Systemic Sclerosis (Scleroderma)

Introduction

If you have been diagnosed with systemic sclerosis — also known as scleroderma — you are at the start of what is usually a long relationship with a rheumatology team. Systemic sclerosis is a chronic autoimmune disease, meaning the immune system mistakenly attacks the body’s own tissues, and it affects more than just the skin. It can involve the blood vessels, lungs, heart, kidneys, and digestive tract. Because no two people have exactly the same pattern of involvement, care is highly individualised.

This guide is written for people who already have a diagnosis or are in the middle of being investigated for one, and for family members supporting them. It explains what the disease is, how it is classified, how doctors monitor it, the treatments commonly used today, and what daily life with systemic sclerosis can look like. The aim is not to replace your specialist’s advice but to help you understand the language and decisions you will encounter.

Outcomes in systemic sclerosis have improved meaningfully over the past two decades. Earlier diagnosis, better screening for internal organ involvement, and newer immunosuppressive and antifibrotic medications have changed what living with this condition looks like. Stability over many years is now a realistic goal for many people.

What Is Systemic Sclerosis (Scleroderma)?

Systemic sclerosis is a connective tissue disease driven by three interlinked problems:

• Immune system dysfunction — the immune system produces antibodies and inflammatory signals directed against the body’s own tissues.
• Vascular (blood vessel) damage — the small blood vessels become narrowed, stiff, and prone to spasm, which reduces blood flow to fingers, lungs, kidneys, and other tissues.
• Fibrosis (scarring) — specialised cells called fibroblasts produce too much collagen, the protein that gives tissues their structure. This causes thickening and hardening of the skin and scarring inside organs such as the lungs.

The word scleroderma literally means “hard skin,” and skin thickening is the most visible feature. But systemic sclerosis is fundamentally different from localised scleroderma (sometimes called morphea or linear scleroderma), which affects only the skin and underlying tissues without involving internal organs. Localised scleroderma is a separate condition with a different outlook and is not the focus of this article.

Systemic sclerosis is uncommon but not rare. It affects women several times more often than men and is most often diagnosed between the ages of 30 and 60, though it can occur at any age.

Types of Systemic Sclerosis

Doctors classify systemic sclerosis mainly by how much of the skin is affected, because this pattern correlates with which internal organs are most at risk and how the disease tends to evolve.

Limited Cutaneous Systemic Sclerosis

In limited cutaneous systemic sclerosis, skin thickening is confined to the fingers, hands, forearms below the elbow, lower legs below the knee, and the face. Raynaud’s phenomenon — the colour changes in the fingers triggered by cold or stress described below — is often present for years before other symptoms appear.

Limited disease tends to progress more slowly. Internal organ involvement still occurs, but it usually develops gradually and the lungs may be affected later through pulmonary arterial hypertension (high pressure in the blood vessels of the lungs). An older term for this pattern is CREST syndrome, after its main features: calcinosis (calcium deposits under the skin), Raynaud’s, oesophageal problems, sclerodactyly (tight skin on the fingers), and telangiectasia (small visible blood vessels).

Diffuse Cutaneous Systemic Sclerosis

In diffuse cutaneous systemic sclerosis, skin thickening extends above the elbows, above the knees, or onto the trunk. Disease activity is usually more rapid in the first few years after onset, and the risk of significant internal organ involvement — particularly interstitial lung disease and scleroderma renal crisis — is higher than in limited disease. Early, close monitoring is especially important in this group.

Systemic Sclerosis Sine Scleroderma

A smaller number of people develop the internal features of systemic sclerosis — such as Raynaud’s, characteristic antibodies, and lung or oesophageal involvement — without obvious skin thickening. This is called systemic sclerosis sine scleroderma (meaning “without scleroderma”) and is managed along the same lines.

Overlap Syndromes

Some people have features of systemic sclerosis together with another autoimmune disease, such as lupus, rheumatoid arthritis, or inflammatory muscle disease (myositis). These overlap syndromes need care that addresses both conditions.

Causes and Risk Factors

The precise cause of systemic sclerosis is not known. Current understanding describes it as a disease in which a genetic susceptibility meets one or more environmental triggers, leading to long-lasting immune activation, blood vessel injury, and tissue scarring.

