La malattia di Fabry in medicina interna: Ruolo di febbre e ipertermia nella diagnosi

Fabry disease manifests as fever of unknown origin (FUO) in almost 20% of diagnosed cases. Inflammation parameters are usually variable. Abnormalities in thermal autoregulation can be true when fever is associated with acroparesthesia and paroxysmal abdominal pain as occurs in neuropathies. Otherwise, in the presence of signs and symptoms of chronic inflammation, cytokine secretion and activation is probably due to endothelial and macrophage globotrioside (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. The diagnosis of Fabry disease can be simplified by investigating the patient's clinical history regarding the presence of angiokeratomas, cornea verticillata, deafness and/or cardiomyopathy together with FUO. FUO onset can delay the diagnosis of Fabry disease and it is crucial to address Fabry disease in the etiopathogenesis of FUO, because early diagnosis of Fabry disease may delay its systemic progression.