is a progressive autoimmune disorder that mainly affects the skin, with other clinical manifestations including renal, pulmonary, cardiovascular, and gastrointestinal tract involvements 5
Organ Involvement in SSc
Organ involvement in SSc can include:
- Lung fibrosis 2
- Pulmonary artery hypertension (PAH) 2
- Scleroderma renal crisis (SRC) 2
- Gastrointestinal system involvement 4
- Kidney involvement 4
- Heart involvement 4
Disease Classification and Biomarkers
- SSc can be classified into two subtypes based on skin involvement: limited cutaneous SSc (lSSc) and diffuse cutaneous SSc (dSSc) 5
- Circulating biomarkers can be crucial to define the diagnosis, predict the prognosis, and monitor the clinical course of SSc 5
- Biomarkers assessment aids in the evaluation of disease progression and disease outcome 5