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ESSENTIALS OF DIAGNOSIS

  • Scleroderma (systemic sclerosis) is a systemic autoimmune disease characterized by varying degrees of skin fibrosis, vascular damage, and a wide array of internal organ dysfunction.

  • Most manifestations of scleroderma fall into two main categories: fibrotic disease (such as skin tightening and interstitial lung disease [ILD]) and vascular disease (such as Raynaud phenomenon [RP] and pulmonary arterial hypertension [PAH]).

  • In limited cutaneous scleroderma, skin involvement remains confined to the distal extremities (fingers, toes) and face. In contrast, in the diffuse form of scleroderma, skin tightening extends proximal to the elbows and knees as well as the trunk. Both limited and diffuse scleroderma can have significant internal organ involvement.

  • RP and antinuclear antibodies (ANA) positivity are each present in more than 95% of scleroderma patients. When either of these features is missing, an alternative diagnosis should be strongly considered.

  • Some patients with scleroderma develop clinical features overlapping with other rheumatic disorders such as rheumatoid arthritis, systemic lupus erythematosus, inflammatory myopathy, and Sjögren syndrome.

  • It is helpful to take an organized organ-by-organ approach to assess an individual patient’s specific manifestations, disease activity, extent of damage, and treatment options.

  • There is no “universal” pharmacologic intervention for scleroderma that treats the disease as a whole. Combination therapy is most effective to address the heterogeneous nature of this disease manifestation.

General Considerations

Patients with scleroderma differ significantly from one another in regard to the timing of disease onset and progression, the combinations of organ-specific manifestations, the severity of their illness, and the response to therapy. This extreme variability makes it impossible to take a “one size fits all” approach to diagnosis and treatment. Effective care of scleroderma requires individualized attention to each patient’s unique characteristics and disease course. This is what makes treating scleroderma patients so challenging but also ultimately so rewarding.

Scleroderma is rare, affecting approximately 20 people per million per year, with an estimated prevalence in the United States of 100–300 cases per million. It affects women more commonly than men (4:1), and the average age at diagnosis is 30–50 years old. African Americans and Native Americans tend to have a more severe disease course and worse outcomes compared to Caucasians.

Survival in patients with scleroderma is often limited directly by the underlying disease manifestations. Prognosis is highly variable, depending on the disease subtype, the type and severity of internal organ involvement, and responsiveness to treatment. In particular, the following characteristics are associated with higher mortality:

  • Older age at onset

  • Male gender

  • African American ethnicity

  • Diffuse skin disease

  • Interstitial lung disease (ILD)

  • Pulmonary arterial hypertension (PAH)

  • Myocardial dysfunction

  • Scleroderma renal crisis

  • Severe gastrointestinal (GI) dysmotility

The 5-year survival rate for patients with limited scleroderma is approximately 90%, compared to 70–80% in diffuse scleroderma. Among patients with scleroderma, the most common cause of death is cardiac involvement (approximately 30%) followed by lung disease (approximately ...

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