Anderson-Fabry disease management: Role of the cardiologist

Maurizio Pieroni, Mehdi Namdar, Iacopo Olivotto, Robert J. Desnick

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations


Anderson-Fabry disease (AFD) is a lysosomal storage disorder characterized by glycolipid accumulation in cardiac cells, associated with a peculiar form of hypertrophic cardiomyopathy (HCM). Up to 1% of patients with a diagnosis of HCM indeed have AFD. With the availability of targeted therapies for sarcomeric HCM and its genocopies, a timely differential diagnosis is essential. Specifically, the therapeutic landscape for AFD is rapidly evolving and offers increasingly effective, disease-modifying treatment options. However, diagnosing AFD may be difficult, particularly in the non-classic phenotype with prominent or isolated cardiac involvement and no systemic red flags. For many AFD patients, the clinical journey from initial clinical manifestations to diagnosis and appropriate treatment remains challenging, due to late recognition or utter neglect. Consequently, late initiation of treatment results in an exacerbation of cardiac involvement, representing the main cause of morbidity and mortality, irrespective of gender. Optimal management of AFD patients requires a dedicated multidisciplinary team, in which the cardiologist plays a decisive role, ranging from the differential diagnosis to the prevention of complications and the evaluation of timing for disease-specific therapies. The present review aims to redefine the role of cardiologists across the main decision nodes in contemporary AFD clinical care and drug discovery.

Original languageEnglish
Pages (from-to)1395-1409
Number of pages15
JournalEuropean Heart Journal
Issue number16
StatePublished - 21 Apr 2024


  • Anderson-Fabry disease
  • Artificial intelligence
  • Gene therapy
  • Hypertrophic cardiomyopathy


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