Musculoskeletal

Systemic sclerosis (scleroderma)

Systemic sclerosis is a multisystem autoimmune disease combining small-vessel vasculopathy, immune activation and fibrosis; it can threaten the digits, lungs, pulmonary circulation, heart, kidneys and gut, so early specialist risk stratification and structured surveillance are essential.

In a nutshell

Systemic sclerosis combines vasculopathy, immune activation and fibrosis. Diagnose and risk-stratify with the skin phenotype, antibodies and specialist assessment, then screen all people at diagnosis for ILD with HRCT and PFTs and annually for PAH and cardiac involvement. Remember three urgent pathways: critical digital ischaemia, scleroderma renal crisis needing prompt ACE inhibition, and progressive cardiopulmonary disease needing specialist referral.

Classic presentation

A person with Raynaud phenomenon develops puffy then tight fingers, sclerodactyly, telangiectasia, digital ulcers, reflux or dysphagia, with abnormal capillaroscopy and a systemic-sclerosis-associated antibody.

Key points

Limited and diffuse cutaneous subsets guide risk but neither is benign and complications can occur in all subsets.
Anti-centromere, anti-topoisomerase I and anti-RNA-polymerase III help risk-stratify; none replaces surveillance.
Baseline HRCT and PFTs are recommended for all people with systemic sclerosis to screen for ILD.
Annual PAH screening uses PFTs, echocardiography, NT-proBNP and an appropriate risk algorithm; suspected PAH needs a specialist centre.
Scleroderma renal crisis is new hypertension with AKI or thrombotic microangiopathy: start an ACE inhibitor promptly and minimise adult glucocorticoids.
Critical digital ischaemia is an emergency; refractory Raynaud or digital ulcers need specialist vasodilator, wound and vascular pathways.
Do not give drug doses from memory: use current BNF, specialist policies and monitoring requirements.

First-line investigation

Validated clinical and antibody risk assessment, nailfold capillaroscopy, baseline HRCT and PFTs, renal and blood-pressure monitoring, and annual PAH and cardiac screening.

Management

Recognise organ emergencies

Escalate critical digital ischaemia, new tissue necrosis, suspected renal crisis, hypoxia, syncope, chest pain, arrhythmia or rapidly progressive breathlessness urgently.^1,5,4

Diagnose and risk-stratify

Use the clinical phenotype, validated classification criteria, systemic-sclerosis antibodies and capillaroscopy to stratify organ risk, then involve a specialist multidisciplinary team.^1,3

Screen lungs, pulmonary circulation, heart and kidneys

Perform baseline HRCT and PFTs for ILD, annual PAH and cardiac screening, and regular blood-pressure, renal and urine monitoring.^1,3

Protect digits, skin, gut and function

Use cold avoidance, vasodilator and wound pathways, emollients, GI symptom control, nutrition, physiotherapy, occupational therapy and smoking cessation.^1,2,5

Treat organ disease through specialists

Use ACE inhibition for diagnosed renal crisis, specialist immunomodulation or antifibrotic therapy for progressive ILD, and designated-centre treatment for pulmonary hypertension.^1,6,4

Plan pregnancy, cancer risk and long-term surveillance

Review cardiopulmonary and renal status, medicines, blood pressure, digital disease, GI nutrition and function; arrange risk-stratified pregnancy and malignancy planning.^1,2,4

Exam traps

Limited cutaneous disease is not low risk: pulmonary hypertension can occur late and organ disease can occur in either subset.
A normal echocardiogram or absence of breathlessness does not replace annual PAH screening.
New hypertension and AKI in systemic sclerosis is renal crisis until assessed; ACE inhibition is urgent.
Moderate or high-dose glucocorticoids can precipitate renal crisis in adults and should be minimised.
SSc-ILD requires baseline HRCT and PFTs; FVC alone can miss disease and gas transfer matters.
Digital necrosis or critical ischaemia needs urgent assessment, not routine outpatient Raynaud advice.

Illustrations

Acrosclerotic digital changes in systemic sclerosisClose clinical photograph showing taut shiny sclerodactyly, scaling and focal digital tissue injury in systemic sclerosis. Use consented or openly licensed educational imagery and avoid implying that every person develops ulceration.Frank Breuckmann, Thilo Gambichler, Peter Altmeyer and Alexander Kreuter, Wikimedia Commons · CC-BY-2.0

Key sources

This page is exam revision material, not medical advice, and must not be used for patient care. Always check drug doses against the BNF and current guidance. Full disclaimer.