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Misdiagnosis and diagnostic pitfalls of chronic inflammatory demyelinating polyradiculoneuropathy
Merel C Broers1, Carina Bunschoten1, Judith Drenthen2
1Department of Neurology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Background And Purpose:
The aim of this study was to determine the frequency of over- and underdiagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and to identify related diagnostic pitfalls.
Methods:
We conducted a retrospective study in Dutch patients referred to the Erasmus University Medical Centre Rotterdam between 2011 and 2017 with either a diagnosis of CIDP or another diagnosis that was revised to CIDP. We used the European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) 2010 diagnostic criteria for CIDP to classify patients into three groups: overdiagnosis, underdiagnosis, or confirmed diagnosis of CIDP. Clinical and laboratory features and treatment history were compared between groups.
Results:
A referral diagnosis of CIDP was revised in 32% of patients (31/96; overdiagnosis). Of 81 patients diagnosed with CIDP, 16 (20%) were referred with another diagnosis (underdiagnosis). In the overdiagnosed patients, 20% of muscle weakness was asymmetric, 48% lacked proximal muscle weakness, 29% only had distal muscle weakness, 65% did not fulfil the electrodiagnostic criteria for CIDP, 74% had an elevated cerebrospinal fluid (CSF) protein level, and 97% had another type of neuropathy. In the underdiagnosed patients, all had proximal muscle weakness, 50% had a clinically atypical CIDP, all fulfilled the electrodiagnostic criteria for CIDP, and 25% had an increased CSF protein level.
Conclusion:
Over- and underdiagnosis of CIDP is common. Diagnostic pitfalls include lack of attention to proximal muscle weakness as a diagnostic hallmark of CIDP, insufficient recognition of clinical atypical phenotypes, overreliance on CSF protein levels, misinterpretation of nerve conduction studies and poor adherence to electrodiagnostic criteria, and failure to exclude other causes of polyneuropathy.
Insights
Over- and underdiagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) are frequent, affecting 32% and 20% of patients, respectively. Diagnostic pitfalls include misinterpreting electrodiagnostic criteria and overlooking key clinical features of CIDP.
Area of Science:
- Neurology
- Clinical Diagnostics
Background:
- Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a complex neurological disorder.
- Accurate diagnosis of CIDP is crucial for effective treatment and patient outcomes.
Purpose of the Study:
- To determine the frequency of CIDP overdiagnosis and underdiagnosis.
- To identify diagnostic pitfalls associated with CIDP.
Main Methods:
- Retrospective study of Dutch patients referred to Erasmus University Medical Centre Rotterdam (2011-2017).
- Utilized European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) 2010 diagnostic criteria for CIDP.
- Classified patients into overdiagnosis, underdiagnosis, or confirmed CIDP groups for comparative analysis.
Main Results:
- 32% of referred CIDP diagnoses were revised (overdiagnosis).
- 16% of patients diagnosed with CIDP were referred with another condition (underdiagnosis).
- Overdiagnosed CIDP cases often lacked typical electrodiagnostic findings and presented with atypical neuropathy types.
Conclusions:
- Over- and underdiagnosis of CIDP are common occurrences.
- Key diagnostic pitfalls include misinterpreting electrodiagnostic criteria, overlooking proximal muscle weakness, and failing to exclude alternative neuropathies.
- Improved adherence to diagnostic criteria and clinical assessment are essential for accurate CIDP diagnosis.
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