Fabry disease in internal medicine: the role of fever and hyperthermia in diagnosis

Fabry disease starts as fever of unknown origin (FUO) in almost 20% of cases. Inflammation parameters are usually variable. Abnormalities in thermal autoregulation can be true when fever is associated with acroparesthesia and paroxysmal abdominal pain. Otherwise, in the presence of signs and symptoms of chronic inflammation, cytokine secretion and activation is probably due to endothelial and macrophage Gb3 lysosomal storage; proteinuria (less than 1 g/24 hours) and vascular damage are often present, especially in those patients developing chronic kidney disease and/or cerebrovascular ischemic disease. Diagnosis of Fabry disease can be simplified by investigating patient's clinical history regarding the presence of angiokeratomas, cornea verticillata, deafness and/or cardiomyopathy.