Systemic Sclerosis/ Scleroderma

What is Systemic Sclerosis/Scleroderma? 

Systemic sclerosis, also known as scleroderma in Singapore, is a rare autoimmune disease affecting the body's connective tissues. The term "scleroderma" is derived from the Greek words "sclero," meaning hard, and "derma," meaning skin. This name reflects one of the hallmark symptoms of the condition: the hardening and tightening of the skin. However, systemic sclerosis is not limited to the skin; it can affect various organs and systems throughout the body.

What causes Systemic Sclerosis/Scleroderma?

The exact cause of systemic sclerosis, or scleroderma, is not fully understood. It is not inherited, but it is believed to be caused by a combination of genetic and environmental factors. Environmental factors such as silica, solvent (vinyl chloride, benzene, epoxy resins), radiation exposure, and viral infections can trigger individuals with a genetic predisposition to develop systemic sclerosis. 

Systemic sclerosis is an autoimmune disease, meaning the body's immune system mistakenly targets and attacks its healthy tissues and cells. In the case of scleroderma, the immune system's response leads to an overproduction of collagen, a protein that forms the structural framework of the body's connective tissues. This excess collagen production is responsible for the thickening and hardening of the skin and organs throughout the body.

What are the symptoms of Systemic Sclerosis/Scleroderma?

Systemic sclerosis, or scleroderma, can manifest with a wide range of symptoms that affect the skin, blood vessels, and internal organs. The severity and combination of symptoms vary from person to person. Here are some of the common symptoms associated with systemic sclerosis, categorised by body parts:

Skin symptoms:

• Thickening and hardening of the skin, especially on the fingers, hands, and face. In more severe cases, it can also affect all other parts of the body, including the arms, legs, chest and abdomen.
• Skin tightness and reduced elasticity
• Intense itching and inflammation

Vascular symptoms:

• Puffy and swollen fingers
• Fingers and toes turn white, blue, or purple in response to cold or stress, followed by redness and pain as circulation returns, a condition known as Raynaud’s phenomenon
• Painful ulcers on the fingers and toes resulting from poor blood flow 

Gastrointestinal symptoms:

• Acid reflux and heartburn
• Difficulty swallowing (dysphagia)
• Gastrointestinal issues, such as bloating, diarrhoea, or faecal incontinence or constipation
• Weight loss

Respiratory symptoms:

• Shortness of breath and persistent cough if the lungs are affected

Cardiac symptoms:

• Chest pain or discomfort
• Irregular heartbeat (arrhythmia)

Joint and muscle symptoms:

• Joint pain, swelling and stiffness
• Muscle weakness

Kidney symptoms:

• High blood pressure (hypertension) if the kidneys are affected

Other symptoms:

• Fatigue
• Dry eyes and dry mouth
• Calcium deposits under the skin (calcinosis)

Systemic sclerosis can progress differently in different individuals. Some people may have mild or localised symptoms, while others may experience more severe and widespread involvement of internal organs. 

If you suspect you have systemic sclerosis/scleroderma or are experiencing any of the symptoms mentioned above, make an appointment with Asia Arthritis Rheumatology Clinic today.

Is Sclerosis/Scleroderma painful? 

Yes, scleroderma, or systemic sclerosis, can be painful. Pain in scleroderma is often associated with symptoms like muscle and joint pain, digital ulcers, gastrointestinal issues, Raynaud's phenomenon, and complications affecting internal organs. The extent and severity of pain vary from person to person and depend on the specific symptoms and complications of the disease.

Who is at risk of Sclerosis/Scleroderma in Singapore?

While systemic sclerosis/scleroderma can affect individuals of any age or gender, certain factors may increase the risk of developing scleroderma:

• Gender: scleroderma is more common in women than men, with a female-to-male ratio of about 3 to 1.
• Age: scleroderma can develop at any age, but the highest incidence is seen in individuals between the ages of 25 and 55.
• Genetics: there appears to be a genetic component to the development of scleroderma. While it is not directly inherited in a simple Mendelian pattern, certain genetic factors and variations in specific genes may increase the susceptibility to the disease. A family history of autoimmune diseases can be a risk factor.
• Environmental triggers: various environmental factors have been suggested as potential triggers for scleroderma, although none have been definitively proven. These factors may include exposure to certain chemicals, solvents, or infections. Some research has also explored the role of hormones and viral infections.

