Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

Fabry disease' (FD) phenotype is heterogeneous: alpha‐galactosidase A gene mutations (GLA) can lead to classical or non‐classical FD, or no FD. The aim of this study is to describe pitfalls in diagnosing non‐classical FD and assess the diagnostic value of plasma globotriaosylsphingosine. This is a case series study. Family 1 (p.A143T) presented with hypertrophic cardiomyopathy (HCM), absent classical FD signs, high residual alpha‐galactosidase A...