CASE REPORT   

Gazzetta Medica Italiana Archivio per le Scienze Mediche 2018 September;177(9):501-3

DOI: 10.23736/S0393-3660.17.03589-6

Copyright © 2017 EDIZIONI MINERVA MEDICA

language: English

A case of phenotypic Anderson-Fabry disease in a female patient

Costantino MANCUSI ✉, Maria V. CARLINO, Alfonso SFORZA, Maria I. ARNONE, Giovanni ALBANO, Giuliano DE STEFANO, Giovanni DE SIMONE

Hypertension Research Center, Federico II University Hospital, Naples, Italy

Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency. The classical phenotype is observed in hemizygous males. Female patients have an extremely variable phenotype ranging from no disease to more severe clinical forms. Over 585 mutations have been described. Some genetic lesions in GLA coding region and intron/exon boundaries are not routinely evaluated. We describe the case of a 51-year-old woman who presented with classical Fabry disease phenotype in absence of mutations in alpha GAL gene sequencing.

KEY WORDS: Fabry disease - Human alpha-galactosidase A - Globotriaosylceramide