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Volume 15
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This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Article

How to Enhance Diagnosis in Fabry Disease: The Power of Information

by
Maria Chiara Meucci
1,
Rosa Lillo
1,2,
Margherita Calcagnino
3,
Giampaolo Tocci
4,
Eustachio Agricola
5,
Federico Biondi
5,
Claudio Di Brango
1,
Vincenzo Guido
6,
Valentina Parisi
7,
Francesca Giordana
8,
Veronica Melita
9,
Mariaelena Lombardi
10,
Angela Beatrice Scardovi
11,
Li Van Stella Truong
12,
Francesca Musella
13,
Francesco di Spigno
14,
Benedetta Matrone
14,
Ivana Pariggiano
15,
Paolo Calabrò
15,
Roberto Spoladore
16,
Stefania Luceri
17,
Stefano Carugo
3,18,
Francesca Graziani
1,* and
Francesco Burzotta
1,2add Show full author list remove Hide full author list
1
Department of Cardiovascular Sciences-CUORE, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy
2
Department of Cardiovascular and Pneumological Sciences, Catholic University of the Sacred Heart, 00168 Rome, Italy
3
3 Department of Cardio-Thoracic-Vascular Diseases, Foundation IRCCS Ca’ Grande Ospedale Maggiore Policlinico, 20122 Milan, Italy
4
4 Division of Cardiology, Ospedale Sandro Pertini di Roma, 00157 Rome, Italy
5
5 Cardiovascular Imaging Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy
6
6 Division of Cardiology, Ospedale GB Grassi, 00122 Rome, Italy
7
7 Department of Translational Medical Sciences, University of Naples Federico II, 80138 Naples, Italy
8
8 Division of Cardiology, Ospedale Santa Croce e Carle, 12100 Cuneo, Italy
9
9 Unit of intensive and interventional Cardiology, Presidio Ospedaliero San Filippo Neri, 00135 Rome, Italy
10
10 Unit of Cardiology, Azienda Ospedaliera San Giovanni Addolorata Britannico, 00184 Rome, Italy
11
Division of Cardiology, Ospedale Santo Spirito, 00193 Rome, Italy
12
12 Unit of Cardiology, Ospedale di Belluno, 32100 Belluno, Italy
13
Division of Cardiology, Ospedale Santa Maria Delle Grazie, 80078 Napoli, Italy
14
14 Division of Cardiology, Ospedale Guglielmo da Saliceto, 29121 Piacenza, Italy
15
Division of Cardiology, Azienda Ospedaliera Sant’Anna and San Sebastiano, 81100 Caserta, Italy
16
Division of Cardiology, Alessandro Manzoni Hospital, 23900 Lecco, Italy
17
17 Division of Cardiology, Azienda Ospedaliera Mauriziano di Torino, 10128 Torino, Italy
18
18 Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy
 
add Show full affiliation list
 
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*
Author to whom correspondence should be addressed.
Cardiogenetics 2025, 15(3), 21; https://doi.org/10.3390/cardiogenetics15030021
Submission received: 11 June 2025 / Revised: 9 July 2025 / Accepted: 14 July 2025 / Published: 31 July 2025
(This article belongs to the Section Education in Cardiogenetics)
Versions Notes

Abstract

Background: Cardiac involvement is common in Fabry disease (FD) and typically manifests with left ventricular hypertrophy (LVH). Patients with FD are frequently misdiagnosed, and this is mainly related to the lack of disease awareness among clinicians. The aim of this study was to determine whether providing a targeted educational intervention on FD may enhance FD diagnosis. Methods. This research was designed as a single-arm before-and-after intervention study and evaluated the impact of providing a specific training on FD to cardiologists from different Italian centers, without experience in rare diseases. In the 12-month period after the educational intervention, the rate of FD screening and diagnosis was assessed and compared with those conducted in the two years preceding the study initiation. Results: Fifteen cardiologists participated to this study, receiving a theoretical and practical training on FD. In the two previous two years, they conducted 12 FD screening (6/year), and they did not detect any cases of FD. After the training, they performed 45 FD screenings, with an eight-fold rise in the annual screening rate. The screened population (age: 61 ± 11 years, men: 82%) was mainly composed of patients with unexplained LVH (n = 43). There were four new FD diagnoses and, among of them, three had a late-onset GLA variant. After the cascade genetic screening, 11 affected relatives and 8 heterozygous carriers were also detected. Conclusions: A targeted educational intervention for cardiologists allowed the identification of four new families with FD. Enhancing FD awareness is helpful to reduce the diagnostic and therapeutic delay.
Keywords: fabry disease; awareness; hypertrophic cardiomyopathy; rare disease; renal failure fabry disease; awareness; hypertrophic cardiomyopathy; rare disease; renal failure

Share and Cite

MDPI and ACS Style

Meucci, M.C.; Lillo, R.; Calcagnino, M.; Tocci, G.; Agricola, E.; Biondi, F.; Di Brango, C.; Guido, V.; Parisi, V.; Giordana, F.; et al. How to Enhance Diagnosis in Fabry Disease: The Power of Information. Cardiogenetics 2025, 15, 21. https://doi.org/10.3390/cardiogenetics15030021

AMA Style

Meucci MC, Lillo R, Calcagnino M, Tocci G, Agricola E, Biondi F, Di Brango C, Guido V, Parisi V, Giordana F, et al. How to Enhance Diagnosis in Fabry Disease: The Power of Information. Cardiogenetics. 2025; 15(3):21. https://doi.org/10.3390/cardiogenetics15030021

Chicago/Turabian Style

Meucci, Maria Chiara, Rosa Lillo, Margherita Calcagnino, Giampaolo Tocci, Eustachio Agricola, Federico Biondi, Claudio Di Brango, Vincenzo Guido, Valentina Parisi, Francesca Giordana, and et al. 2025. "How to Enhance Diagnosis in Fabry Disease: The Power of Information" Cardiogenetics 15, no. 3: 21. https://doi.org/10.3390/cardiogenetics15030021

APA Style

Meucci, M. C., Lillo, R., Calcagnino, M., Tocci, G., Agricola, E., Biondi, F., Di Brango, C., Guido, V., Parisi, V., Giordana, F., Melita, V., Lombardi, M., Scardovi, A. B., Truong, L. V. S., Musella, F., di Spigno, F., Matrone, B., Pariggiano, I., Calabrò, P., ... Burzotta, F. (2025). How to Enhance Diagnosis in Fabry Disease: The Power of Information. Cardiogenetics, 15(3), 21. https://doi.org/10.3390/cardiogenetics15030021

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