Isn't it surprising when we come across a seemingly looking young male suffering from heart attack? Isn't it remarkable to find a middle aged man undergoing dialysis with no known reason for renal failure? One of the differential diagnosis in these cases that we miss ruling out is Fabry Disease. Globally Fabry Disease is one of the most commonly diagnosed lysosomal disorders.
Reported incidences of Fabry Disease is 1 in 40,000 to 60,000 in males, although experts believe that this is an underestimate. Newborn screening initiatives have found an unexpectedly high prevalence of the disease, as high as 1 in ~3,100 newborns in Italy and approximately 1 in 1,500 in Taiwan. In a population of patients with left ventricular hypertrophy, a prevalence rate as high as 2.1% prevalence was documented for Fabry disease. However Fabry disease rarely gets diagnosed in India, with most treating…
