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Systemic Sclerosis (SSC, Scleroderma)

Systemic sclerosis is a rare and potentially devastating connective tissue disease characterized by autoimmunity, vasculopathy, and fibrosis. Almost all patients with SSc have skin thickening, Raynaud’s phenomenon, and esophageal reflux or dysmotility. More than 90% are antinuclear antibody (ANA) positive. Lung involvement – either with interstitial lung disease or pulmonary arterial hypertension (PAH) is the leading cause of mortality in scleroderma.

  • It is important to distinguish localized scleroderma (e.g., morphea) from the systemic form (systemic sclerosis) because localized disease does not have internal or systemic manifestations.

  • Nearly all patients with systemic sclerosis develop Raynaud’s phenomenon and nearly all have gastroesophageal reflux disease.

  • Distinguishing the limited form versus diffuse form of systemic sclerosis and identifying disease-specific autoantibodies is important because these factors often impact the pace of the disease and pattern of internal organ involvement.

  • Because interstitial lung disease and pulmonary arterial hypertension are the main cause of mortality, vigilant screening assessments for their presence are indicated in all patients with systemic sclerosis because early detection and intervention strategies may favorably impact the natural history of the disease.

  • Scleroderma renal crisis, often heralded by an acute rise in blood pressure, is associated with early diffuse systemic sclerosis, and requires rapid recognition and initiation of angiotensin-converting enzyme inhibitor therapy.

Classification scheme of scleroderma:

  • Localized scleroderma: cutaneous changes consisting of dermal fibrosis without internal organ involvement. The two types of localized scleroderma are:

    • Morphea: single or multiple plaques commonly on the trunk.

    • Linear scleroderma: bands of skin thickening commonly on the legs or arms but sometimes on the face (en coup de sabre) that typically follow a linear path

  • Generalized scleroderma = systemic sclerosis

    • Limited cutaneous systemic sclerosis (lcSSc, limited scleroderma): patients with lcSSc have skin thickening limited to the neck, face, or distal aspects of upper and lower extremities (below the elbows and knees).

    • Diffuse cutaneous systemic sclerosis (dcSSc, diffuse scleroderma): patients with diffuse scleroderma have skin thickening proximal to the elbows, knees or trunk, excluding the face and neck. In contrast to limited scleroderma, patients with dcSSc usually present relatively acutely

    • Systemic sclerosis sine scleroderma: patients with internal manifestations of SSc, are characterized as having systemic sclerosis sine scleroderma (ssSSc). Examples of ssSSc include patients with

      Raynaud’s phenomenon, digital edema, ILD, and a positive anti-Scl-70 antibody.

      Raynaud’s phenomenon, GERD, PAH, and a positive anticentromere antibody.

      Raynaud’s phenomenon, renal crisis, and a positive anti-RNA polymerase III antibody.

CREST is a term that refers to a subgroup of patients with lcSSc. The term is derived from the clinical manifestations of:

CCalcinosis.

RRaynaud’s phenomenon.

E—Esophageal dysmotility.

SSclerodactyly.

TTelangiectasia.

The New American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) Classification Criteria for Systemic Sclerosis:

www.rheumatology.org Classification Criteria slides.pdf

www.rheumtutor.com 2013 ACR EULAR classification criteria for scleroderma



Pubmed:

Performance of the new ACR/EULAR classification criteria for systemic sclerosis in clinical practice PMID: 25762528

Update in pulmonary hypertension associated with connective tissue diseases - a systematic literature review PMID: 18814096

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