Cohort Definition Name: “Scleroderma”
Contributor name: Joel N. Swerdel
Contributor OrcId: 0000-0001-9491-2737
Logic Description: First occurrence of Scleroderma.
Recommended study application: outcome, indication
Assertion statement: This cohort definition was executed on at least one real person-level observational health data source and resulted in a cohort with at least 1 person.
Submitted cohort definition:
scleroderma.txt (1.3 KB)
Target Clinical Description
Scleroderma, also known as systemic sclerosis, is a chronic autoimmune connective tissue disorder characterized by excessive production and deposition of collagen in the skin and internal organs. This leads to progressive thickening and hardening of the affected tissues, affecting multiple organs such as the skin, blood vessels, lungs, heart, gastrointestinal tract, and kidneys. The condition is thought to result from an abnormal immune response and can vary in severity from mild to life-threatening.
Presentation for Scleroderma/Systemic Sclerosis:
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Skin changes: Thickening and hardening of the skin, particularly on the fingers, hands, face, and trunk. This can lead to tightness, reduced joint mobility, and difficulty in performing tasks.
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Raynaud’s phenomenon: Episodes of cold-induced color changes in the fingers and toes, often accompanied by pain, numbness, and tingling.
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Gastrointestinal symptoms: Acid reflux, difficulty swallowing (dysphagia), bloating, diarrhea, and constipation.
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Respiratory symptoms: Shortness of breath, dry cough, and lung involvement, such as pulmonary fibrosis.
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Joint pain and stiffness: Joint inflammation and stiffness, resembling symptoms of arthritis.
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Fatigue and malaise: Generalized tiredness and lack of energy.
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Organ involvement: Depending on the subtype and severity, scleroderma can affect various organs, including the heart, kidneys, blood vessels, and gastrointestinal tract.
Assessment for Scleroderma/Systemic Sclerosis:
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Clinical evaluation of skin involvement, including the extent and severity of skin thickening and presence of ulcers or calcinosis.
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Assessment of Raynaud’s phenomenon through history taking and examination of color changes in response to cold exposure.
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Pulmonary function tests to assess lung function and detect pulmonary involvement.
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Echocardiogram to evaluate heart function and detect any signs of cardiac involvement.
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Blood tests, including autoantibody testing (such as anti-centromere, anti-Scl-70 antibodies) and inflammatory markers.
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Imaging studies, such as chest X-ray, high-resolution CT scan, or esophageal motility studies, depending on specific symptoms and suspected organ involvement.
Differential diagnoses for Scleroderma/Systemic Sclerosis:
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Localized forms of scleroderma, such as morphea or linear scleroderma, which have limited skin involvement and do not affect internal organs.
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Other autoimmune connective tissue diseases, such as systemic lupus erythematosus (SLE) or rheumatoid arthritis.
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Idiopathic inflammatory myopathies, such as dermatomyositis or polymyositis.
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Other causes of fibrosis or thickening of the skin and organs, including eosinophilic fasciitis or systemic amyloidosis.
Treatment plan for Scleroderma/Systemic Sclerosis:
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Symptomatic treatment: Medications to manage specific symptoms, such as proton pump inhibitors for acid reflux, immunosuppressants for organ involvement, and pain relievers for joint pain.
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Disease-modifying treatment: Immunosuppressive medications, such as methotrexate or mycophenolate mofetil, to slow down the progression of the disease and prevent organ damage.
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Pulmonary hypertension management: Medications to lower pulmonary artery pressure and improve heart function, such as endothelin receptor antagonists or phosphodiesterase-5 inhibitors.
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Raynaud’s phenomenon management: Lifestyle modifications (e.g., avoiding cold exposure), calcium channel blockers, and medications to improve blood circulation, such as prostacyclin analogs.
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Physical therapy and occupational therapy: To maintain joint mobility, improve functionality, and manage complications like hand contractures.
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Regular monitoring and management of organ involvement through specialized healthcare providers, including rheumatologists, pulmonologists, cardiologists, and gastroenterologists.
Prognosis for Scleroderma/Systemic Sclerosis:
The prognosis of scleroderma/systemic sclerosis varies depending on the subtype, extent of organ involvement, and individual factors. Some individuals may have a relatively mild course with limited skin involvement, while others may experience progressive internal organ damage leading to significant disability and complications. Early diagnosis, regular monitoring, and appropriate treatment can help manage symptoms, slow disease progression, and improve quality of life. However, the condition is chronic and requires lifelong management. Multidisciplinary care, including close collaboration between various specialists, is crucial in providing comprehensive and personalized treatment.