Immune Dysregulation

People with systemic sclerosis produce autoantibodies — immune proteins targeted against their own cells. Specific autoantibodies, described in the diagnosis section below, are linked to particular patterns of organ involvement.

Genetic Predisposition

Systemic sclerosis is not directly inherited in most families. However, having a close relative with this or another autoimmune disease modestly increases risk. Several genes involved in immune regulation have been associated with susceptibility.

Environmental Triggers

Certain exposures have been linked to higher risk of systemic sclerosis or scleroderma-like syndromes, including silica dust (in mining, stone-cutting, and some construction work) and some organic solvents. Possible viral triggers have been studied but no single infection has been confirmed as a cause.

Sex and Age

Women are affected several times more often than men. Disease onset is most common between 30 and 60 years of age, though juvenile cases occur, and the disease can also begin in older adulthood.

Signs and Symptoms

If you already have a diagnosis, this section is less about recognising the disease and more about understanding the symptoms doctors look for during follow-up — signs that may suggest progression or new organ involvement.

Raynaud’s Phenomenon

Raynaud’s phenomenon is often the first symptom and may precede other features by years. The small blood vessels in the fingers (and sometimes toes, nose, or ears) spasm in response to cold or emotional stress, causing the fingers to turn white, then blue, then red as blood flow returns. In systemic sclerosis, repeated severe Raynaud’s episodes can lead to small ulcers on the fingertips.

Skin Changes

Early on, the fingers and hands may feel swollen or puffy. Over time, the skin can become tight, shiny, and thickened. The face may lose its usual creases, and the mouth opening can become smaller. Small dilated blood vessels (telangiectasias) may appear on the face, hands, or chest. Hard, chalky calcium deposits (calcinosis) can form under the skin, particularly over the fingers and elbows.

Musculoskeletal Symptoms

Joint stiffness, tendon friction rubs (a creaking sensation over tendons), and muscle weakness can occur. Reduced finger flexibility may make tasks such as buttoning clothes or opening jars more difficult.

Lung Symptoms

Shortness of breath on exertion, a persistent dry cough, or reduced exercise tolerance can be signs of interstitial lung disease (scarring of the lungs) or pulmonary arterial hypertension. These symptoms can be subtle and are a key reason for regular lung screening even when you feel well.

Digestive Symptoms

The gut is involved in most people with systemic sclerosis. Common features include heartburn and acid reflux from a weakened oesophagus, difficulty swallowing, early fullness after meals, bloating, alternating constipation and diarrhoea, and unintentional weight loss.

Heart and Kidney Symptoms

Palpitations, chest discomfort, or new swelling of the ankles can reflect heart involvement. A sudden rise in blood pressure, severe headache, or reduced urine output may indicate scleroderma renal crisis, a serious complication described later.

Symptoms vary widely between individuals and over time. Keeping a brief record of new or worsening symptoms between appointments can help your rheumatology team detect changes early.

Diagnosis

Diagnosis is usually made by a rheumatologist based on a combination of clinical features, blood tests, and tests of organ function. Major rheumatology societies use shared classification criteria (the ACR/EULAR criteria) that combine skin findings, Raynaud’s phenomenon, abnormal nailfold capillaries, specific autoantibodies, and lung involvement.

Clinical Examination

A careful examination of the skin, hands, face, mouth, joints, lungs, and heart is the starting point. The doctor will measure how far skin thickening extends, as this guides classification into limited or diffuse disease.

Blood Tests

• Antinuclear antibody (ANA) — positive in the great majority of people with systemic sclerosis.
• Anti-centromere antibodies — more often associated with limited cutaneous disease and a higher risk of pulmonary arterial hypertension.
• Anti-topoisomerase I (anti-Scl-70) antibodies — more often associated with diffuse disease and interstitial lung disease.
• Anti-RNA polymerase III antibodies — associated with rapidly progressive skin disease and increased risk of scleroderma renal crisis.
• General markers of inflammation, kidney function, and muscle enzymes may also be checked.

