Journal Article

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

Biondi, Federico, Burzotta, Francesco, Lillo, Rosa, Tocci, Giampaolo, Luceri, Stefania, Meucci, Maria Chiara, Parisi, Valentina, Agricola, Eustachio, di Spigno, Francesco, Di Brango, Claudio, Musella, Francesca, Giordana, Francesca, Lombardi, Mariaelena, Truong, Li Van Stella, Matrone, Benedetta, Spoladore, Roberto, Carugo, Stefano, Calcagnino, Margherita, Guido, Vincenzo, Graziani, Francesca, Melita, Veronica, Scardovi, Angela Beatrice, Calabrò, Paolo, Pariggiano, Ivana

2025

Overview

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.

• Publisher: MDPI AG
• Subject: awareness / Cardiology / Cardiomyopathy / Clinical medicine / Electrocardiography / Enzymes / fabry disease / Genetic testing / Hypertension / hypertrophic cardiomyopathy / Intervention / Ischemia / Kidney diseases / Pacemakers / Patients / Physicians / rare disease / Rare diseases / renal failure / Stroke / Womens health