Elsevier

Legal Medicine

Volume 17, Issue 1, January 2015, Pages 29-33
Legal Medicine

Case Report
Unexpected post-mortem diagnosis of systemic sclerosis presenting as pneumatosis intestinalis: Revised diagnostic criteria and medicolegal implications

https://doi.org/10.1016/j.legalmed.2014.08.005Get rights and content

Highlights

  • We present a case of systemic sclerosis diagnosed after death of unknown cause.

  • We propose applying clinical criteria to autopsy diagnosis of this disease.

  • We review additional histopathologic findings specific to this disease.

  • We explore pre- and post mortem medicolegal implications of this disease.

Abstract

Systemic sclerosis is a challenging diagnosis for clinicians and pathologists alike due to its protean manifestations and often insidious onset, particularly in cases without significant titres of auto-antibodies. Herein we present a case of a female in her sixties who died rapidly following a clinical diagnosis of pneumatosis intestinalis and respiratory failure of unclear etiology. Recently revised clinical diagnostic criteria were applied to the clinical history and postmortem findings to reach an unexpected diagnosis of systemic sclerosis. The diagnosis of systemic sclerosis at autopsy has important medicolegal implications largely related to premature death due to delayed treatment or poor post-operative outcome. Moreover, familial clustering of this disease underscores the importance of maintaining a high index of suspicion in the postmortem setting.

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

References (47)

  • A. Nicklin et al.

    Lethal manifestations of systemic lupus erythematosus in a forensic context

    J Forensic Sci

    (2011)
  • L.M. al-Alousi

    Medico-legal problems of ischaemic heart disease and myocardial infarction

    Med Sci Law

    (1990)
  • D. Kothari et al.

    Spontaneous coronary artery dissection in an adolescent man with systemic lupus erythematosus

    Intern Med J

    (2007)
  • M.K. Nisar et al.

    Spontaneous coronary artery dissection in the context of positive anticardiolipin antibodies and clinically undiagnosed systemic lupus erythematosus

    Lupus

    (2011)
  • A.K. Sharma et al.

    Spontaneous coronary artery dissection in a patient with systemic lupus erythematosis

    Hawaii Med J

    (2003)
  • J. Barnes et al.

    Epidemiology of systemic sclerosis: incidence, prevalence, survival, risk factors, malignancy, and environmental triggers

    Curr Opin Rheumatol

    (2012)
  • M. Graninger

    Medico-legal assessment of systemic sclerosis

    Z Rheumatol

    (2007)
  • G. Sahu et al.

    Romberg syndrome and medical negligence: a rare case

    Indian J Forensic Med Toxicol

    (2013)
  • J.W. Snyder

    Silicone breast implants. Can emerging medical, legal, and scientific concepts be reconciled?

    J Legal Med

    (1997)
  • H. Englert et al.

    Familial risk estimation in systemic sclerosis

    Austr N Z J Med

    (1999)
  • J.D. Reveille

    Ethnicity and race and systemic sclerosis: how it affects susceptibility, severity, antibody genetics, and clinical manifestations

    Curr Rheumatol Rep

    (2003)
  • T. Nakashima et al.

    An autopsy case of visceral scleroderma with lethal ileus

    Kurume Med J

    (1966)
  • G. Popa et al.

    Fingerprints evaluation in systemic sclerosis

    Rom J Legal Med

    (2010)
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