Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis?

Petra Rekova,Ivana Kovarova,Tomas Uher,Barbora Srpova,Gabriela Dostalova,Ales Linhart,Manuela Vaneckova,Dominika Stastna

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology（2023）

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摘要

The prevalence of FD in the population of suspected or definite MS patients does not appear to be high. Our results do not support routine FD screening in all patients with a possible diagnosis of MS, but there is an urgent need to search for red flags and include FD in the differential diagnosis of MS.

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关键词

Fabry disease, A variant of unknown significance, Multiple sclerosis, Misdiagnosis, Screening, Differential diagnosis

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