Nailfold Capillaroscopy

Lung Assessment

• High-resolution CT (HRCT) of the chest looks for interstitial lung disease.
• Pulmonary function tests measure how well the lungs move air and transfer oxygen.
• Echocardiogram screens for pulmonary hypertension and assesses heart function.
• Right heart catheterisation — a small catheter measurement — may be used to confirm pulmonary hypertension if the echocardiogram suggests it.

Other Tests

Depending on symptoms, your team may arrange tests of swallowing and gut function, kidney function and urine analysis, electrocardiograms (ECGs), and skin biopsies in selected cases. Early diagnosis matters because some of the most effective interventions — for instance, treating interstitial lung disease before significant scarring sets in — depend on catching organ involvement early.

Treatment and Management

There is no single medication that treats every aspect of systemic sclerosis. Instead, care is built around the specific organs affected in each person. Major rheumatology societies, including EULAR and the American College of Rheumatology, organise treatment recommendations by organ system. The broad goals are to calm the immune system, protect blood flow, slow fibrosis, treat complications early, and preserve daily function.

Treating Raynaud’s Phenomenon and Digital Ulcers

Calcium channel blockers (such as nifedipine) are commonly used as a first-line medication for Raynaud’s in systemic sclerosis. Phosphodiesterase-5 (PDE-5) inhibitors (such as sildenafil or tadalafil) and topical nitrates may be added for more severe symptoms or for fingertip ulcers. For recurrent or severe digital ulcers, intravenous prostacyclin analogues (such as iloprost) and the endothelin receptor antagonist bosentan are options that EULAR guidance discusses.

Treating Skin Disease

For people with active, progressive skin thickening — particularly in early diffuse disease — immunosuppressive medication is commonly used. Methotrexate has been used for skin involvement, and mycophenolate mofetil is widely used because it can address skin and lung disease together. Newer approaches, including rituximab (a biologic that depletes B cells) and tocilizumab (an interleukin-6 inhibitor), are options that specialists consider for selected patients.

Treating Interstitial Lung Disease

Interstitial lung disease is one of the most important causes of disability and reduced life expectancy in systemic sclerosis, so treating it early matters. Mycophenolate mofetil is commonly used as a first-line immunosuppressant. Cyclophosphamide is an alternative, particularly for severe or rapidly progressive lung disease. Nintedanib, an antifibrotic medication, is approved in many countries for systemic sclerosis-associated interstitial lung disease and can be used alone or with mycophenolate. Tocilizumab is another option that has shown benefit in slowing lung function decline in selected patients.

Treating Pulmonary Arterial Hypertension

Pulmonary arterial hypertension — high blood pressure in the lung arteries — is treated with medications developed specifically for this condition, including endothelin receptor antagonists, PDE-5 inhibitors, soluble guanylate cyclase stimulators, and prostacyclin analogues. Combination therapy is common, and care is usually shared with a pulmonary hypertension specialist.

Treating Scleroderma Renal Crisis

Scleroderma renal crisis is a sudden, severe rise in blood pressure with rapid kidney injury. It is a medical emergency. The cornerstone of treatment is prompt use of ACE inhibitors (such as captopril or enalapril), often at high doses and titrated quickly. Early ACE inhibitor treatment has transformed the outlook for renal crisis. Long-term steroid use at high doses is generally avoided in systemic sclerosis because it can increase the risk of renal crisis — an important reason corticosteroids are used cautiously and at the lowest dose needed.

Treating Gastrointestinal Involvement

Acid reflux is managed with proton pump inhibitors, often at higher than standard doses. Prokinetic medications can help with delayed stomach emptying. Bacterial overgrowth in the small intestine is treated with rotating courses of antibiotics. Nutritional support, including supplements and in some cases tube feeding, may be needed if weight loss is significant.

Immunosuppressants and Biologics: A Summary

The most commonly used disease-modifying medications include:

• Mycophenolate mofetil — widely used for skin and lung disease.
• Methotrexate — used particularly for skin and joint involvement.
• Cyclophosphamide — reserved for severe or rapidly progressive disease, given its toxicity profile.
• Rituximab — a biologic used in selected cases of skin and lung involvement.
• Tocilizumab — an interleukin-6 inhibitor with a role in interstitial lung disease.
• Nintedanib — an antifibrotic medication for interstitial lung disease.

