Scleroderma / Systemic Sclerosis

Scleroderma is an uncommon condition in which excessive collagen deposition causes fibrosis/thickening of the skin. The localised form is morphoea; the systemic form is systemic sclerosis, which has two variants defined by the extent of skin involvement:

• Limited cutaneous systemic sclerosis — often associated with calcinosis, Raynaud phenomenon, oesophageal dysmotility, sclerodactyly, telangiectasia (previously the “CREST” acronym) and a positive anti-centromere antibody.
• Diffuse cutaneous systemic sclerosis — typically more rapidly progressive, with more severe systemic involvement (interstitial lung disease, scleroderma renal crisis); associated with anti-Scl-70 (topoisomerase I) or anti-RNA-polymerase-III antibodies.

Males have a poorer outcome. Average survival from first symptom is 30–40 years for limited disease and 15–20 years for diffuse disease. Cardiopulmonary involvement is the leading cause of death. Malignancy is twice as common as in the general population, particularly with the RNA polymerase III antibody.

Management

Directed at clinical features, via a multidisciplinary team (specialist, physiotherapy, other allied health), against the British Society for Rheumatology’s 2024 systemic sclerosis guideline.

• Arthralgia/myalgia/arthritis and Raynaud/digital ischaemia: managed as per SLE.
• Skin fibrosis: regular emollients (e.g. sorbolene) and avoiding soaps. In the scleroedematous (pruritic, swollen, oedematous) stage: oral antihistamines for pruritus; low-dose prednisolone (<15mg daily — higher doses risk precipitating scleroderma renal crisis); csDMARDs (cyclophosphamide, mycophenolate, methotrexate); range-of-motion exercise (hand, facial, general — gym programs, hydrotherapy, home exercise); orthotist/podiatrist referral (custom footwear/orthoses can relieve pain and limit ulcer progression).
• Digital calcinosis: recurrent surgical excision of deposits may be needed.
• Sicca symptoms (dry eyes/mouth from mucosal dryness): sunglasses outdoors, avoid dry/heated air and cigarette smoke, avoid anticholinergic drugs (TCAs, antiparkinsonian agents), maintain oral hydration and dental hygiene. Ocular lubricants for dry eyes; sprays/mouthwashes/gels/artificial saliva for dry mouth (often poorly tolerated); vaginal lubricant jelly (or intravaginal oestrogen if postmenopausal) for vaginal dryness.
• Fatigue: hydroxychloroquine.
• Oesophageal dysmotility/GORD: very common. Non-pharmacological measures (elevate head of bed, soft food/small meals, drink liquids with meals, avoid smoking/alcohol/opioids) plus PPI; gastroenterology/general surgery referral for stricture dilation or antireflux surgery in severe reflux.
• Gastric/small bowel involvement: domperidone for nausea/bloating from delayed gastric emptying; loperamide + avoiding irritant foods for diarrhoea; endoscopic argon laser for bleeding vascular ectasias.
• Large bowel involvement: constipation, faecal impaction/overflow, incontinence, rectal prolapse — regular laxatives/enemas; biofeedback, anal plugs or sacral nerve stimulation in severe cases; rectal prolapse needs surgical repair.
• Interstitial lung disease: together with pulmonary arterial hypertension, the commonest cause of death. Specialist-managed with csDMARDs ± low-dose prednisolone; nintedanib and tocilizumab have since emerged as additional specialist-initiated options for progressive disease. BSR’s sequence: MMF is recommended as first-line treatment, with rituximab and/or IV cyclophosphamide as an alternative. Consider tocilizumab as first-line in early diffuse cutaneous disease with raised inflammatory markers and ATA positivity. Nintedanib is recommended in progressive pulmonary fibrosis despite immunosuppressant treatment, and may be considered first-line with MMF in extensive fibrosis. Smoking cessation matters here specifically: smoking reduces the efficacy of nintedanib.
• Pulmonary arterial hypertension: specialist referral for suspected cases; annual screening echocardiogram + pulmonary function tests for early detection. Right heart catheterisation + high-resolution CT chest when cardiopulmonary disease is clinically suspected (e.g. unexplained exercise capacity decline) — right heart catheterisation is essential for diagnosis and to exclude other causes of raised pulmonary artery pressure.
• Scleroderma renal crisis: renal failure with accelerated hypertension — a medical emergency. Avoid prednisolone doses >15mg/day. Check BP several times weekly for the first 2 years post-diagnosis, and whenever symptomatic (headache, dizziness, visual disturbance — may present with acute pulmonary oedema). Suspect crisis with a BP rise ≥30mmHg above baseline. Urgent specialist referral and immediate ACE inhibitor (captopril preferred — short-acting, rapidly titratable) while awaiting review.