Case study reveals cardiac involvement in systemic sclerosis without classic antibodies, highlighting diagnosis beyond testing.
Systemic sclerosis (SSc) is an autoimmune rheumatic disease marked by excessive extracellular matrix deposition, causing fibrosis, endothelial dysfunction, and microvascular injury. There are two major types of SSc, limited and diffuse. SSc can affect any organ, leading to dysfunction and failure. The esophagus, kidneys, heart, and lungs are commonly affected. We report a case of a male patient who was diagnosed with scleroderma despite the absence of the classic antibodies and a subsequent presentation with cardiac involvement. This case highlights a rare presentation of seronegative SSc, emphasizing that diagnosis may extend beyond antibody testing. Additionally, it underscores the impact of cardiac involvement on patient morbidity and mortality.
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Mahen et al. (2025) studied this question.
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