Normal enzyme function in a suspected case of Fabry disease—A rare entity

Fabry disease (FD) is an X-linked inherited lysosomal disorder secondary to the deficiency of the alpha-galactosidase A enzyme. Reduced alpha-galactosidase activity results in the accumulation of globotriaosylceramide in cells, leading to progressive organ damage and reduced life expectancy. We hereby present a case of a young male suffering from a burning sensation over his extremities for the past 10 years. He developed red, raised, pinhead-sized lesions over his body gradually over the last 8 years and was referred to the dermatology outpatient department from a neurologist. Incidentally, the patient was diagnosed with angiokeratoma corporis diffusum on the basis of examination, dermoscopy, and histopathology, and a diagnosis of Fabry’s disease was contemplated. Alpha-galactosidase enzyme levels were within normal limits, and gene testing was recommended, which the patient could not afford. A diagnosis of Fabry’s disease was established based on strong clinical suspicion and histopathological findings. This case highlights that clinical symptoms of Fabry’s disease can manifest even with normal enzyme levels and no family history.