Systemic Scleroderma (Systemic Sclerosis): Symptoms, Organ Involvement, and Management

Systemic sclerosis (SSc) is a chronic autoimmune disease characterized by vasculopathy, immune dysregulation, and fibrosis of skin and internal organs. Two subsets: limited (CREST) and diffuse.

Clinical Manifestations by System

Skin

• Thickening/hardening (sclerodactyly, mask-like facies).
• Raynaud's phenomenon (95%): Triphasic color change (white→blue→red) triggered by cold/stress.
• Digital ulcers, calcinosis, telangiectasias.

Musculoskeletal

• Arthralgias, morning stiffness, contractures, myopathy.

Gastrointestinal (90% affected)

• Esophageal dysmotility → dysphagia, reflux, strictures.
• Gastroparesis, bacterial overgrowth, constipation/diarrhea, fecal incontinence.

Pulmonary (Leading cause of death)

• Interstitial lung disease (ILD): Fibrosis → restrictive pattern, cough, dyspnea.
• Pulmonary arterial hypertension (PAH): Especially limited SSc; dyspnea, syncope, right heart failure.

Cardiac

• Myocardial fibrosis → arrhythmias, diastolic dysfunction, pericarditis.

Renal

• Scleroderma renal crisis (SRC): Acute hypertension, oliguric AKI, microangiopathic hemolysis. Risk with diffuse SSc, steroids. ACE inhibitors are lifesaving.

General

• Fatigue, weight loss, sicca symptoms (Sjögren's overlap).

Diagnosis

• ACR/EULAR 2013 criteria (skin thickening, autoantibodies, nailfold capillaroscopy, organ involvement).
• Antibodies: ANA (95%), anti-centromere (limited), anti-Scl-70/topo I (diffuse, ILD risk), anti-RNAP III (diffuse, SRC risk).

Management

• Raynaud's: Calcium channel blockers, PDE5 inhibitors, prostanoids.
• ILD: Mycophenolate, cyclophosphamide, nintedanib.
• PAH: ERA, PDE5i, prostacyclins.
• SRC: ACEi immediate.
• Skin: Methotrexate, mycophenolate (early diffuse).
• GI: PPIs, prokinetics, antibiotics for SIBO.

Multidisciplinary care (rheumatology, pulmonology, cardiology, nephrology, GI) is essential.