Fabry disease (FD) is a rare X-linked hereditary lysosomal storage disease caused by deficient activity of the enzyme alpha-galactosidase A that leads to the accumulation of globotriasylceramide (Gb3) in affected tissues, including the heart, brain, and kidneys. In FD, cardiac damage begins early and progresses subclinically before the appearance of symptoms and generally manifests as left ventricular hypertrophy simulating hypertrophic cardiomyopathy (HCM). Recent studies have demonstrated a prevalence of FD of up to 5% in patients whose initial diagnosis was HCM. After the introduction of enzyme replacement therapy, FD deserves special attention in the differential diagnosis in patients with unexplained ventricular hypertrophy and HCM, as it is a heart disease that requires specific treatment. However, early diagnosis and treatment are essential to prevent the progression of the disease by reducing cardiovascular event rates.^–

With the aim of investigating the clinical and exam differences between HCM and DF, the study of Akhan et al. retrospectively evaluated 60 patients with HCM and 40 with FD. In this population, with a similar average age, the authors showed, in general, that the characteristics of the two cardiac conditions share more similarities than differences, making diagnosis a challenge in clinical practice.

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