JMIR Publications

ABSTRACT

Background:

Scleroderma (SSc), sometimes more colloquially known as systemic sclerosis, is a group of autoimmune diseases that principally affects the skin, blood vessels, muscles, and viscera [1]. One of the more well-known subgroups of scleroderma is the limited cutaneous form of the multisystem connective tissue disorder known as CREST syndrome: calcinosis, Raynaud Phenomenon, Esophageal dysmotility, Sclerodactyly and Telangiectasis [2]. The focus of this paper will be to present a case of a spontaneous colonic bowel perforation in a patient with incomplete features of CREST.

Objective:

Currently, only a few case reports exist documenting this relatively rare, but recognized, complication. A brief explanation and overview of the complicated hospital and its relation to the patient's SSc will be discussed. While much research exists regarding the esophageal complications of scleroderma patients, it is crucial for the clinician to consider the extremely high rates of extra-esophageal GI involvement of the disease. This consideration may compel the emergency physician to have a lower threshold for additional testing and actions such as cross-sectional imaging, lab tests, and specialist consultations. This recommendation is particularly germane in patients who are not being treated for their disease, as was the case with our patient. Discussion: While esophageal complications have been the most reported GI-related feature, colonic involvement is found almost as frequently, particularly in patients with abnormal esophageal manometry studies, as seen in our patient. Limited data exists relating to the correlation of the extent of disease and mortality, however, one study found that approximately 10% of deaths related to SSc were due to GI complications, particularly SSc involvement distal to the esophagus. Our patient also suffered from several refractory and intractable infections. A possible explanation relates to findings from a study in February 2022 by Kristofer et al., exploring the dysbiosis seen in many SSc patients. The interplay between the hyperactive immune cells in the gut and the microbiome may have been responsible for many previously-unexplained complications in SSc patients Further compounding the interplay, is the ubiquitous microvasculopathy and gut wall damage seen in SSc. Conclusion and Recommendations: Our patient underwent a complicated hospital course involving broad spectrum antibiotic coverage, surgical hemicolectomy, and immunosuppressives. She was eventually discharged home with return to functional baseline status after esophageal dysmotility confirmation via manometry. Physicians managing SSc patients ensuing to the ED encounter must anticipate the multitude of complications that can occur, as was seen in our patient. The threshold for pursuing imaging and additional tests, in addition to admission, should be relatively low, given the extremely high rates of complications and mortality. Early multidisciplinary involvement with infectious disease, rheumatology, surgery, and other respective specialties are crucial for patient outcome optimization.