Epigastric discomfort in a young woman: unveiling a case of CREST syndrome

Abstract

Introduction and Importance: CREST syndrome is a clinical condition, seen in relation with systemic sclerosis, which meets at least three of its five clinical features: calcinosis, Raynaud’s phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia. Three of these clinical features (Raynaud’s phenomenon, sclerodactyly and esophageal dysmotility) are often present in classical subsets of SSc: limited and diffuse, and their presence alone in association does not define CREST syndrome. The laboratory findings (autoimmunity) are the most crucial for diagnosis. Hence, a comprehensive clinical assessment, autoimmune investigations should be performed to make the final diagnosis of CREST Syndrome, as per the criteria states. We describe a case involving a 34-years-old female who was diagnosed with CREST Syndrome during medical evaluation of her epigastric discomfort. Case Presentation: We present the case of a 34-year-old female, presented with clinical cutaneous and gastrointestinal manifestations along with autoantibody production when investigated, which was compatible with the diagnosis of a limited form of systemic sclerosis (SSc), CREST Syndrome. Clinical Discussion: In the absence of a diagnostic test to prove the absence or presence of SSc, the diagnosis is based on a combination of clinical and laboratory findings. Thus, a detailed clinical history and careful physical examination are required. With regard to the diagnosis, an updated classification criteria for SSc as published by ACR/EULAR in 2013 is used and helped us to reach the final diagnosis. Conclusion: CREST syndrome, a rare clinical entity, warrants consideration by primary physicians while evaluating it. Despite its rarity, inclusion in differentials is essential to prevent worsening of the condition and having further complications. Heightened awareness among healthcare providers is pivotal for prompt recognition and appropriate management.