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The central vein sign helps in differentiating multiple sclerosis from its mimickers: lessons from Fabry disease

  • Magnetic Resonance
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Abstract

Objectives

Although the use of specific MRI criteria has significantly increased the diagnostic accuracy of multiple sclerosis (MS), reaching a correct neuroradiological diagnosis remains a challenging task, and therefore the search for new imaging biomarkers is crucial.

This study aims to evaluate the incidence of one of the emerging neuroradiological signs highly suggestive of MS, the central vein sign (CVS), using data from Fabry disease (FD) patients as an index of microvascular disorder that could mimic MS.

Methods

In this retrospective study, after the application of inclusion and exclusion criteria, MRI scans of 36 FD patients and 73 relapsing–remitting (RR) MS patients were evaluated. Among the RRMS participants, 32 subjects with a disease duration inferior to 5 years (early MS) were also analyzed. For all subjects, a Fazekas score (FS) was recorded, excluding patients with FS = 0. Different neuroradiological signs, including CVS, were evaluated on FLAIR T2-weighted and spoiled gradient recalled echo sequences.

Results

Among all the recorded neuroradiological signs, the most striking difference was found for the CVS, with a detectable prevalence of 78.1% (57/73) in RRMS and of 71.4% (25/32) in early MS patients, while this sign was absent in FD (0/36).

Conclusions

Our results confirm the high incidence of CVS in MS, also in the early phases of the disease, while it seems to be absent in conditions with a different etiology. These results corroborate the possible role of CVS as a useful neuroradiological sign highly suggestive of MS.

Key Points

• The search for new imaging biomarkers is crucial to achieve a correct neuroradiological diagnosis of MS.

• The CVS shows an incidence superior to 70% in MS patients, even in the early phases of the disease, while it appears to be absent in FD.

• These findings further corroborate the possible future central role of CVS in distinguishing between MS and its mimickers.

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Abbreviations

APS:

Antiphospholipid syndrome

CVS:

Central vein sign

DMT:

Disease-modifying therapy

EDSS:

Expanded Disability Status Scale

ERT:

Enzymatic replacement therapy

FD:

Fabry disease

FLAIR:

Fluid attenuated inversion recovery

MPRAGE:

Magnetization prepared rapid gradient echo

MS:

Multiple sclerosis

RRMS:

Relapsing-remitting multiple sclerosis

SLE:

Systemic lupus erythematosus

SPGR:

Spoiled gradient recalled echo

WM:

White matter

WMLs:

White matter lesions

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Funding

The authors state that this work has not received any funding.

Author information

Author notes

  1. Mario Tranfa and Mario Tortora contributed equally to this work.

Authors and Affiliations

  1. Department of Advanced Biomedical Sciences, University “Federico II”, Via Pansini, 5, 80131, Naples, Italy

    Mario Tranfa, Mario Tortora, Giuseppe Pontillo, Arturo Brunetti & Sirio Cocozza

  2. Department of Electrical Engineering and Information Technology, University of Naples “Federico II”, Naples, Italy

    Giuseppe Pontillo

  3. Department of Neurosciences and Reproductive and Odontostomatological Sciences, University of Naples “Federico II”, Naples, Italy

    Valentina Iuzzolino, Roberta Lanzillo, Vincenzo Brescia Morra & Maria Petracca

  4. Institute for Biomedical Research and Innovation, National Research Council of Italy (IRIB CNR), Palermo, Italy

    Eleonora Riccio

  5. Department of Public Health, Nephrology Unit, University “Federico II”, Naples, Italy

    Simona Caccavallo, Teodolinda Di Risi & Antonio Pisani

  6. CEINGE - Advanced Biotechnologies, Naples, Italy

    Teodolinda Di Risi

  7. Institute of Biostructure and Bioimaging, National Research Council, Naples, Italy

    Serena Monti & Giuseppe Palma

  8. Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy

    Maria Petracca

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  1. Mario Tranfa
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  2. Mario Tortora
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Corresponding author

Correspondence to Giuseppe Pontillo.

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Guarantor

The scientific guarantor of this publication is S.C.

Conflict of interest

S.C. received speaker fees from Sanofi and Amicus Therapeutics and a Research Grant from FISM (Fondazione Italiana Sclerosi Multipla).

The remaining authors of this manuscript declare no relationships with any companies, whose products or services may be related to the subject matter of the article.

Statistics and biometry

One of the authors (S.C.) has significant statistical expertise.

Informed consent

Written informed consent was obtained from all subjects (patients) in this study.

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Institutional Review Board approval was obtained.

Methodology

• retrospective

• observational

• performed at one institution

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Tranfa, M., Tortora, M., Pontillo, G. et al. The central vein sign helps in differentiating multiple sclerosis from its mimickers: lessons from Fabry disease. Eur Radiol 32, 3846–3854 (2022). https://doi.org/10.1007/s00330-021-08487-4

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  • DOI: https://doi.org/10.1007/s00330-021-08487-4

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