Scleroderma, also known as systemic sclerosis, is a chronic autoimmune disease characterized by the overproduction of collagen. This leads to the hardening and tightening of the skin and connective tissues throughout the body. As an autoimmune disorder, the immune system mistakenly attacks its own tissues, causing fibrosis, or tissue thickening. Because scleroderma affects multiple organ systems—including the lungs, heart, kidneys, and digestive tract—managing this complex condition requires a specialized, multidisciplinary team to address both the underlying autoimmune process and systemic complications.
Diagnosis and Initial Referral
The first step in recognizing scleroderma often involves the primary care physician (PCP) or general practitioner. Patients may initially present with common symptoms like Raynaud’s phenomenon, where fingers and toes change color in response to cold, or unexplained skin thickening. The PCP’s role is to identify these early, non-specific signs and initiate preliminary screening to determine if an autoimmune disorder is present.
Initial blood tests check for elevated antinuclear antibodies (ANA), present in about 95% of people with scleroderma. Since ANA is not unique to scleroderma, the PCP uses these findings to confirm the suspicion of a systemic disease. If suspicion is high, the primary care provider facilitates a prompt referral to the appropriate specialist for a definitive diagnosis and long-term management plan.
The Central Role of the Rheumatologist
The rheumatologist serves as the primary specialist and coordinator of care for scleroderma patients. These physicians specialize in diseases of the joints, muscles, and bones, and manage systemic autoimmune disorders. The rheumatologist confirms the diagnosis using clinical evaluation combined with specific blood tests, such as those for anti-centromere or anti-Scl-70 antibodies, which suggest the disease.
After diagnosis, the rheumatologist classifies the type of scleroderma, typically as limited or diffuse, which guides the treatment strategy. They prescribe immunosuppressive and disease-modifying anti-rheumatic drugs (DMARDs) to manage the immune system malfunction and slow progression. Medications like mycophenolate or cyclophosphamide control systemic disease activity and prevent internal organ fibrosis, particularly in the lungs. The rheumatologist continually monitors disease activity, adjusts dosages, and coordinates screenings for potential organ involvement.
Specialists for Systemic Complications
Since scleroderma can affect nearly any part of the body, its management requires the collaborative expertise of several other specialists. A pulmonologist is involved when the disease affects the lungs, leading to interstitial lung disease (scarring) or pulmonary arterial hypertension. These specialists manage treatments to address breathing difficulties and maintain lung function.
Several specialists are required to manage systemic complications:
- A nephrologist manages kidney complications, such as scleroderma renal crisis, characterized by sudden, severe high blood pressure.
- Cardiologists treat heart-related issues, including arrhythmias, inflammation, or heart failure caused by muscle fibrosis.
- A gastroenterologist provides specialized care for widespread gastrointestinal problems, such as acid reflux and motility issues.
- A dermatologist treats severe skin complications, including digital ulcers associated with Raynaud’s phenomenon and profound skin hardening.
These specialists work closely with the rheumatologist, providing targeted interventions to manage organ-specific damage.