Dsl

Diffuse Systemic Sclerosis
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Skin thickening, Raynaud's phenomenon, Esophageal dysmotility, Pulmonary fibrosis
Complications	Pulmonary hypertension, Renal crisis
Onset	30-50 years
Duration	Chronic
Types	N/A
Causes	Autoimmune disease
Risks	Genetic predisposition, Environmental factors
Diagnosis	Clinical examination, Autoantibody testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Immunosuppressive therapy, Symptomatic management
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Diffuse Systemic Sclerosis (also known as Diffuse Scleroderma) is a subtype of systemic sclerosis, a chronic autoimmune disease characterized by widespread vascular abnormalities and fibrosis of the skin and internal organs. It is a complex condition that affects multiple systems in the body, leading to significant morbidity and potential mortality.

Pathophysiology

Diffuse Systemic Sclerosis is primarily an autoimmune disease where the immune system attacks the body's own tissues. The hallmark of the disease is excessive collagen deposition, leading to fibrosis of the skin and internal organs. The pathogenesis involves:

• Vascular damage: Early endothelial cell injury leads to Raynaud's phenomenon and contributes to tissue ischemia.
• Immune activation: Aberrant activation of the immune system results in the production of autoantibodies and pro-fibrotic cytokines.
• Fibrosis: Overproduction of collagen by activated fibroblasts results in thickening and hardening of tissues.

Clinical Features

The clinical presentation of Diffuse Systemic Sclerosis is variable but typically includes:

• Skin involvement: Rapid onset of skin thickening, starting from the fingers and extending proximally. The skin becomes tight, shiny, and may restrict movement.
• Raynaud's phenomenon: Episodic vasospasm of the digits in response to cold or stress, leading to color changes (white, blue, red).
• Musculoskeletal symptoms: Joint pain, stiffness, and contractures.
• Gastrointestinal involvement: Esophageal dysmotility, gastroesophageal reflux disease, and malabsorption.
• Pulmonary involvement: Interstitial lung disease and pulmonary arterial hypertension.
• Renal involvement: Scleroderma renal crisis, characterized by sudden onset of hypertension and renal failure.

Diagnosis

The diagnosis of Diffuse Systemic Sclerosis is based on clinical evaluation and laboratory tests:

• Clinical examination: Assessment of skin thickening, joint involvement, and organ function.
• Autoantibody testing: Presence of specific autoantibodies such as anti-Scl-70 (anti-topoisomerase I) is supportive of the diagnosis.
• Imaging and functional tests: High-resolution CT scan for lung involvement, echocardiography for cardiac assessment, and renal function tests.

Management

Management of Diffuse Systemic Sclerosis is challenging and requires a multidisciplinary approach:

• Immunosuppressive therapy: Medications such as methotrexate, mycophenolate mofetil, and cyclophosphamide are used to reduce immune activity and slow disease progression.
• Symptomatic management: Treatment of specific symptoms such as proton pump inhibitors for gastroesophageal reflux, calcium channel blockers for Raynaud's phenomenon, and ACE inhibitors for renal crisis.
• Supportive care: Physical therapy, occupational therapy, and psychological support are important for maintaining quality of life.

Prognosis

The prognosis of Diffuse Systemic Sclerosis varies widely among individuals. Factors influencing prognosis include the extent of organ involvement, response to treatment, and the presence of complications such as pulmonary hypertension and renal crisis. Early diagnosis and comprehensive management can improve outcomes.

See Also

• Systemic sclerosis
• Autoimmune diseases
• Fibrosis

External Links

• [American College of Rheumatology]
• [Scleroderma Foundation]