AKT · Musculoskeletal/Connective tissue diseaselow yield

Systemic sclerosis (scleroderma)

Autoimmune connective tissue disease — fibrosis + vasculopathy + autoantibodies

Overview

An autoimmune connective tissue disease causing skin and internal-organ fibrosis with a small-vessel vasculopathy. Limited cutaneous SS (formerly CREST — Calcinosis, Raynaud's, oEsophageal dysmotility, Sclerodactyly, Telangiectasia; anti-centromere) has a more indolent course but risks pulmonary hypertension; diffuse cutaneous SS (anti-Scl-70/topoisomerase) carries the risk of interstitial lung disease and scleroderma renal crisis. Raynaud's is almost universal.

Recognise

Raynaud's phenomenon (often the first feature), skin tightening (sclerodactyly, beaked nose, microstomia), telangiectasia, calcinosis, digital ulcers/pitting
Limited (CREST, anti-centromere) → pulmonary arterial hypertension risk; Diffuse (anti-Scl-70) → ILD + scleroderma renal crisis risk
Oesophageal dysmotility (reflux/dysphagia); abnormal nailfold capillaries

Red flags

Scleroderma renal crisis: accelerated hypertension + acute kidney injury → urgent ACE INHIBITOR (the treatment of choice)
Interstitial lung disease / pulmonary hypertension → screen and treat early (prognosis-determining)

Differentials & how to tell them apart

Primary Raynaud'sbenign, symmetrical, normal capillaries/antibodies — no skin or organ fibrosis

Mixed connective tissue diseaseanti-U1-RNP, overlap with SLE/myositis

Morphoea / eosinophilic fasciitislocalised skin fibrosis without systemic/organ involvement

Investigations

Autoantibodies (anti-centromere = limited; anti-Scl-70/topoisomerase + anti-RNA-polymerase III = diffuse/renal crisis); nailfold capillaroscopy; screen organs — PFTs + HRCT (ILD), echo/right-heart catheter (pulmonary hypertension), BP + renal function (renal crisis), barium/manometry (oesophagus).

Management

Organ-directed: nifedipine for Raynaud's; ACE inhibitor for renal crisis; immunosuppression for ILD

1Classify limited (anti-centromere) vs diffuse (anti-Scl-70) and screen the organs (lungs, heart, kidney, oesophagus). Treat Raynaud's (nifedipine) and reflux (PPI).Gate: Scleroderma renal crisis (accelerated hypertension + AKI) → ACE INHIBITOR is the treatment of choice — give it even as the creatinine rises; never withhold it here.
2Treat organ disease: immunosuppression for ILD, pulmonary-hypertension therapy, iloprost/PDE5 inhibitors for digital ischaemia; specialist multidisciplinary care.

Raynaud's/digital disease: nifedipine; iloprost/PDE5 inhibitors for severe ischaemia — plus keep warm, stop smoking

Scleroderma renal crisis: ACE INHIBITOR — the treatment of choice — controls the crisis even as creatinine rises; do not withhold

ILD: immunosuppression (mycophenolate/cyclophosphamide) ± antifibrotic — organ-based therapy

Pulmonary hypertension therapy; PPI for reflux — specialist-led; treat oesophageal disease

Key points

Raynaud's + skin tightening + telangiectasia ± calcinosis = systemic sclerosis. Limited (CREST, anti-centromere) → pulmonary hypertension; diffuse (anti-Scl-70) → ILD + renal crisis. Scleroderma renal crisis → ACE INHIBITOR (give despite rising creatinine).

Monitor & prognosis

Annual PFTs/echo (ILD/PH), BP + renal function (renal crisis), skin score.

Limited disease more indolent; diffuse disease's lung/renal involvement drives mortality.

Source: BSR systemic sclerosis; cross-ref cardiovascular (Raynaud's)