Scleroderma is an autoimmune rheumatic disease that causes hardening and tightening of the skin and connective tissues. There are two main types of scleroderma: localized scleroderma, which affects only the skin, and systemic sclerosis, which also affects internal organs. While localized scleroderma is not life-threatening, systemic sclerosis can be fatal in some cases. However, with early diagnosis and proper treatment, many people with systemic sclerosis can live long and productive lives.
What is scleroderma?
Scleroderma literally means “hard skin.” In scleroderma, the body overproduces collagen, a fibrous protein that makes up connective tissue. This overproduction causes thickening and hardening of the skin and sometimes also the internal organs. Scleroderma can range from very mild to life-threatening, depending on how much of the body is affected.
There are two main categories of scleroderma:
- Localized scleroderma – Only affects the skin. It typically develops in childhood or young adulthood. It rarely spreads to other parts of the body or becomes severe.
- Systemic sclerosis – Affects not only the skin but also internal organs such as the lungs, heart, kidneys, and gastrointestinal tract. It typically develops in adults between the ages of 30-50. There are two subtypes:
- Limited cutaneous systemic sclerosis – Skin hardening limited to hands, face, feet, and forearms
- Diffuse cutaneous systemic sclerosis – Widespread skin hardening affecting large areas of the body
Systemic sclerosis is the more serious and potentially life-threatening form of the disease. The prognosis depends on how much vital organ damage occurs.
What causes scleroderma?
The exact cause of scleroderma is unknown. However, it likely results from a combination of the following factors:
- Immune system dysfunction – The immune system turns against the body’s own tissues.
- Genetic susceptibility – Certain gene variants may increase risk.
- Environmental triggers – Exposure to things like solvents or silica may set off the disease in those already at risk.
- Vascular injury – Blood vessel damage can lead to activation of the immune system.
In localized scleroderma, the disease is limited to the skin. But in systemic sclerosis, immune activation causes damage to blood vessels and excessive collagen production in tissues throughout the body.
What are the symptoms of scleroderma?
Symptoms of scleroderma vary widely depending on the type, subtype, and severity of the disease. Some common symptoms include:
- Hard, thickened skin
- Tight, mask-like facial skin
- Stiff joints
- Swollen fingers and toes
- Calcium deposits under the skin
- Weight loss
- Gastrointestinal problems like heartburn, constipation, and diarrhea
- Shortness of breath
- Dry cough
- Raynaud’s phenomenon (fingers turn blue or white in the cold)
- Kidney problems
- Heartburn
- Fatigue and muscle weakness
Symptoms tend to develop gradually over time. Early diagnosis and treatment offer the best chance of limiting progression of the disease.
How is scleroderma diagnosed?
There is no single test that can definitively diagnose scleroderma. Because symptoms vary so widely and can mimic other conditions, diagnosis involves a thorough medical history, physical exam, and multiple tests. These may include:
- Blood tests – To check for autoantibodies associated with scleroderma.
- Skin biopsies – To examine skin under a microscope.
- Pulmonary function tests – To assess lung involvement.
- Echocardiogram – To evaluate heart function.
- Barium swallow – To check for gastrointestinal problems.
- Nailfold capillaroscopy – To examine nail fold capillaries under a microscope.
Doctors also need to rule out other possible causes of symptoms, such as rheumatoid arthritis, lupus, thyroid disease, kidney failure, and liver disease. Prompt and accurate diagnosis allows treatment to begin as early as possible.
What is the prognosis for scleroderma patients?
The prognosis for scleroderma depends greatly on the type, extent of skin and organ involvement, and early diagnosis and treatment. Some key prognostic factors include:
- Type: Localized scleroderma generally does not affect life expectancy. Systemic sclerosis has higher mortality rates.
- Skin involvement: Widespread skin thickening is associated with more internal organ damage and worse prognosis.
- Organ involvement: Lung, heart, and kidney damage greatly impacts prognosis and survival.
- Gastrointestinal involvement: Can impair nutrition and indicate more serious disease.
- Age at onset: Later onset correlates with higher mortality rates.
- Autoantibodies: Certain antibodies like anti-topoisomerase and anti-RNA polymerase indicate more aggressive disease.
According to studies, survival rates for systemic sclerosis vary widely:
- 1 year – 91-100% survival
- 2 years – 84-91% survival
- 5 years – 62-79% survival
- 10 years – 54-77% survival
With recent advances in treatment, survival rates have improved over the past decades. Early diagnosis and management of organ involvement is key.
What is the life expectancy for someone with scleroderma?
