Case ReportUnexpected post-mortem diagnosis of systemic sclerosis presenting as pneumatosis intestinalis: Revised diagnostic criteria and medicolegal implications
Introduction
Collagen vascular disorders are a heterogeneous group of diseases which result in significant multi-system morbidity and an increased risk of premature death [1], [2], [3]. The forensic literature on these diseases has been largely centered on their lethal cardiac and pulmonary manifestations, with a focus on systemic lupus erythematosus and rheumatoid arthritis [4], [5], [6], [7], [8], [9]. A more limited yet significant body of literature explores the medicolegal issues arising in patients affected with systemic sclerosis (SSc), a relatively rare connective tissue disorder of unknown etiology, with an approximate prevalence of 250–450 cases per million persons [10]. In the living patient, a diagnosis of SSc has important medicolegal implications relating to claiming insurance benefits related to disability, as well as potentially significant malpractice claims secondary to unexpected outcomes in medical care [11], [12], [13].
An unexpected diagnosis of SSc at autopsy can have medicolegal repercussions relating to delays in diagnosis and treatment. In addition, there is now clear evidence that SSc tends to cluster within families and be associated with other autoimmune disorders in families of patients with SSc, which underscores the importance of this diagnosis for surviving family members [14], [15].
While there has been some investigations on the challenges of fingerprint based identification in decedents with SSc, formal reports on the post-mortem diagnosis of SSc are limited [16], [17], [18], [19] Given the heterogenous manifestations of SSc, delays in diagnosis and treatment are not unusual, leading to potentially critical illness and death of unclear etiology [20], [21]. Newly proposed diagnostic criteria from the American College of Rheumatology and the European League against Rheumatism (see discussion) have simplified the clinical diagnosis of systemic sclerosis and can aid pathologists in the diagnosis of SSc in the post mortem setting.
Herein we a case of unexpected SSc diagnosed at autopsy in a patient who suffered a rapid clinical demise of unclear etiology. While no direct legal action had been taken at the time this report was written, this case demonstrates the key elements of a post-mortem diagnosis of SSc while exploring the medicolegal implications of such a diagnosis.
Section snippets
Clinical history
A female in her sixties presented to a community hospital with persistent early satiety, associated with vomiting and generalized weakness. She described a 30 kg unintentional weight loss over the past year. The patient’s past medical history was significant for atrial fibrillation, hypothyroidism, sigmoid diverticulosis, and Raynaud’s phenomenon. This was her second presentation within the past month, having been diagnosed with severe esophageal reflux disease during the last visit. Blood work
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