# Systemic sclerosis (scleroderma)
What is it
Systemic sclerosis, also known as scleroderma, is an autoimmune disease in which the body's overactive immune system causes tissue to be excessively replaced by connective tissue (fibrosis). This leads to hardening and stiffening of the skin and organs.
Contrary to what the name "scleroderma" suggests, the problem is not limited to the skin. The disease can spread to the lungs, heart, kidneys, esophagus and other organs. This makes systemic sclerosis a complex disease that can affect different parts of the body.
There are two main variants:
- **Limited form**: primarily hands, arms and face are affected; usually less severe.
- **Diffuse form**: more widespread skin involvement and higher risk of organ damage.
The disease is rare and affects approximately 100–250 people per million inhabitants worldwide. It occurs more frequently in women than in men, usually between the ages of 30 and 50.
Causes
The precise cause of systemic sclerosis is not yet fully understood. Experts believe that a combination of factors contributes to it:
- **Genetic predisposition**: certain hereditary traits make a person more susceptible.
- **Immune system**: research shows that the body's own defense system turns against itself. Specific antibodies (such as anti-Scl-70) can be detected.
- **Environmental factors**: exposure to certain substances or physical trauma are sometimes mentioned in studies, but the evidence is not conclusive.
- **Cell and tissue dysfunction**: newer research points to problems in how cells grow and how the mitochondrial energy system works, which can lead to overproduction of connective tissue.
It is not a contagious disease and not hereditary in the sense that you automatically pass it from parents to children.
How the disease progresses
Systemic sclerosis progresses very differently in each person. Some people have months or years with stable symptoms, others experience faster changes.
**Typical progression:**
The disease usually begins gradually. Often the first signs are cold intolerance and some stiffness in the hands. Gradually, the skin can become tighter and shinier. In the months to years that follow, symptoms can increase and organs can become involved.
**Critical moments:**
In some patients (especially those with diffuse sclerosis), there can be a sudden deterioration in kidney function in the first years (scleroderma renal crisis). Lungs can also decline relatively rapidly in size and function. This makes regular medical checks important.
**Course in the worst case:**
Without treatment and with severe organ involvement, lungs, heart and kidneys can progressively fail. Modern treatments have made this scenario much less likely.
Symptoms by phase
Early stage (first months to year) - Raynaud's phenomenon: fingers turn white, blue or red in cold or stress (this can occur years before skin changes). - Swelling and stiffness of hands and feet, especially in the morning. - Fatigue and general malaise. - Joint-like pain points.
Progressive stage (year 2–5) - Skin becomes tighter, thick and shiny, especially on hands and face. - Face can become mask-like with stiffer facial expression. - Mouth opening can narrow (limited mouth opening). - Noticeable heart palpitations or mild difficulty breathing (often without serious complaints). - Esophageal problems: difficulty swallowing, heartburn, reflux. - Restless legs-like sensations.
Later stage - Skin sclerosis may stabilize or slowly improve. - Organ involvement becomes clearer: - **Lungs**: increasing shortness of breath, especially with exertion; cough. - **Kidneys**: high blood pressure, possible protein loss in urine. - **Heart**: heart rhythm disturbances, reduced pumping capacity. - **Stomach and intestines**: chronic fatigue due to poor nutrition and absorption. - Quality of life can decrease significantly due to fatigue and functional limitations.
What it means for daily life
Physical consequences The stiffness of the hands can make gripping, typing, and fine motor tasks more difficult. Sleeves and gloves can become uncomfortable. The limited mouth opening can make dental care and eating more complicated.
Shortness of breath on exertion means that many patients must adjust their activity level. A walk or climbing stairs becomes more difficult. Household chores can become more challenging.
Esophageal complaints may result in certain foods being better avoided. Regular small meals often work better than large portions.
Social and emotional consequences The visible nature of the disease (especially in the face and hands) can be difficult for some. People may feel insecure about their appearance.
Fatigue is a frequently mentioned burden. This can affect work, social contacts, and leisure activities. Many patients must make choices about where to invest their energy.
Work and studies Some people can still do their work largely as before, others must shorten working hours or seek different work. This depends greatly on the severity of symptoms and the type of work.
Medical care Regular check-ups with various specialists (pulmonologist, nephrologist, cardiologist, rheumatologist) become important. Blood tests and imaging are part of this. This requires time and organization.
Outlook
The outlook for systemic sclerosis has improved over the past decade, especially thanks to better treatments and early diagnosis.
**Survival:**
Research data from multiple countries (around 2020–2024) show that approximately 90% of patients are still alive five years after diagnosis, and approximately 80% after ten years. However, these figures are averages; they say nothing about an individual person, because the disease progresses very differently.
**Organ involvement:**
Whether and how quickly organs become involved varies greatly. Some people have primarily skin involvement throughout their lives, others develop severe lung involvement or kidney crisis. This is not easy to predict in advance.
**Quality of life:**
With proper guidance and treatment, many patients can reasonably continue their daily lives. Some report that their symptoms stabilize or even improve after a few years.
**What helps:**
- Early diagnosis and start of treatment.
- Regular screening for complications (lungs, kidneys, heart).
- Physiotherapy and ergonomic adjustments.
- Lifestyle changes (avoid cold, stop smoking, exercise as able).
Although systemic sclerosis is not curable, modern medications have been able to change its natural course. This offers hope and possibilities.
Frequently asked questions
**Q: Is systemic sclerosis hereditary?**
A: Systemic sclerosis is not directly passed from parent to child. There may be hereditary susceptibility (certain genes make someone more susceptible), but that alone is not sufficient. Environmental factors and chance also play a role. If a family member has the disease, the risk for other family members is slightly increased, but still low.
**Q: Can the disease stop or improve?**
A: Yes, in some patients symptoms stabilize after a few years, and sometimes doctors even see cautious improvements in skin involvement. This depends on many factors, including the form of the disease and how quickly it was detected. However, complete recovery is not possible.
**Q: What can I do myself to reduce symptoms?**
A: You're best asking your own doctor or physiotherapist about this, as it varies greatly from person to person. Many patients benefit from:
- Keeping hands warm (gloves, avoiding cold exposure).
- Regular gentle movement and stretching.
- Limiting stress.
- Healthy eating and good sleep.
This can relieve symptoms, but does not replace medical treatment.
**Q: What is the risk of kidney failure?**
A: This largely depends on the type of sclerosis and whether someone has thyroid auto-antibodies. Thyroid auto-antibodies (anti-Scl-70) increase the risk of kidney crisis. With early detection of high blood pressure and regular kidney function tests, serious kidney failure can usually be prevented.
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_This information never replaces a doctor's judgment. Always discuss your situation with your own healthcare provider._