Premature diagnostic closure: An avoidable type of error

Vázquez-Costa, M.; Costa-Alcaraz, Ana M.

doi:10.1016/j.rceng.2012.05.001

Cited by 5 publications

(3 citation statements)

References 23 publications

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“…Second, the diagnostic process was impeded by ‘well appearance’ of the patients or absence of typical symptoms, which also produced ‘misdiagnosis and misunderstanding’ and consequent labelling of patients as having psychiatric or psychosomatic problems. In particular, individuals with helicobacter infections, chronic urticaria, or tropical infections are at risk of being misdiagnosed with psychiatric and/or psychosomatic disorders [ 28 – 30 ]. Adding to the complexity of the issue, adolescents with IEM or heterozygous carriers of the disorder might decompensate later in life with dementia or depression and metabolic diseases are not considered in patients with these psychological symptoms [ 31 , 32 -].…”

Section: Discussionmentioning

confidence: 99%

Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey

et al. 2017

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BackgroundWorldwide approximately 7,000 rare diseases have been identified. Accordingly, 4 million individuals live with a rare disease in Germany. The mean time to diagnosis is about 6 years and patients receive several incorrect diagnoses during this time. A multiplicity of factors renders diagnosing a rare disease extremely difficult. Detection of shared phenomena among individuals with different rare diseases could assist the diagnostic process. In order to explore the demand for diagnostic support and to obtain the commonalities among patients, a nationwide Delphi survey of centers for rare diseases and patient groups was conducted.MethodsA two-step Delphi survey was conducted using web-based technologies in all centers for rare diseases in Germany. Moreover, the leading patient support group, the German foundation for rare diseases (ACHSE), was contacted to involve patients as experts in their disease. In the survey the experts were invited to name rare diseases with special need for diagnostic improvement. Secondly, communal experiences of affected individuals were collected.Results166 of 474 contacted experts (35%) participated in the first round of the Delphi process and 95 of 166 (57%) participated in the second round. Metabolic (n = 74) and autoimmune diseases (n = 39) were ranked the highest for need for diagnostic support. For three diseases (i.e. scleroderma, Pompe’s disease, and pulmonary arterial hypertension), a crucial need for diagnostic support was explicitly stated. A typical experience of individuals with a rare disease was stigmatization of having psychological or psychosomatic problems. In addition, most experts endured an ‘odyssey’ of seeing many different medical specialists before a correct diagnosis (n = 38) was confirmed.ConclusionThere is need for improving the diagnostic process in individuals with rare diseases. Shared experiences in individuals with a rare disease were observed, which could possibly be utilized for diagnostic support in the future.

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Section: Discussionmentioning

confidence: 99%

Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey

et al. 2017

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“…In addition to being a rare diagnosis, this case represents an example of the effects of anchoring and availability heuristics that led to premature closure of the diagnosis of a urinary tract infection 12. We erroneously attributed uncontrolled infection without consideration of other organ systems despite a negative urinalysis, completion of a course of antibiotics and resolution of typical UTI symptoms.…”

Section: Discussionmentioning

confidence: 96%

“…Admittedly, the diagnosis of a splenic infarction is rare; however, a higher index of suspicion for splenic disease with left upper quadrant abdominal pain would have allowed us to expand our differential. We present this case both to outline the presentation of a rare clinical entity and to review the importance of avoiding premature closure through metacognition 12…”

Section: Discussionmentioning

confidence: 99%

Splenic infarction from vascular torsion in a child with normal splenic anatomy

Molina¹,

Smola

et al. 2019

BMJ Case Rep

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This is a case of an 8-year-old, Caucasian boy with a complex prior medical history who presented with worsening, acute, left-sided abdominal pain and fever after empiric treatment for a urinary tract infection. Repeat urinalysis was negative for infection. A renal ultrasound assessing for occult perinephric abscess or nephronia revealed normal kidneys but found a tubular structure adjacent to the left kidney. A CT scan further revealed a splenic infarction secondary to torsion. He had a surgical evaluation but was treated empirically with piperacillin/tazobactam for 10 days due to concern for infectious complications following splenic infarction. He had complete resolution of his pain and symptoms. He received routine vaccines for asplenia prior to being discharged home without any further sequelae.

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A Delayed Diagnosis of Chronic Mesenteric Ischaemia: The Role of Clinicians’ Cognitive Errors

Yeoh¹

2016

Case Rep Gastroenterol

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Chronic diarrhoeal illnesses with nausea and weight loss are a common indication for gastroenterology review. While many such cases have intra-luminal aetiologies, such as inflammatory bowel disease, coeliac disease or other malabsorptive conditions, with many other cases due to functional gut disorders or systemic malignancy, clinicians must also keep vascular disorders in mind. Here we report a patient with a delayed diagnosis of chronic mesenteric ischaemia after 6 months of gastrointestinal symptoms strongly mimicking an alternative diagnosis such as inflammatory bowel disease due an atypical predominance of nausea and diarrhoea rather than pain. We briefly review the literature on treatment of this condition but also discuss with particular attention the sequence of cognitive errors made by clinicians that led to a diagnostic delay, inviting readers to thus reflect on how such errors can be minimised in their practice.

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Premature diagnostic closure: An avoidable type of error

Cited by 5 publications

References 23 publications

Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey

Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey

Splenic infarction from vascular torsion in a child with normal splenic anatomy

A Delayed Diagnosis of Chronic Mesenteric Ischaemia: The Role of Clinicians’ Cognitive Errors

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