Misdiagnosis and diagnostic delay in non-paraneoplastic sensory neuronopathies / Erro e atraso diagnóstico nas neuronopatias sensitivas não paraneoplásicas

ABSTRACT Sensory neuronopathies (SN) are a group of peripheral nerve disorders characterized by multifocal non-length-dependent sensory deficits and sensory ataxia. Its recognition is essential not only for proper management but also to guide the etiological investigation. The uncommon SN clinical picture and its rarity set the conditions for the misdiagnosis and the diagnostic delay, especially in non-paraneoplastic SN. Therefore, our objectives were to characterize the diagnostic odyssey for non-paraneoplastic SN patients, as well as to identify possible associated factors. Methods We consecutively enrolled 48 non-paraneoplastic SN patients followed in a tertiary neuromuscular clinic at the University of Campinas (Brazil). All patients were instructed to retrieve their previous medical records, and we collected the data regarding demographics, disease onset, previous incorrect diagnoses made and the recommended treatments. Results There were 34 women, with a mean age at the diagnosis of 45.9 ± 12.2 years, and 28/48 (58%) of the patients were idiopathic. Negative sensory symptoms were the heralding symptoms in 25/48 (52%); these were asymmetric in 36/48 (75%) and followed a chronic course in 35/48 (73%). On average, it took 5.4 ± 5.3 years for SN to be diagnosed; patients had an average of 3.4 ± 1.5 incorrect diagnoses. A disease onset before the age of 40 was associated to shorter diagnosis delay (3.7 ± 3.4 vs. 7.8 ± 6.7 years, p = 0.01). Conclusions These results suggest that diagnostic delay and misdiagnosis are frequent in non-paraneoplastic SN patients. As in other rare conditions, increased awareness in all the healthcare system levels is paramount to ensure accurate diagnosis and to improve care of these patients.

RESUMO As neuronopatias sensitivas (NS) representam um grupo de doenças caracterizadas por ataxia sensitiva e déficits sensitivos multifocais e não-comprimento dependentes. O seu reconhecimento é fundamental para o tratamento apropriado e para a investigação de doenças associadas. O quadro clínico pouco frequente aliado à baixa prevalência, especialmente das formas não-paraneoplásicas (NSnp), colaboram para o atraso e erro no diagnóstico. Os objetivos desse trabalho são descrever a odisseia diagnóstica dos pacientes com NSnp e tentar identificar possíveis fatores associados. Métodos Foram incluídos consecutivamente 48 pacientes com NSnp acompanhados no ambulatório de doenças neuromusculares da Universidade Estadual de Campinas (Brasil). Dados demográficos e sobre o início da NS (incluindo diagnósticos que lhes foram dados e tratamentos prescritos) foram coletados. Resultados Na coorte descrita havia 34 mulheres e a idade ao diagnóstico era de 45,9 ± 12,2 anos. Os sintomas inaugurais eram sensitivos deficitários em 25/48 (52%) dos pacientes, sendo assimétricos em 36/48 (75%) e de evolução crônica em 35/48 (73%). Para 28/48 (58%) dos pacientes a NS era idiopática. Em média, os pacientes com NSnp tiveram um atraso diagnóstico de 5,4 ± 5,3 anos com uma média de 3,4 ± 1,5 diagnósticos incorretos. Pacientes com início antes dos 40 anos tiveram diagnóstico mais precoce que aqueles com início tardio (3,7 ± 3,4 vs. 7,8 ± 6,7 anos, p = 0,01). Conclusão Os dados ora apresentados sugerem que o erro e o atraso diagnóstico são frequentes e impactam os pacientes com NS. A importância do diagnóstico das NS deve ser constante em todos os níveis do sistema de saúde para o diagnóstico correto e a consequente melhora no cuidado a esses pacientes.

