Scleroderma, 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 (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasis) syndrome [2]. Within the CREST syndrome spectrum of diseases exist numerous associated complications and conditions.

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. Currently, only a few case reports exist documenting this relatively rare but recognized complication. Typically, gastrointestinal (GI) complications seen in CREST syndrome involve the esophagus; however, evolving data are demonstrating that concomitant distal GI pathologies are extremely common [3-6], as exemplified by this case.

We complied with all applicable laws and regulations concerning the privacy and security of patient personal information, including, but not limited to, the Health Insurance Portability and Accountability Act of 1996 and other US federal and state laws relating to the privacy and security of personally identifiable information. The patient provided her expressed and written consent for case report publication, with the family and coauthors present. Written consent was in accordance with the standardized hospital consent form. This case report was fully observational in nature and exempt from institutional review board approval.

While up to 90% of patients with scleroderma are found to have some form of GI involvement, only 50% report symptom manifestation [7]. Notwithstanding that 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 [3,7,8], as seen in our patient. Limited data exist relating to the correlation between the extent of disease and mortality; however, 1 study found that approximately 10% of deaths related to scleroderma were due to GI complications [9]. While many studies have demonstrated unfavorable patient outcomes relating to the lung and cardiac manifestations of the disease, GI involvement, particularly distal to the esophagus, portends poor survival [9,10]. While our patient’s definitive cardiac condition could not be determined, her history of open-heart surgery and use of the vagus nerve pacemaker may have been related to her scleroderma. Myocardial and vascular compromise has been well documented in patients with scleroderma, possibly accounting for the additional surprising feature of our patient being persistently hypertensive, even while septic [8].

Oropharyngeal dysphagia and deglutination abnormalities are found in up to 25% of patients with scleroderma [10]. Our patient’s exceptionally difficult airway may have reasonably been explained by these abnormalities. The patient was found to have extensive edema to the oropharynx and proximal larynx, refractory to high-dose steroids. Furthermore, the patient had repeated episodes of postextubation upper airway swelling, necessitating multiple reintubations.

In addition to the aforementioned complications, the patient also experienced several refractory and intractable infections. A possible explanation relates to findings from a study in 2022 by Kristofer et al [11], which explored the dysbiosis seen in many patients with scleroderma. The interplay between the hyperactive immune cells in the gut and the microbiome may have been responsible for many previously unexplained complications in patients with scleroderma [11]. Further compounding the interplay is the ubiquitous microvasculopathy and gut wall damage seen in scleroderma [8]. This patient’s extensive and prolonged hospital course could possibly be attributed to her underlying pathology, especially when considering the high mortality and morbidity associated with surgically repaired bowel perforations [12]. Bowel perforations that require surgery in otherwise healthy patients have been found to have an overall mortality rate of 10% to 15% and a morbidity rate of 20% to 30% [12].

While much research exists regarding esophageal complications in patients with scleroderma, it is crucial for the clinician to consider the extremely high rates of extraesophageal 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 for patients who are not being treated for their disease, as was the case with our patient. Additionally, physicians managing patients with scleroderma ensuing to an ED encounter must anticipate the multitude of complications that can occur. Preemptively involving surgical and anesthesia teams early in the inpatient course is both reasonable and appropriate. Additionally, early multidisciplinary inpatient involvement with infectious disease and rheumatology is crucial for outcome optimization. While the focus of this paper was on the relatively rare complication of spontaneous intestinal perforation, the secondary objective was to illuminate the possibility of many others.