Systemic sclerosis, also known as scleroderma, is a rare autoimmune disease that leads to scarring (fibrosis) and inflammation of various body tissues and hardening of blood vessels.
The name “scleroderma” means hard skin, which is often the most visible sign of this condition. However, systemic sclerosis goes beyond the skin and can cause inflammation and scarring in other parts of the body such as:
• Lungs (interstitial lung disease)
• Heart
• Digestive system – causing poor movement in the digestive tract
• Blood vessels
o Causing high pressures in the blood vessels in the lungs (pulmonary hypertension)
o In the small blood vessels in the fingers and toes, causing colour change in a cold environment (Raynaud’s phenomenon)
• Kidneys – causing high blood pressure and worsening kidney function (in severe cases, leading a condition called scleroderma renal crisis)
Symptoms vary widely from person to person. They often develop gradually but may come on suddenly. Common signs and symptoms of systemic sclerosis include:
• Skin and circulation
o Tightening of the skin on the fingers, hands, feet and face
o Swollen puffy fingers which may be itchy
o Raynaud’s phenomenon (fingers and/or toes changing colour in response to cold or stress)
o Small red spots on the skin (telangiectasia)
o Ulcers at the fingertips (due to poor blood flow)
o Small hard calcium deposits under the skin (calcinosis)
o Speckled “salt-and-pepper” appearance of the skin (a combination of areas of paler skin due to loss of skin pigmentation and areas of darker skin around the hair follicles where the skin pigmentation remains)
• Digestive system
o Heartburn, reflux, difficulty swallowing
o Bloating, diarrhoea or constipation
• Lungs
o Shortness of breath and dry cough
• Heart
o Shortness of breath, palpitations, chest pain, leg swelling
• Joints and muscles
o Joint pain, swelling and stiffness
o Joint contractures
o Muscle aches
o Weakness in the arms/legs
• Kidneys
o High blood pressure
• General symptoms
o Fatigue
o Weight loss or loss of appetite
Systemic sclerosis cannot be diagnosed based on a single test alone. Doctors use a combination of symptoms, physical examination signs, blood tests, and organ-specific assessments to make this diagnosis.
Key steps in diagnosis include:
• Detailed medical history and physical examination
• Laboratory tests including blood counts, inflammatory markers and assessment of the liver and kidney function
• Blood antibody tests: looking for specific antibodies that are commonly seen in systemic sclerosis such as anti-nuclear antibody, anti-centromere, anti-Scl70 and anti-RNA polymerase III
• Nailfold capillaroscopy: a simple test where a doctor looks at the small blood vessels at the base of the fingernails under a microscope. Patients with scleroderma may have abnormal blood vessels around the fingernails
• Organ-specific tests: to see if the lungs, heart, kidneys, or digestive system are affected. These may include:
o Lung function tests (blowing tests) and CT scans of the chest to look for any inflammation or scarring in the lungs
o Echocardiogram (ultrasound of the heart)
o Blood pressure measurement and blood/urine tests for kidney function
o Endoscopy (putting a small camera into the mouth or through the rectum) or scans of the digestive tract if there are swallowing or stomach symptoms.
Early and accurate diagnosis allows for closer monitoring and timely treatment, which can help prevent serious complications.
There is currently no cure for systemic sclerosis, but treatments can help control symptoms, protect organs, and improve quality of life. Care is usually coordinated by a rheumatologist, often together with other specialists such as lung, kidney, heart, skin, and gastrointestinal doctors. Patients who are treated adequately can continue to lead normal active lives.
Treatment is tailored to your symptoms, preferences and goals of care, and may include:
• Improving blood flow
o Medications to improve blood flow to the limbs to reduce Raynaud’s attacks and prevent finger ulcers
o Medications that relax blood vessels and lower pressure in the lungs in patients with pulmonary hypertension (high pressure in blood vessels in the lungs)
• Immune system control
o Steroids may be given for certain conditions such as when there is inflammation affecting the joints, muscles, skin, lungs and/or heart
o Immune suppression medications (such as mycophenolate mofetil, methotrexate, or cyclophosphamide) may be added to reduce the need for long-term steroids, reduce inflammation and slow down scarring in organs like the lungs and skin
o Newer biologic or targeted therapies may be considered in selected cases (such as rituximab and tocilizumab)
• Managing gut symptoms
o Acid-reducing medicines (proton pump inhibitors) and lifestyle measures for heartburn and reflux
o Treatments for bowel problems such as constipation, bloating, or diarrhoea
o Antibiotics may be required if there is suspicion of bacteria overgrowth in the intestines
• Medications for specific organ involvement
o For patients with heart or kidney involvement, cardiac/renal protective medications may be given, e.g. blood pressure medications such as ACE inhibitors or angiotensin II receptor blockers
o In patients with severe lung scarring (fibrosis), an anti-fibrotic medication (nintedanib) may be started in addition to immune suppression medications
• Supportive care
o Physiotherapy and occupational therapy to maintain mobility, hand function and muscle strength
o Skin care and wound care for ulcers
o Counselling, nutrition advice, and rheumatology nursing support
o Regular blood pressure monitoring
o Management of other co-existing medical conditions for holistic care e.g. osteoporosis, high blood pressure, high cholesterol, diabetes etc.
o Vaccinations are encouraged to prevent infections, especially in patients who are immune suppression medications (e.g. influenza, pneumococcal, COVID-19, respiratory syncytial virus and shingles).