While these factors are associated with an increased risk, the majority of people with these risk factors will not develop scleroderma, and many individuals with scleroderma have no known risk factors. The disease remains relatively rare, and its exact cause is still the subject of ongoing research.

How is Sclerosis/Scleroderma diagnosed? 

Diagnosing systemic sclerosis, or scleroderma, typically involves the following:

• Medical history and physical examination: a detailed medical history will be obtained and a physical exam will be conducted. Your rheumatologist will ask about symptoms, family history, and any known risk factors.
• Assessment of skin changes: the extent and nature of skin involvement are essential for diagnosis. Your rheumatologist will assess skin thickening, tightness, and any characteristic skin changes associated with scleroderma. They will determine if the scleroderma pattern is limited cutaneous or diffuse cutaneous.
• Blood tests: various blood tests may be conducted to check for specific antibodies associated with scleroderma, including anti-centromere, anti-Scl-70 (anti-topoisomerase I), and anti-RNA polymerase III antibodies. 
• Imaging tests: imaging tests such as X-rays or computed tomography scans (CT scans), may be performed to assess the extent of organ involvement, particularly in the lungs and gastrointestinal tract.
• Pulmonary function tests: these tests evaluate lung function and can help identify any breathing difficulties or pulmonary fibrosis associated with scleroderma.
• Echocardiogram and electrocardiogram (ECG): these tests may be used to assess heart function, particularly if cardiac involvement is suspected.
• Nail fold capillaroscopy: examination of small blood vessels of the nailbed under a microscope to assess blood vessels alteration in scleroderma. 
• Skin biopsy: a small skin biopsy may be taken to examine the affected tissue microscopically. This can help confirm the diagnosis and assess the degree of fibrosis and collagen deposition.

The diagnosis of scleroderma can be challenging due to the variability of symptoms and the complexity of the disease. It may take time to gather all the necessary information and conduct the relevant tests.

What are the treatment options for Systemic Sclerosis/Scleroderma in Singapore? 

There is currently no cure for systemic sclerosis. Treatment of systemic sclerosis primarily focuses on managing symptoms, slowing disease progression, and preventing organ damage through medications. The approach to treatment vary depending on the symptoms and organ involvement experienced by the individual. Treatment options may include:

• Medications: non-steroidal anti-inflammatory drugs (NSAIDs) can help to manage painful and swollen joints. Other medications such as corticosteroids, immunosuppressive drugs may be prescribed to modulate immune response and reduce inflammation. In some cases, biologics therapy targeting specific immune pathways may be considered. 
• Management of Raynaud’s phenomenon: keep hands and feet warm and stop smoking. Medications such as calcium channel blockers or other medications can help to improve blood flow and prevent the development of ulcers. If ulcers develop, proper wound care is required.
• Gastrointestinal management: dietary modifications and medications such as proton pump inhibitors (PPIs) can help to reduce acid reflux. 
• Pulmonary rehabilitation: for individuals with pulmonary involvement, pulmonary rehabilitation programs may be recommended.
• Physical and occupational therapy: help improve joint mobility, manage pain, and maintain functional independence. Exercise and physical therapy may also be beneficial for maintaining lung function.
• Disease-modifying therapies: used to address complications or organ involvement. For example, individuals with lung involvement may require oxygen therapy, and those with severe gastrointestinal issues may need nutritional support or surgery.
• Regular monitoring: scleroderma typically requires ongoing medical monitoring to assess the progression of the disease and its impact on internal organs. Regular check-ups and diagnostic tests are crucial.

The management of scleroderma is individualised based on the specific needs and symptoms of each patient.  

Make an appointment with Asia Arthritis Rheumatology Centre where we prioritise our patient’s health by ensuring accurate diagnosis and personalised treatment.

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