ArticlePloS one2013
Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 66 citations in OpenAlex.
- Aseptic meningitis and Fabry disease.Annals of clinical and translational neurology · 2024Pooled it
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Impact of migalastat on cerebral outcomes in fabry disease - results from the prospective observational FAMOUS trial.Neurological research and practice · 2025Article
- Genotype-Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype.Molecular genetics & genomic medicine · 2024Article
- Misdiagnosis of Multiple Sclerosis: Past, Present, and Future.Current neurology and neuroscience reports · 2024Review
- A Rare Case of Fabry's Disease-Induced Cardiomyopathy: A Case Report and Review of the Literature.Cureus · 2024Article
- Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Observational
- Progressive Changes in Cerebral Apparent Diffusion Values in Fabry Disease: A 5-Year Follow-up MRI Study.AJNR. American journal of neuroradiology · 2023Article
- How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Review
- The central vein sign helps in differentiating multiple sclerosis from its mimickers: lessons from Fabry disease.European radiology · 2022Article
- Neuroradiological differentiation of white matter lesions in patients with multiple sclerosis and Fabry disease.Orphanet journal of rare diseases · 2022Article
- MRI-visible perivascular spaces as an imaging biomarker in Fabry disease.Journal of neurology · 2021Article
- Relapsing Demyelinating Syndromes in Children: A Practical Review of Neuroradiological Mimics.Frontiers in neurology · 2020Review
- Case Report: A Spinal Ischemic Lesion in a 24-Year-Old Patient With Fabry Disease.Frontiers in immunology · 2020Article
- RECURRENT ATYPICAL OPTIC NEURITIS AS THE LEADING SIGN OF FABRY DISEASE.Acta clinica Croatica · 2019Article
- Differential Diagnosis of Pediatric Multiple Sclerosis.Children (Basel, Switzerland) · 2019Review
- Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations.The application of clinical genetics · 2019Review
- Stratification of patients with unclassified pain in the FabryScan database.Journal of pain research · 2019Article
- Neuroimaging in Fabry disease: current knowledge and future directions.Insights into imaging · 2018Review
- MULTIPLE SCLEROSIS OR FABRY DISEASE - PROS AND CONS.Acta clinica Croatica · 2018Article
Corrections and comments
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Authors and funding
9 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveFabry disease is a rare X-linked inherited lysosomal storage disorder affecting multiple organ systems. It includes central nervous system involvement via micro- and macroangiopathic cerebral changes. Due to its clinical symptoms and frequent MRI lesions, Fabry disease is commonly misdiagnosed as multiple sclerosis. We present an overview of cases from Fabry centres in Germany initially misdiagnosed with multiple sclerosis and report the clinical, MR-tomographical, and laboratory findings.
methodsEleven Fabry patients (one male, ten females) initially diagnosed with multiple sclerosis were identified from 187 patient records (5.9%) and analyzed for presenting symptoms, results of the initial diagnostic workup, and the clinical course of the disease.
resultsFour patients were identified as having a "possible" history of MS, and 7 patients as "definite" cases of multiple sclerosis (revised McDonald criteria). On average, Fabry disease was diagnosed 8.2 years (±9.8 years) after the MS diagnosis, and 12.8 years after onset of first symptoms (±10.3 years). All patients revealed white matter lesions on MRI. The lesion pattern and results of cerebrospinal fluid examination were inconsistent and non-specific. White matter lesion volumes ranged from 8.9 mL to 34.8 mL (mean 17.8 mL±11.4 mL). There was no association between extra-neurological manifestations or enzyme activity and lesion load.
conclusionThere are several anamnestic and clinical hints indicating when Fabry disease should be considered a relevant differential diagnosis of multiple sclerosis, e.g. female patients with asymmetric, confluent white matter lesions on MRI, normal spinal MR imaging, ectatic vertebrobasilar arteries, proteinuria, or lack of intrathecally derived immunoglobulin synthesis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.