Vida Demarin

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Acta Clin Croat (Suppl. 2) 2011; 4th international epilepsy symposium in Pula – how to start seizure treatment92 Acta Clin Croat,  Vol. 50,  (Suppl) No. 2,  2011HOW TO TREAT A PATIENT WITH FABRY DISEASE?NEUROLOGICAL IMPLICATIONSProfessor Vida Demarin, FAAN, FAHA, FESOFellow of the Croatian Academy of Sciences and Arts, Head of the University Department of Neurology, Reference Centre for Headache, Reference Centre for Neurovascular Disorders Croatian Ministry of Health and Social Welfare, University Hospital Centre Sestre milosrdnice, Vinogradska 29, Zagreb Fabry disease is an X-linked lysosomal disor-der that leads to excessive deposition of neutral gly-cosphingolipids in the vascular endothelium of sev-eral organs and in epithelial and smooth muscle cells. Disease is characterized by the accumulation of the glycosphingolipid substrate, ceramide trihexoside and ceramide dihexoside in tissues. Progressive endotheli-al accumulation of glycosphingolipids accounts for the associated clinical abnormalities of skin, eye, kidney, heart, brain, and peripheral nervous system. When young patients present with signs and symptoms of a stroke, along with a history of skin le-sions, renal insuffi  ciency or failure, and heart attacks, Fabry disease is a consideration. Clinical manifesta-tions of Fabry disease comprise chronic pain, kidney impairment, skin lesions, ocular opacities, vascular deterioration, stroke and cardiac deficiencies leading to premature mortality.Fabry disease is uncommon, although research suggests that Fabry mutations may be more frequent in cryptogenic stroke patients. Aggressive eff orts to diagnose the etiology of stroke are necessary to plan secondary prevention strategies. Traditional second-ary stroke prevention strategies are still necessary. Treatment strategies involve combined eff orts from multiple specialties. Th e diagnosis and care of these patients usually is best handled at tertiary care centers. Enzyme replacement therapy has recently become ac-cessible. Agalasidase is recombinant form of the hu-man enzyme α-Gal A, which is deficient in patients with Fabry disease. Data from clinical trials show a decrease in globotriaosylceramide levels following enzyme replacement, reversal in lipid tissue storage, stabilized or improved renal and cardiac function, and reduction or relief of neuropathic pain. 

How to Treat a Patient with Fabry Disease? - Neurological Implications

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