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 α-galactosidase A (α-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.forename: Vanja Bašić
authors.initials: VB
authors.lastname: Kes
authors.forename: Marijan
authors.initials: M
authors.lastname: Cesarik
authors.forename: Iris
authors.initials: I
authors.lastname: Zavoreo
authors.forename: Silva Soldo
authors.initials: SS
authors.lastname: Butković
authors.forename: Petar
authors.initials: P
authors.lastname: Kes
authors.forename: Nikolina
authors.initials: N
authors.lastname: Bašić-Jukić
authors.forename: Sanjin
authors.initials: S
authors.lastname: Rački
authors.forename: Marko
authors.initials: M
authors.lastname: Jakić
authors.forename: Diana
authors.initials: D
authors.lastname: Delić-Brkljačić
authors.forename: Zlatica
authors.initials: Z
authors.lastname: Jukić
authors.forename: Zlatko
authors.initials: Z
authors.lastname: Trkanjec
authors.forename: Vesna
authors.initials: V
authors.lastname: Šerić
authors.forename: Vesna Vargek
authors.initials: VV
authors.lastname: Solter
authors.forename: Ivan
authors.initials: I
authors.lastname: Bielen
authors.forename: Silvio
authors.initials: S
authors.lastname: Bašić
authors.forename: Vida
authors.initials: V
authors.lastname: Demarin
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D017523:Croatia; D000795:Fabry Disease / Q000175:diagnosis* / Q000628:therapy*; D005260:Female; D006801:Humans; D008297:Male; D009398:Nephrology / Q000592:standards; D017410:Practice Guidelines as Topic; D011785:Quality Assurance, Health Care / Q000592:standards; D012720:Severity of Illness Index