Scleroderma

Scleroderma is a complex and multifaceted disease in which dysregulated immunity, fibrosis, and vasculopathy converge to cause serious morbidity. This can include irreversible damage to the gastrointestinal tract, lungs, heart, and kidneys. For this reason, it is crucial that the illness be recognized by primary care physicians (PCPs) in its earliest possible stages, leading to timely specialty referral. In addition, PCPs play an essential role in co-managing the many life-altering symptoms that patients experience. Key clinical features of scleroderma include Raynaud’s phenomenon, tightening and thickening of the skin, and gastrointestinal dysmotility. Additional important symptoms and signs, such as shortness of breath, exercise intolerance, fatigue, joint pain, and muscle weakness, are nonspecific and may not be readily recognized as part of the overall disease process; hence, a high index of suspicion is required. This chapter will review the distinct phenotypic subsets of scleroderma that have been described and the relevant serologic markers that may aid in diagnosis and prognosis.