Autologous Stem Cell Transplantation

For carefully selected people with severe, rapidly progressive diffuse systemic sclerosis, autologous haematopoietic stem cell transplantation (HSCT) is an option discussed in international guidelines. It involves intensive immunosuppression followed by infusion of the person’s own previously collected stem cells. HSCT carries significant risks and is offered only in specialised centres after careful screening.

Corticosteroids: A Note of Caution

Corticosteroids are sometimes used at low doses for inflammatory features such as active arthritis or myositis. However, higher doses have been linked to an increased risk of scleroderma renal crisis. For this reason, major societies recommend keeping steroid doses as low as possible and avoiding them where they are not clearly needed.

Lifestyle and Self-Management

Day-to-day choices play an important role alongside medication. The areas below are widely discussed in patient education materials from major rheumatology and scleroderma organisations.

Protection from Cold

Cold is the most common trigger for Raynaud’s phenomenon. Keeping the whole body warm matters more than just covering the hands. Layered clothing, gloves or mittens (mittens keep fingers warmer than gloves), warm socks, hats, and hand warmers help. Avoiding sudden temperature changes — such as reaching into freezers without gloves — reduces flare-ups. Stopping smoking is strongly advised, as nicotine narrows blood vessels and worsens Raynaud’s and digital ulcer risk.

Skin Care

Daily application of unscented moisturisers can help with tightness, dryness, and itching. Gentle cleansers, avoiding very hot water, and protecting fingertips from injury (where ulcers often start) are part of routine care. Sun protection is also worth attention, especially over telangiectasias.

Physical Activity and Therapy

Regular movement helps preserve joint range, hand function, and exercise capacity. Physiotherapy can address joint stiffness, hand exercises, and breathing techniques. Occupational therapy can help with adaptations for daily tasks — jar openers, button hooks, easier-grip pens — that reduce strain on stiff hands. Speech and language therapy can help where oral opening is reduced or swallowing is affected.

Eating and the Digestive System

Strategies that often help reflux and gut symptoms include eating smaller, more frequent meals; remaining upright for two to three hours after eating; raising the head of the bed; avoiding food and fluids close to bedtime; and limiting triggers such as spicy food, caffeine, alcohol, and large fatty meals. A dietitian familiar with systemic sclerosis can be valuable, particularly if weight loss or malnutrition develops.

Dental and Oral Health

Tight skin around the mouth, dry mouth, and reduced manual dexterity can make dental care difficult and increase the risk of cavities and gum disease. Regular dental review, mouth-stretching exercises, and adapted toothbrushes are often recommended.

Stress and Sleep

Stress and poor sleep can worsen Raynaud’s and fatigue. Approaches such as paced breathing, mindfulness, gentle exercise, and addressing reflux at night may help. Fatigue is common in systemic sclerosis and is sometimes underestimated; pacing daily activities is a reasonable approach.

Monitoring and Targets

• Rheumatology review every three to six months in the early years, then less frequently when stable.
• Pulmonary function tests usually every six to twelve months, more often in the first three to five years after onset of diffuse disease or when lung disease is present.
• Echocardiogram typically once a year to screen for pulmonary hypertension.
• HRCT chest at diagnosis and repeated based on symptoms and lung function trends.
• Blood pressure monitoring — many people are asked to check blood pressure at home, particularly in the first five years of diffuse disease, because of renal crisis risk.
• Kidney function and urine tests at routine visits.
• Skin score — doctors may use a standardised measure (the modified Rodnan skin score) to track skin involvement.

Bringing a written list of questions and a record of new symptoms or readings to appointments helps make the most of each visit.

Complications

Complications vary by disease type and organ involvement. Understanding the main ones helps you and your team recognise problems early.

Interstitial Lung Disease

Scarring of the lungs that can lead to progressive shortness of breath. Risk is higher in diffuse disease and in those with anti-Scl-70 antibodies.

Pulmonary Arterial Hypertension

High blood pressure in the lung arteries causing breathlessness, fatigue, and, if untreated, heart strain. More common in limited disease and in those with anti-centromere antibodies.