There is no single life expectancy for scleroderma patients. Prognosis and life expectancy depend on many factors:
- Type: Localized scleroderma does not impact life expectancy. Systemic sclerosis does.
- Extent: Limited systemic sclerosis has better prognosis than diffuse disease.
- Organs affected: Lung, kidney and heart damage reduce life expectancy.
- Severity: Milder cases have better outlook than rapidly progressing ones.
- Age: Younger age at diagnosis equals better prognosis.
- Treatment response: Better outcomes with early, aggressive therapy.
According to studies, people with systemic scleroderma have overall mortality rates 2-4 times higher than the general population. However, survival is improving with earlier diagnosis and better treatment options.
One study found average life expectancy after systemic sclerosis diagnosis was:
- 11 years if diagnosed before age 45
- 7 years if diagnosed between ages 45-64
- 3 years if diagnosed after age 65
But these are averages only. Milder cases can have normal lifespan. Severe organ involvement reduces life expectancy. With proper management, many patients live well for decades after diagnosis.
Is scleroderma fatal?
Localized scleroderma is not fatal. The primary concern is cosmetic effects from skin damage. But systemic sclerosis can be fatal in severe cases with vital organ involvement like:
- Lungs – Pulmonary fibrosis and pulmonary arterial hypertension are leading causes of death.
- Heart – Heart failure, arrhythmias and hypertension can be fatal.
- Kidneys – Renal crisis with malignant hypertension can lead to kidney failure.
Other complications like gastrointestinal disease, infections, or aspiration pneumonia may also contribute to mortality. However, with early diagnosis and aggressive treatment, many patients achieve decades of survival.
Is scleroderma a terminal illness?
Scleroderma itself is rarely an inherently terminal or immediately life-threatening disease. However, severe organ damage resulting from systemic sclerosis can lead to death in some cases. It is not considered terminal in the sense that cancer at end stages may be.
Key points about systemic sclerosis prognosis and mortality:
- It is not an acute, rapidly fatal disease in most cases.
- Progression varies greatly, making survival hard to predict.
- With proper treatment, many patients live for decades.
- Organ damage like lung fibrosis reduces life expectancy.
- Fatal outcomes result from complications and organ failure.
- Early diagnosis and treatment is key to preventing life-threatening complications.
So while a scleroderma diagnosis is very serious, it does not mean someone is necessarily at the end stages of life. Quality of life and longevity can be improved with comprehensive disease management.
How is scleroderma treated?
There is no cure for scleroderma, but various treatments can alleviate symptoms and minimize organ damage. Some options include:
- Immunosuppressants – To control overactive immune system activity. Examples: methotrexate, mycophenolate, and cyclophosphamide.
- Biologics – Targets specific parts of the immune system. Examples: rituximab and tocilizumab.
- Antifibrotics – Slow down collagen production. Example: nintedanib.
- Vasodilators – Improve blood flow in fingers/toes. Example: calcium channel blockers.
- ACE inhibitors – Treat hypertension and kidney damage. Example: captopril.
- Proton pump inhibitors – Reduce stomach acid for gastrointestinal symptoms.
- Lung medications – Help manage lung complications.
In addition, good skin care, physical therapy, smoking cessation, and emotional support are important components of scleroderma treatment.
Organ complications like kidney failure or heart failure may require interventions like dialysis or surgery in some individuals.
What is the outlook for future scleroderma treatments?
The outlook for scleroderma treatment is hopeful. Better understanding of the disease and development of more targeted therapies are improving patient outcomes. Some promising directions include:
- Early diagnosis and aggressive treatment to prevent irreversible organ damage.
- Stem cell transplants to “reset” the immune system in certain patients.
- New immunosuppressant and antifibrotic medications to better control the disease process.
- Gene therapies to switch off disease-related genes.
- Growth factor therapies to repair organ damage.
- Precision medicine based on genetics and biomarkers.
While there is still no cure, the expanding scleroderma treatment arsenal offers hope for better quality of life and longevity for patients. Continued research brings us closer to defeating this challenging disease.
Conclusion
Scleroderma is a complex disease that can range from mild and non-life threatening to severe and fatal. While localized scleroderma affects only the skin, systemic sclerosis can damage vital organs and is linked to higher mortality. However, systemic sclerosis prognosis varies widely based on subtype, severity, organs affected, age of onset and other factors.
With recent advances in early diagnosis and treatment, many patients are now living well for decades after systemic sclerosis develops. Comprehensive disease management can prevent irreversible organ damage and disability in many cases. While systemic sclerosis can sometimes be fatal, it is not an acutely terminal illness for most patients. Ongoing research offers hope for improving prognosis and longevity even further in the future.