Discrepâncias clínico-patológicas e achados cardiovasculares em 409 autópsias consecutivas / Clinical and pathological discrepancies and cardiovascular findings in 409 consecutive autopsies

FUNDAMENTO: As discrepâncias entre os diagnósticos clínicos e em autópsia persistem em todo o mundo. OBJETIVO: Avaliamos as autópsias em um hospital-escola para analisar a precisão dos diagnósticos cardiovasculares clínicos em comparação aos achados post-mortem. MÉTODOS: As 409 autópsias consecutivas entre 2003 e 2006 foram analisadas em um hospital terciário de São José do Rio Preto, São Paulo (SP), Brasil. A comparação dos achados cardiovasculares clínicos e patológicos foi realizada por meio da classificação de discrepâncias de Goldman. RESULTADOS: A taxa de autópsia no hospital foi de 8 por cento. As causas cardiovasculares de óbito representavam 42,8 por cento (175 de 409 pacientes) dos diagnósticos de autópsia. Em 98 pacientes (56 por cento), houve discrepâncias significativas (classes I e II), o que representa uma grande proporção de diagnósticos equivocados de infarto mesentérico (84,6 por cento), infarto agudo do miocárdio (64,7 por cento), dissecção da aorta (64,2 por cento) e embolia pulmonar (62,5 por cento). Foram observadas maiores taxas de concordância para a insuficiência cardíaca congestiva (59 por cento) e para o acidente vascular cerebral isquêmico agudo (58,8 por cento). A idade, o sexo, o tempo de permanência e a última unidade de admissão no hospital não foram associados aos critérios de Goldman. CONCLUSÃO: As discrepâncias dos diagnósticos clínicos e em autópsia relativos à morte cardiovascular permanecem elevados no Brasil, a despeito dos recursos tecnológicos disponíveis. Além disso, nossos achados reforçam a importância do exame post-mortem como uma contribuição para a melhoria da assistência médica.

BACKGROUND: Discrepancies between clinical and autopsy diagnoses persists worldwide. OBJECTIVE: We evaluated autopsies in a university hospital in order to assess the accuracy of clinical cardiovascular diagnosis compared to postmortem findings. METHODS: Four hundred nine consecutive autopsies between 2003 and 2006 were analyzed in a tertiary-care hospital in São José do Rio Preto, SP, Brazil. The comparison of clinic-pathological cardiovascular findings was performed using Goldman's discrepancies classification. RESULTS: Autopsy rate at the hospital was 8 percent. Cardiovascular causes of death represented 42.8 percent (175 out of 409 patients) of autopsy diagnoses. In 98 (56 percent) patients, there were major discrepancies (class I and II), representing a large proportion of misdiagnoses for mesenteric infarction (84.6 percent), acute myocardial infarction (64.7 percent), aorta dissection (64.2 percent), and pulmonary embolism (62.5 percent). Highest concordance rates were observed in congestive heart failure (59 percent) and acute ischemic stroke (58.8 percent). Age, sex, length of stay and the last admission unit at the hospital were not associated with Goldman criteria. CONCLUSION: Clinic-autopsy discrepancies concerning cardiovascular death remain high in Brazil, despite technological resources available. Moreover, our findings reinforce the importance of postmortem examination in contributing to medical care improvement.

Clinico-pathological discrepancies in a general university hospital in São Paulo, Brazil

INTRODUCTION: The autopsy rate has continuously diminished over the past few decades, reducing the quality of medical care and the accuracy of statistical health data. OBJECTIVE: To assess the accuracy of clinical diagnoses by comparing pre- and postmortem findings, and to identify potential risk factors for misdiagnoses. METHODS: Retrospective evaluations performed between June 2001 and June 2003 in a 2500-bed tertiary university hospital in São Paulo, Brazil, including 288 patients who died at that institution and had a postmortem examination. RESULTS: Clinical and autopsy records were reviewed and compared for categorization using the adapted Goldman criteria. The overall major and minor discrepancy rates were 16.3 percent and 28.1 percent, respectively. The most common missed diagnoses were pulmonary embolism, pneumonia, and myocardial infarction, and the most prevalent underlying diseases were infectious diseases, cerebro-cardiovascular conditions, and malignancies. Patients age 60 or older had an increased risk of diagnostic disagreement, as did female patients. The period of hospitalization, last admission unit at the hospital and underlying disease were not significantly related to the pre-mortem diagnostic accuracy. DISCUSSION: The discrepancy rate found in this study is similar to those reported globally. The factors influencing diagnostic accuracy as well as the most commonly missed diagnoses are also consistent with the literature. CONCLUSION: Autopsy remains a crucial tool for improving medical care, and effort must be focused on increasing its practice worldwide.

Errores frecuentes en la toma del caso / Frequent errors in the homeopathic diagnostic formulation

Se detallan y clasifican las circunstancias que con mayor frecuencia pueden causar errores en la formulación diagnóstica homeopática de un caso, entendiéndose que éstas pueden obedecer en responsabilidad 1) al paciente; 2) al médico ó 3) a la relación médico-paciente