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Cryptogenic stroke-challenges in recognizing and treating fabry disease

Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from defi ciency of the lysosomal hydroxylase, alpha galactosidase A (AGLA). In humans, the disease is characterised by the systemic accumulation of the glycosphingolipid substrate, ceramide trihexoside (CTH) and ceramide dihexoside in tissue. Clinical manifestations of Fabry disease include chronic pain, kidney impairment, skin lesions, ocular opacities, vascular deterioration, stroke and cardiac defi ciencies leading to premature mortality. Recently, enzyme replacement therapy (ERT) has become available.

Fabry disease; ischaemic stroke; enzyme replacement therapy

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