title: Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease.
abstract: Fabry disease (Anderson-Fabry disease) is one of the most common lysosomal storage diseases (after Gaucher disease) caused by deficient activity of the alpha-galactosidase A (alpha-Gal A) enzyme, which leads to progressive accumulation of globotriaosylceramide in various cells, predominantly in endothelium and vascular smooth muscles, with multisystem clinical manifestations. Estimates of the incidence range from one per 40,000 to 60,000 in males, and 1:117,000 in the general population. Pain is usually the first symptom and is present in 60%-80% of affected children, as well as gastrointestinal disturbances, ophthalmologic abnormalities and hearing loss. Renal failure, hypertrophic cardiomyopathy, or stroke as the presenting symptom may also be found even as isolated symptoms of the disease. Life expectancy is reduced by approximately 20 years in males and 10-15 years in females, therefore enzyme replacement therapy should be introduced in patients of any age and either sex, who meet treatment criteria for Anderson-Fabry disease.
authors.affiliation: Department of Neurology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia.
authors.forename: Vanja Basić
authors.initials: VB
authors.lastname: Kes
authors.affiliation: Department of Neurology, Pozega General Hospital, Pozega, Croatia.
authors.forename: Marijan
authors.initials: M
authors.lastname: Cesarik
authors.affiliation: Department of Neurology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia.
authors.forename: Iris
authors.initials: I
authors.lastname: Zavoreo
authors.affiliation: Department of Neurology, Osijek University Hospital Center, Osijek, Croatia.
authors.forename: Silva
authors.initials: S
authors.lastname: Soldo-Butković
authors.affiliation: Department of Nephrology, Arterial Hypertension, Dialysis and Transplantation, Zagreb University Hospital Center, Zagreb, Croatia.
authors.forename: Petar
authors.initials: P
authors.lastname: Kes
authors.affiliation: Department of Nephrology, Arterial Hypertension, Dialysis and Transplantation, Zagreb University Hospital Center, Zagreb, Croatia.
authors.forename: Nikolina
authors.initials: N
authors.lastname: Basić-Jukić
authors.affiliation: Department of Nephrology and Dialysis, Rijeka University Hospital Center, Rijeka, Croatia.
authors.forename: Sanjin
authors.initials: S
authors.lastname: Racki
authors.affiliation: Department of Dialysis, Osijek University Hospital Center, Osijek, Croatia.
authors.forename: Marko
authors.initials: M
authors.lastname: Jakić
authors.affiliation: Department of Cardiology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia.
authors.forename: Diana
authors.initials: D
authors.lastname: Delić-Brkljacić
authors.affiliation: Department of Dermatology, Osijek University Hospital Center, Osijek, Croatia.
authors.forename: Zlatica
authors.initials: Z
authors.lastname: Jukić
authors.affiliation: Department of Neurology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia.
authors.forename: Zlatko
authors.initials: Z
authors.lastname: Trkanjec
authors.affiliation: Department of Neurology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia.
authors.forename: Vesna
authors.initials: V
authors.lastname: Serić
authors.affiliation: Department of Neurology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia.
authors.forename: Vesna Vargek
authors.initials: VV
authors.lastname: Solter
authors.affiliation: Department of Neurology, Sveti Duh University Hospital, Zagreb, Croatia.
authors.forename: Ivan
authors.initials: I
authors.lastname: Bielen
authors.affiliation: Department of Neurology, Dubrava University Hospital, Zagreb, Croatia.
authors.forename: Silvio
authors.initials: S
authors.lastname: Basić
authors.affiliation: Aviva Medical Center, Zagreb, Croatia.
authors.forename: Vida
authors.initials: V
authors.lastname: Demarin
mesh_terms: D000795:Fabry Disease / Q000175:diagnosis* / Q000628:therapy*; D005260:Female; D006801:Humans; D008297:Male