Tag Archives: rare disease

Introduction Fabry disease is a rare X-chromosome-linked disorder that results from alpha-galactosidase A enzyme deficiency. It is broadly divided into classical (earlier onset, low enzyme activity) and non-classical (milder, later-onset and some residual activity). It is underdiagnosed despite the availability of diagnostic tests, such as blood (plasma or leucocyte alpha-galactosidase A enzyme) and genetic testing. Due to its heterogeneous nature as a multi-system disorder, Fabry disease (FD) is rarely considered. Patients often present with non-specific symptoms, such as fatigue and gastrointestinal symptoms akin to irritable bowel, taking