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Guidelines for Diagnosis, Therapy and Follow Up of Anderson-Fabry Disease

Vanja Bašić Kes
Marijan Cesarik
Iris Zavoreo
Silva Soldo-Butković
Petar Kes
Nikolina Bašić-Jukić
Sanjin Rački
Marko Jakić
Diana Delić-Brkljačić
Zlatica Jukić
Zlatko Trkanjec
Vesna Šerić
Vesna Vargek Solter
Ivan Bielen
Silvio Bašić
Vida Demarin

Puni tekst: engleski pdf 311 Kb

str. 395-405

preuzimanja: 2.015



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.

Ključne riječi

Anderson-Fabry disease; diagnosis; treatment

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