Scleroderma Renal Crisis

Sudden severe high blood pressure with rapid kidney injury. Most often occurs in the first five years of diffuse disease. Warning signs include a new severe headache, blurred vision, sudden marked rise in blood pressure readings, and reduced urine output.

Heart Involvement

Direct heart involvement can include scarring of heart muscle, abnormal heart rhythms, and fluid around the heart. Symptoms may be subtle, which is why screening is part of routine care.

Gastrointestinal Complications

Severe reflux can lead to oesophageal narrowing or precancerous changes (Barrett’s oesophagus), which may need endoscopic monitoring. Small intestinal bacterial overgrowth can cause malabsorption and weight loss. Severe gut dysmotility, though uncommon, can require nutritional support.

Digital Ulcers and Tissue Loss

Recurrent fingertip ulcers can be painful and slow to heal. Severe cases can lead to infection or loss of small areas of tissue.

Calcinosis

Calcium deposits under the skin can be painful and may break through the skin surface. They are particularly common in limited cutaneous disease.

Living with Systemic Sclerosis

Adjusting to life with a chronic, multisystem disease is a process that unfolds over months and years. Many people describe an initial period of grief or anxiety after diagnosis, followed by gradual adaptation as they learn what their version of the disease looks like.

Emotional Wellbeing

Living with visible skin changes, fatigue, uncertainty about progression, and frequent medical appointments can affect mood. Anxiety and depression are more common in people with systemic sclerosis than in the general population. Psychological support — whether through counselling, peer support groups, or specialist mental health input — is a recognised part of comprehensive care.

Work and Daily Life

Many people continue to work, sometimes with adjustments such as warmer working environments, flexibility around medical appointments, ergonomic adaptations, or shifts away from cold or chemical exposures. Occupational therapy advice can help match daily tasks to current hand function.

Relationships and Intimacy

Skin tightening, vaginal dryness, reflux, and fatigue can affect intimate relationships. These are common concerns, and rheumatology and gynaecology teams are familiar with discussing them. Vaginal moisturisers, lubricants, and where appropriate, hormonal treatments can help; for men, erectile dysfunction is more common than in the general population and is often treatable.

Pregnancy

Pregnancy in systemic sclerosis is considered high-risk and is best planned with input from a rheumatologist and an obstetrician experienced in autoimmune disease. The first few years after diagnosis — particularly with diffuse disease — carry the highest risk for renal crisis and rapid lung involvement, so timing matters. Several medications used in systemic sclerosis are not safe in pregnancy and need to be reviewed in advance. Many people with stable disease have successful pregnancies, but close monitoring is essential.

Vaccinations and Infection Risk

Immunosuppressive medications increase the risk of infection. Major societies advise that people on these medications keep up to date with recommended vaccinations, including influenza, COVID-19, and pneumococcal vaccines, and avoid live vaccines while on certain immunosuppressants. Your rheumatology team will guide which vaccines are appropriate and when.

Systemic Sclerosis in Children

Juvenile systemic sclerosis — systemic sclerosis beginning before the age of 16 — is uncommon. It shares many features with adult disease but has some important differences. Severe internal organ involvement at diagnosis appears to be less frequent than in adults, and long-term outcomes are often better, though overlap with other autoimmune diseases is more common.

Care is led by a paediatric rheumatologist, usually with input from paediatric pulmonology, cardiology, gastroenterology, and dermatology as needed. The principles of treatment — immunosuppression for active disease, organ-specific therapy, vascular protection, and close monitoring — are similar to those in adults, with medication choices and doses adjusted for age and growth.

Beyond medical care, growing up with systemic sclerosis raises particular issues: schooling and adjustments for fatigue or cold sensitivity, social development around visible skin changes, and the transition to adult rheumatology services in adolescence. Family support and psychological input are important parts of paediatric care.

Prevention of Progression and Complications

Systemic sclerosis cannot be prevented, and there is no known way to predict who will develop it. But once diagnosed, several steps can reduce the risk of complications or slow disease progression:

• Attending all monitoring appointments, even when you feel well, so that lung, heart, and kidney changes are caught early.
• Taking prescribed medications consistently and discussing side effects rather than stopping treatment without review.
• Stopping smoking and avoiding second-hand smoke, given the impact on blood vessels, lungs, and digital ulcers.
• Keeping warm and limiting cold exposure to reduce Raynaud’s severity.
• Monitoring blood pressure at home in the early years of diffuse disease, as advised.
• Treating reflux consistently to reduce the risk of oesophageal complications.
• Keeping vaccinations up to date.
• Discussing any planned pregnancy in advance.

