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Multiparametric magnetic resonance imaging of the liver and spleen in Gaucher disease

  • Hepatobiliary
  • Published:
Abdominal Radiology Aims and scope Submit manuscript

Abstract

Purpose

To assess liver and spleen characteristics of a population with Gaucher disease (GD) using multiparametric MRI and MR elastography (MRE) for evaluation of diffuse liver and spleen disease, which includes liver fat fraction, liver and spleen volume and iron deposition, and liver and spleen stiffness correlated with DS3 Severity Scoring System for Gaucher disease (GD-DS3).

Methods

We prospectively evaluated 41 patients with type 1 Gaucher disease using a 3.0 T MRI and MRE between January 2019 and February 2020. Clinical, laboratory, and imaging data was collected. Mann–Whitney, Kruskal–Wallis, and Spearman’s correlation were applied to evaluate liver and spleen MRI and MRE, clinical and laboratory variables, and GD-DS3. ERT and SRT treatment groups were compared.

Results

Hepatomegaly was seen in 15% and splenomegaly in 42% of the population. Moderate and strong and correlations were found between liver and spleen iron overload (rho = 0.537; p = 0.002); between liver and spleen volume (rho = 0.692, p < 0.001) and between liver and spleen stiffness (rho = 0.453, p = 0.006). Moderate correlations were found between liver stiffness and GD-DS3 (rho = 0.559; p < 0.001) and between splenic volume and GD-DS3 (rho = 0.524; p = 0.001).

Conclusion

The prevalence of hepatosplenomegaly, liver fibrosis, and liver iron overload in treated patients with GD is low, which may be related to the beneficial effect of treatment. Liver MRE and splenic volume correlate with severity score and may be biomarkers of disease severity.

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Acknowledgements

We thank Carolina Braz Parente for English revision.

Funding

This work was supported by D’Or Institute for Research and Education (IDOR) and Fundação de Amparo à Pesquisa do Estado do Rio de Janeiro (FAPERJ) (E_32/2014 – Apoio à realização de pesquisas clínicas e translacionais no RJ – FAPERJ/IDOR – 2014).

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Authors and Affiliations

  1. D’Or Institute for Research and Education, Rua Diniz Cordeiro, 30, 3º Andar. Botafogo., Rio de Janeiro, RJ, CEP 22281-100, Brazil

    Daniella Braz Parente, Fernanda Chagas Monteiro de Melo Malta, Renata Mello Perez & Rosana Souza Rodrigues

  2. Federal University of Rio de Janeiro, Cidade Universitária, Av. Professor Rodolpho Paulo Rocco 255. Ilha Do Fundão., Rio de Janeiro, RJ, CEP 21941-913, Brazil

    Daniella Braz Parente, Vivian Rotman, Renata Mello Perez & Rosana Souza Rodrigues

  3. Arthur de Siqueira Cavalcanti State Institute of Hematology: Hospital Hemorio, R. Frei Caneca, 8. Centro., Rio de Janeiro, RJ, CEP 20211-030, Brazil

    Renata de Souza Cravo

  4. Instituto de Estudos Em Saúde Coletiva, Federal University of Rio de Janeiro, Cidade Universitária, Ilha Do Fundão, Rio de Janeiro, CEP 21941-592, Brazil

    Ronir Raggio Luiz

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  1. Daniella Braz Parente
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Correspondence to Daniella Braz Parente.

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Parente, D.B., de Melo Malta, F.C.M., de Souza Cravo, R. et al. Multiparametric magnetic resonance imaging of the liver and spleen in Gaucher disease. Abdom Radiol (2024). https://doi.org/10.1007/s00261-024-04293-w

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  • DOI: https://doi.org/10.1007/s00261-024-04293-w

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