Systemic sclerosis, or scleroderma, is a chronic autoimmune disease characterised by fibrosis (hardening) of the skin and internal organs. It affects connective tissues and blood vessels, leading to many symptoms and potential complications. Understanding systemic sclerosis involves exploring its symptoms, causes, diagnosis, treatment, and impact on patients’ lives.
Symptoms of Systemic Sclerosis
Systemic sclerosis can manifest in various ways and affect different body parts. Common symptoms include:
Skin Changes
- Thickening of the Skin – This occurs especially on the fingers, hands, face, and other areas, leading to a tight, shiny appearance.
- Raynaud’s Phenomenon – Episodes of colour changes in the fingers or toes in response to cold or stress, followed by pain and numbness.
Gastrointestinal Symptoms
- Heartburn and Acid Reflux – Due to the involvement of the oesophagus, leading to difficulty swallowing and chest pain.
- Gastrointestinal Motility Disorders – Including bloating, diarrhoea, constipation, and malabsorption.
Pulmonary Symptoms
- Interstitial Lung Disease – Scarring of lung tissue, causing shortness of breath, coughing, and decreased exercise tolerance.
- Pulmonary Arterial Hypertension – High blood pressure in the lungs’ arteries, leading to fatigue, chest pain, and shortness of breath.
Cardiac Symptoms
- Pericarditis – Inflammation of the lining around the heart, causing chest pain and discomfort.
- Arrhythmias – Irregular heartbeats due to fibrosis of the heart muscle.
Renal Symptoms
- Renal Crisis – Acute kidney injury characterised by high blood pressure, decreased urine output, and fluid retention.
Musculoskeletal Symptoms
- Joint Pain and Stiffness – Similar to symptoms of arthritis, affecting the hands, wrists, and other joints.
- Muscle Weakness – Due to fibrosis and inflammation of muscles.
Causes and Risk Factors of Systemic Sclerosis
The exact cause of systemic sclerosis is unknown, but it is believed to involve a combination of genetic, environmental, and immunological factors.
Genetic Factors
- Family History – Having a family member with scleroderma or another autoimmune disease increases the risk.
- Genetic Predisposition – Certain genetic markers have been associated with an increased susceptibility to systemic sclerosis.
Environmental Factors
- Exposure to Toxins – Occupational exposure to silica dust, organic solvents, and other chemicals may increase the risk.
- Infections – Some viral infections have been implicated as triggers for scleroderma.
Immunological Factors
- Autoimmune Response – Abnormal immune system activation leads to inflammation and fibrosis of tissues.
Diagnosis of Systemic Sclerosis
Due to its heterogeneous presentation, diagnosing systemic sclerosis can be challenging. Clinical evaluation, laboratory tests, and imaging studies are used for diagnosis.
Clinical Evaluation
- Medical History – Detailed questions about symptoms, their onset, and progression.
- Physical Examination – Assessment of skin changes, joint involvement, and organ function.
Laboratory Tests
- Autoantibodies – Detection of specific autoantibodies such as anti-centromere, anti-Scl-70 (anti-topoisomerase I), and anti-RNA polymerase III antibodies.
- Blood Tests – To assess organ function, inflammation markers, and the presence of renal crisis.
Imaging Studies
- Chest X-ray or CT Scan – To evaluate lung involvement and detect interstitial lung disease.
- Echocardiogram – To assess heart function and detect pulmonary hypertension.
- Renal Ultrasound – To assess kidney function and detect abnormalities.
Systemic Sclerosis Treatment
There is no cure for systemic sclerosis, but treatment aims to manage symptoms, slow disease progression, and prevent complications. A multidisciplinary approach involving rheumatologists, dermatologists, pulmonologists, and other specialists is often required.
Medications
- Immunosuppressants – Drugs like methotrexate, mycophenolate mofetil, and cyclophosphamide suppress the immune system and reduce inflammation.
- Corticosteroids – For short-term management of severe inflammation.
- Vasodilators – Medications like calcium channel blockers and prostacyclin analogues to improve blood flow and manage Raynaud’s phenomenon.
- Biologics – Targeted therapies such as rituximab for refractory cases.
Symptomatic Treatment
- Topical Therapies – Emollients and moisturisers to alleviate dry skin and reduce itching.
- Pain Management – Analgesics and nonsteroidal anti-inflammatory drugs (NSAIDs) for joint and muscle pain.
- Physical Therapy – To improve joint mobility, muscle strength, and function.
Surgical Intervention
- Digital Ulcer Debridement – Remove dead tissue in digital ulcers to promote healing.
- Lung Transplantation – In severe interstitial lung disease or pulmonary arterial hypertension cases.
Systemic sclerosis is a complex autoimmune disease that requires a comprehensive and multidisciplinary approach to management. Early diagnosis, effective treatment strategies, and regular monitoring are essential to controlling symptoms, slowing disease progression, and preventing complications. While there is no cure, advancements in research and treatment offer hope for better outcomes and improved quality of life for those living with systemic sclerosis. Education, support, and access to specialised care are crucial for optimising patient outcomes and enhancing overall well-being.