When to Seek Urgent Care

Some symptoms in systemic sclerosis need same-day medical assessment. Contact your rheumatology team or seek emergency care for:

• A sudden severe headache, new visual disturbance, or unusually high blood pressure readings — possible scleroderma renal crisis.
• Rapidly worsening shortness of breath, especially at rest or with minimal activity.
• Chest pain, fainting, or marked palpitations.
• A fingertip ulcer with spreading redness, swelling, pus, or fever — possible infection.
• Severe vomiting, inability to swallow fluids, or sudden severe abdominal pain.
• Signs of infection (fever, chills, productive cough) while on immunosuppressive medication.

Carrying a brief written summary of your diagnosis, medications, and rheumatology team contact details is useful in emergency situations, particularly when travelling.

Frequently Asked Questions

Is systemic sclerosis the same as scleroderma?

The terms are often used interchangeably, but strictly speaking scleroderma is a broader word that includes both localised forms (which affect only the skin) and systemic sclerosis (which affects the skin and internal organs). When doctors say “scleroderma” in the context of a multisystem autoimmune disease, they usually mean systemic sclerosis.

Can systemic sclerosis be cured?

There is currently no cure. However, treatments can slow progression, protect organs, and substantially improve symptoms. Many people achieve long periods of stability, and outcomes have improved over the past two decades as therapies have advanced.

Is systemic sclerosis inherited?

It is not inherited in a direct way. The risk in close relatives is higher than in the general population but still low in absolute terms. Genetic testing is not part of routine care.

Do I need to take immunosuppressants for life?

Treatment duration depends on disease activity and which organs are involved. Some people need long-term immunosuppression to protect the lungs or skin; others taper medications when disease has been stable for a long time. Decisions about continuing, changing, or stopping medication are made with your rheumatology team based on regular review.

Will I need a lung or kidney transplant?

Most people with systemic sclerosis do not need transplantation. For a smaller group with advanced, treatment-resistant lung disease or end-stage kidney disease, lung transplantation and kidney transplantation are options that specialised centres consider. Outcomes after transplantation in systemic sclerosis have improved with careful patient selection.

Can I exercise with systemic sclerosis?

Regular, moderate physical activity is generally encouraged, including aerobic exercise within tolerance, range-of-motion work for joints and hands, and gentle strengthening. The right programme depends on your lung, heart, and joint status; a physiotherapist familiar with systemic sclerosis can help tailor it.

Is it safe to become pregnant?

Pregnancy is possible for many people with systemic sclerosis but is considered high-risk and is best planned in advance with both a rheumatologist and an obstetrician. Disease stability, organ involvement, current medications, and the time since diagnosis all influence the discussion.

How quickly does the disease progress?

Progression varies widely. Limited cutaneous disease often evolves slowly over many years. Diffuse cutaneous disease tends to be most active in the first three to five years, after which the skin frequently softens again, even though internal organ involvement may still need monitoring. Individual trajectories differ, which is why regular review is so important.

Conclusion

Systemic sclerosis is a multisystem autoimmune disease that asks a great deal of the people who live with it — daily skin care, attention to warmth, watchfulness for new symptoms, regular monitoring of lungs and kidneys, and long-term medication for many. It is also a condition where the medical landscape has changed significantly in recent years. Better understanding of the disease, earlier diagnosis, organ-specific treatments, and newer antifibrotic and biologic medications have improved what is possible.

The most important relationship in your care is with an experienced rheumatology team who can coordinate input from pulmonology, cardiology, gastroenterology, dermatology, and other specialists as your individual pattern of disease evolves. Alongside medical care, your own knowledge of the condition, the daily habits you build, and the support you draw on from family, peers, and mental health services all shape day-to-day life. Living with systemic sclerosis is rarely simple, but for many people today it is compatible with work, relationships, family life, and a clear sense of being more than the diagnosis.