Role of serial cardiac 18F-FDG PET-MRI in Anderson\u2013Fabry disease: a pilot study

Carmela Nappi,Maurizio Pieroni,Alberto Cuocolo,Emanuele Nicolai,Wanda Acampa,Michele Klain,Teodolinda Di Risi,Letizia Spinelli,Andrea Ponsiglione,Roberta Assante,Massimo Imbriaco,Antonio Pisani,Eleonora Riccio

doi:10.1186/s13244-021-01067-6

Abstract

AimWe investigated the value of serial cardiac 18F-FDG PET-MRI in Anderson–Fabry disease (AFD) and the potential relationship of imaging results with FASTEX score.Methods and resultsThirteen AFD patients underwent cardiac 18F-FDG PET-MRI at baseline and follow-up. Coefficient of variation (COV) of FDG uptake and FASTEX score were assessed. At baseline, 9 patients were enzyme replacement therapy (ERT) naïve and 4 patients were under treatment. Two patients presented a FASTEX score of 0 indicating stable disease and did not show any imaging abnormality at baseline and follow-up PET-MRI. Eleven patients had a FASTEX score > 20% indicating disease worsening. Four of these patients without late gadolinium enhancement (LGE) and with normal COV at baseline and follow-up had a FASTEX score of 35%. Three patients without LGE and with abnormal COV at baseline and follow-up had a FASTEX score ranging from 30 to 70%. Three patients with LGE and abnormal COV at baseline and follow-up had a FASTEX score between 35 and 75%. Finally, one patient with LGE and normal COV had a FASTEX score of 100%. Of the 12 patients on ERT at follow-up, FASTEX score was significantly higher in those 4 showing irreversible cardiac injury at baseline compared to 8 with negative LGE (66 ± 24 vs. 32 ± 21, p = 0.03).Conclusion18F-FDG PET-MRI may be effective to monitor cardiac involvement in AFD.

Highlights

Anderson–Fabry disease (AFD) is a rare, X-linked, lysosomal disorder caused by mutations in the GLA gene encoding for the enzyme alpha-galactosidase A [1]
We investigated the role of serial cardiac 18F-FDG positron emission tomography (PET)-magnetic resonance imaging (MRI) in AFD and the potential relationship of imaging results with the FASTEX score
In the remaining 6 patients with normal 18F-FDG PET-MRI findings at baseline, no evidence of cardiac involvement was observed at follow-up, during enzyme replacement therapy (ERT)

Summary

Introduction

Anderson–Fabry disease (AFD) is a rare, X-linked, lysosomal disorder caused by mutations in the GLA gene encoding for the enzyme alpha-galactosidase A [1]. The consequent enzymatic deficiency causes progressive lysosomal accumulation of glycosphingolipids, in particular globotriaosylceramide (Gb3), in different cellular types and tissues [2]. Storage occurs in several organspecific cellular types, systemic accumulation in capillary endothelial cells has been demonstrated to play a major role in the pathological processes leading to major renal, cardiac and cerebrovascular clinical manifestations and to a significant reduction in life expectancy [3, 4]. Nappi et al Insights Imaging (2021) 12:124 therapy (ERT) initiation before the occurrence of irreversible organ injury determines a more favourable outcome while in patients with cardiac mature fibrosis, full-blown impaired renal function and proteinuria, the efficacy of ERT seems more limited [7]. The timing of optimal ERT initiation to prevent tissue damage and organ function impairment is still debated [8, 9]

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Conclusion