Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs.

ABSTRACT: Females with Fabry disease (FD) often have a milder phenotype, later symptom onset, and slower disease progression than males, causing delayed diagnosis and undertreatment. A survey was conducted at nine Italian FD centers to evaluate routine management of females with FD; results were discussed at a meeting of eleven Italian specialists and recommendations developed. Of the 227 females managed by the physicians surveyed, 85% were diagnosed through family screening and 38.5% were symptomatic at presentation. Female patients usually underwent cardiac, renal, and neurologic monitoring, and measurement of plasma lyso-globotriaosylsphingosine (Gb3) levels at 6- or 12-month intervals. Treatment was initiated in 54%, mostly enzyme replacement therapy. Experts recommended screening all female rel

SUBMITTER: Tuttolomondo A 

PROVIDER: S-EPMC11937019 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature