Scleroderma

Scleroderma (from Greek: skleros = hard, derma = skin) is a long-term autoimmune condition in which the body produces too much collagen. This excess collagen causes skin, blood vessels and internal organs to become thickened, scarred and less flexible. In medical language it is often called systemic sclerosis.^{[1]NHS[2]SRUK}

It is not contagious, and it is not a cancer. It is also not the same as sclerosis (hardening of arteries) or multiple sclerosis. The disease can be mild and limited to the skin, or it can be more severe and involve organs such as the lungs, heart, kidneys and gut.

Around 12,000 people in the UK are thought to be living with systemic sclerosis. It is about three to four times more common in women than men, and most commonly begins between the ages of 30 and 50 — although it can affect people of any age, including children.^{[2]SRUK[1]NHS}

Scleroderma is usually divided into two main types based on how much skin and which organs are involved.^{[3]SRUK[5]NICE CKS}

• Limited cutaneous systemic sclerosis (lcSSc) — often affects the skin on the fingers, hands, lower arms, lower legs and face. It develops more slowly, and people may have Raynaud's phenomenon for many years before other signs appear. Internal organs can still be affected, but usually later.
• Diffuse cutaneous systemic sclerosis (dcSSc) — skin changes can come on quickly and spread to the trunk, upper arms and thighs. It is more likely to affect internal organs such as the lungs, kidneys and heart early on, so closer monitoring is needed.
• Localised scleroderma / morphea — skin thickening without internal organ involvement. This is usually managed by dermatology rather than rheumatology.

Scleroderma symptoms vary widely from person to person. The earliest sign is often Raynaud's phenomenon — fingers and toes that turn white, blue or red in the cold and may feel painful or numb. Other common symptoms include:^{[3]SRUK[5]NICE CKS}

• Skin changes — shiny, tight or thickened skin, especially on the fingers and hands; puffy fingers; ulcers at fingertips; visible tiny blood vessels (telangiectasia); small white lumps of calcium under the skin (calcinosis).
• Digestive problems — difficulty swallowing, heartburn, bloating, constipation or diarrhoea, and unintended weight loss.
• Lung symptoms — breathlessness, dry cough, or reduced exercise tolerance. These can be caused by pulmonary fibrosis or pulmonary hypertension.
• Kidney problems — high blood pressure, reduced urine output, swelling of ankles or legs. A severe form called scleroderma renal crisis can be life-threatening and needs urgent treatment.
• Heart and muscle symptoms — chest pain, palpitations, fatigue, muscle weakness or joint pain.

Because symptoms can come on gradually, many people are diagnosed only after several years of mild symptoms.

Diagnosis is usually made by a specialist, often a rheumatologist or dermatologist. There is no single test, so doctors look at symptoms, physical examination, blood tests and scans together.^{[1]NHS[4]British Society for Rheumatology[5]NICE CKS}

• Blood tests — especially autoantibodies such as anti-centromere, anti-Scl-70 (anti-topoisomerase I), and anti-RNA polymerase III. These can help distinguish the type and predict complications.
• Skin assessment — the modified Rodnan skin score is used to measure how much skin thickening there is.
• Heart and lung tests — echocardiogram, lung function tests, CT scan of the chest, and sometimes a right-heart catheter to check pulmonary blood pressure.
• Kidney checks — blood pressure monitoring, urine tests for protein, and blood tests for kidney function.
• Swallowing and gut tests — if there are reflux or swallowing problems, an endoscopy or barium swallow may be used.

If your GP suspects scleroderma or Raynaud's with unusual features, they should refer you to a specialist connective-tissue disease or scleroderma service. In England, NHS England commissions specialised scleroderma services for complex cases.^{[7]NHS England}

Scleroderma cannot currently be cured, but it can be treated. The aim is to control symptoms, prevent organ damage and improve quality of life. Treatment is tailored to the person and the organs involved.^{[1]NHS[6]Scleroderma Society[8]Versus Arthritis}

• Immunosuppressants — medicines such as mycophenolate mofetil, methotrexate, cyclophosphamide or azathioprine can slow skin thickening and lung inflammation.
• Anti-fibrotics — nintedanib is used in some people with progressive systemic sclerosis-related interstitial lung disease.
• Vascular (blood vessel) treatments — calcium-channel blockers, phosphodiesterase-5 inhibitors (such as sildenafil), iloprost infusions, and bosentan can help Raynaud's, ulcers and pulmonary hypertension.
• Heartburn and gut medicines — proton pump inhibitors, prokinetics, and laxatives or anti-diarrhoeals as needed.
• Kidney protection — ACE inhibitors are used to treat high blood pressure and, in an emergency, scleroderma renal crisis.
• Physical therapy and occupational therapy — hand exercises, skin care, splinting, and help with daily activities to keep joints moving and skin supple.

Regular monitoring is important, because the disease can change over time. People with diffuse disease may need more frequent lung and heart checks.

Small practical changes can make a big difference:

• Keep warm — wear gloves and warm layers, avoid touching cold objects, use hand-warmers, and warm the car before driving in winter.
• Stop smoking — smoking narrows blood vessels and worsens Raynaud's and lung disease. NHS Stop Smoking services are free.
• Protect your skin — moisturise regularly, protect fingertips from cuts, and watch for ulcers or infection.
• Eat thoughtfully — smaller, softer meals, sitting upright after eating, and raising the head of the bed can reduce reflux and swallowing problems.
• Stay active — gentle exercise, stretching and hand therapy help maintain movement and circulation.
• Look after your mental health — chronic conditions can affect mood, relationships and work. Talking to a counsellor, a support group or a specialist helpline can help.

If scleroderma affects your ability to work or care for yourself, you may be entitled to support such as PIP, ESA, Carer's Allowance or a Blue Badge. A welfare-rights adviser or Citizens Advice can help you apply.

You do not have to manage scleroderma alone. Several UK charities provide information, support groups, helplines and funding for research.

• Scleroderma & Raynaud's UK (SRUK) — the UK's leading charity for people with scleroderma and Raynaud's. Offers a helpline, online community, local support groups, information sheets and research funding.^{[9]SRUK[10]SRUK research}
• Scleroderma Society — provides information, support and a network for patients and carers.^{[6]Scleroderma Society}
• Versus Arthritis — general information on systemic sclerosis plus guidance on exercise, benefits and work.^{[8]Versus Arthritis}
• Raynaud's UK — specialist advice for people with Raynaud's, which often overlaps with scleroderma.
• NHS specialist centres — complex cases are managed through NHS England specialised scleroderma services, often in a hospital with a rheumatology department.

Survival and quality of life have improved greatly over the past two decades, thanks to better treatments for kidney crisis, pulmonary hypertension and lung fibrosis. Ongoing research — much of it funded by SRUK and the NIHR — is looking at new immune therapies, ways to predict complications earlier, and better tests for monitoring the disease.^{[10]SRUK research[7]NHS England}