Summary about Disease
Diffuse cutaneous systemic sclerosis (dcSSc), also known as diffuse scleroderma, is a rare autoimmune disease characterized by widespread thickening and hardening of the skin (scleroderma), along with internal organ involvement. The "diffuse" refers to the extent of skin involvement, affecting larger areas of the body, including the trunk, upper arms, and thighs. It progresses more rapidly than limited cutaneous systemic sclerosis and has a higher risk of internal organ complications.
Symptoms
Skin Thickening and Hardening: This is the hallmark symptom, affecting the trunk, upper arms, and thighs, in addition to the fingers and face. The skin may appear tight, shiny, and have limited movement.
Raynaud's Phenomenon: Fingers and toes turn white or blue in response to cold or stress.
Gastrointestinal Problems: Difficulty swallowing (dysphagia), heartburn, bloating, constipation, diarrhea, and malabsorption.
Lung Involvement: Shortness of breath, dry cough, pulmonary hypertension, and interstitial lung disease.
Heart Problems: Pericarditis, myocardial fibrosis, and arrhythmias.
Kidney Problems: Scleroderma renal crisis (a medical emergency with high blood pressure and kidney failure).
Joint Pain and Stiffness: Arthritis-like symptoms.
Fatigue: Persistent tiredness.
Muscle Weakness: Myopathy.
Telangiectasias: Small, dilated blood vessels on the skin, especially on the face and hands.
Digital Ulcers: Sores on the fingers and toes.
Causes
The exact cause of dcSSc is unknown. It is believed to be an autoimmune disorder where the immune system mistakenly attacks the body's own tissues. Risk factors include:
Genetics: There is a genetic predisposition, but it is not directly inherited. Certain genes may increase susceptibility.
Environmental Factors: Exposure to certain substances like silica dust, vinyl chloride, or organic solvents may trigger the disease in susceptible individuals.
Immune System Dysfunction: An overactive immune system leads to excessive collagen production, causing skin and organ fibrosis.
Medicine Used
Treatment focuses on managing symptoms and slowing disease progression. There is no cure. Medications used include:
Immunosuppressants:
Methotrexate: To suppress the immune system and reduce inflammation.
Mycophenolate Mofetil (CellCept): Another immunosuppressant used to reduce disease activity.
Cyclophosphamide: A powerful immunosuppressant used for severe lung or kidney involvement.
Antifibrotics:
Nintedanib (Ofev) and Pirfenidone: To slow the progression of lung fibrosis (interstitial lung disease).
Vasodilators:
Calcium Channel Blockers: Nifedipine, amlodipine to treat Raynaud's phenomenon and improve blood flow.
Prostaglandins: Iloprost to treat Raynaud's and digital ulcers.
Sildenafil (Viagra), Tadalafil (Cialis): To treat pulmonary hypertension.
ACE Inhibitors:
Captopril, Enalapril: To treat scleroderma renal crisis.
Proton Pump Inhibitors (PPIs):
Omeprazole, Pantoprazole: To manage gastroesophageal reflux disease (GERD).
Corticosteroids:
Prednisone: Used in low doses for inflammation, but long-term use has potential side effects.
Pain Relievers:
NSAIDs, Opioids: To manage joint pain and muscle pain.
Is Communicable
No, dcSSc is not communicable. It is an autoimmune disease and cannot be spread from person to person.
Precautions
Precautions are primarily aimed at managing symptoms and preventing complications:
Protect Skin: Moisturize regularly, avoid harsh soaps, wear gloves in cold weather, and protect skin from sun exposure.
Manage Raynaud's: Keep hands and feet warm, avoid smoking, and manage stress.
Dietary Modifications: Eat small, frequent meals, avoid trigger foods for GERD, and stay hydrated.
Physical Therapy: Maintain joint mobility and muscle strength.
Monitor Organ Function: Regular check-ups with a rheumatologist, including lung function tests, echocardiograms, and kidney function tests.
Smoking Cessation: Smoking can worsen Raynaud's phenomenon and lung disease.
Vaccinations: Stay up-to-date on vaccinations, including flu and pneumonia vaccines.
How long does an outbreak last?
dcSSc is a chronic disease. There are no "outbreaks" in the traditional sense like an infectious disease. The disease course varies, with some individuals experiencing rapid progression in the initial years followed by stabilization, while others have a more gradual progression. The symptoms are ongoing and require continuous management. The active inflammatory phase, where the disease progresses rapidly, is usually within the first 3-5 years after diagnosis.
How is it diagnosed?
Diagnosis involves a combination of:
Physical Examination: Assessing skin changes and other symptoms.
Blood Tests:
Antinuclear Antibody (ANA): Often positive in scleroderma.
Scleroderma-Specific Antibodies: Anti-Scl-70 (anti-topoisomerase I) antibody is common in dcSSc and is associated with increased risk of lung disease. Anti-RNA polymerase III antibody is also associated with dcSSc and renal crisis.
Complete Blood Count (CBC), Comprehensive Metabolic Panel (CMP): To assess organ function.
Skin Biopsy: To confirm the diagnosis and rule out other conditions.
Pulmonary Function Tests (PFTs): To assess lung function.
Echocardiogram: To evaluate heart function and pulmonary artery pressure.
High-Resolution Computed Tomography (HRCT) of the Chest: To assess lung involvement.
Esophageal Manometry and pH Monitoring: To evaluate esophageal function.
Timeline of Symptoms
The timeline varies, but a typical progression may include:
Initial Stage: Raynaud's phenomenon often appears first.
Early Phase: Skin thickening begins, often starting in the fingers and progressing to the trunk and upper extremities within months.
Active Phase: The disease progresses most rapidly in the first 3-5 years, with increasing skin thickening and potential organ involvement (lungs, heart, kidneys, gastrointestinal tract).
Late Phase: After the initial active phase, the disease may stabilize, but existing organ damage may persist and require ongoing management. Skin thickening may plateau or even soften slightly over time.
Important Considerations
Early Diagnosis and Treatment: Early diagnosis and treatment are crucial to slow disease progression and prevent organ damage.
Multidisciplinary Care: Management requires a team of specialists, including a rheumatologist, pulmonologist, cardiologist, gastroenterologist, and nephrologist.
Individualized Treatment: Treatment plans should be tailored to the individual's specific symptoms and organ involvement.
Monitoring for Complications: Regular monitoring for lung disease, heart disease, kidney disease, and other complications is essential.
Quality of Life: Addressing pain, fatigue, and psychological distress is important for improving quality of life.
Clinical Trials: Consider participating in clinical trials to advance research and access new treatments.
Support Groups: Joining a support group can provide emotional support and practical advice.