Are Female Patients More Overlooked in the Diagnosis of Fabry Disease?

Abstract

To the Editor, We have read the article by Barman et al. (1) titled, "The Prevalence of Fabry disease Among Turkish Patients with non-obstructive Hypertrophic Cardiomyopathy: Insights from a Screening Study" with interest. In their descriptive study, the researchers found that the frequency of Fabry disease was 2.5% by screening 80 patients (53 males) diagnosed with hypertrophic cardiomyopathy without left ventricular outflow tract obstruction. The authors emphasized that Fabry disease should be kept in mind in the differential diagnosis of patients with unexplained left ventricular hypertrophy (1). Fabry disease is an X-linked recessive lysosomal storage disorder, first described in 1898, characterized by a deficiency of α-galactosidase A resulting from a genetic mutation. In Fabry disease, glycosphingolipid accumulation occurs in many tissues, especially in the nervous system, heart, kidneys, and skin (2,3).