Vladimír Bzdúch
Fabry disease is X-linked lysosomal storage disorder with two major phenotypic subtypes, Type 1 classic and Type
2 late-onset. Clinical features in classically affected patients include peripheral neuropathic pain, hypohidrosis,
gastrointestinal symptoms, angiokeratomas, tinnitus and cornea verticillata in early childhood and progress to renal
insufficiency, cardiomyopathy, and cerebrovascular disease in adulthood. The late-onset Fabry disease lack the
classical signs and present as isolated hypertrophic cardiomyopathy, renal failure at later stages in life. Recently
unexpected high frequency of late onset Fabry disease have been reported. Late – onset Fabry disease is a typical
example of the cardio – renal syndrome type 5. Cardiorenal syndrome type 5 includes conditions where there
is a simultaneous involvement of the heart and kidney from a systemic disorder. The ideal time for treatment initiation
for nonclassic phenotype remains unclear. In future well-documented genotype/phenotype registries will became
essential for selection of patients with late- onset form for early therapeutic intervention.