The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.

Rosario Sanchez-MartinezTomás Ripoll-VeraManuel López-MendozaJoaquín de Juan-RiberaJuan Ramón GimenoÁlvaro HermidaMaría Aurora Ruz-ZafraJosé Vicente TorregrosaAntonia MoraJosé Manuel García-PinillaElena FortunyAna Aguinaga-BarrileroRoser Torra

Published in: Orphanet journal of rare diseases (2023)

Efforts have been made in recent years to diagnose and treat timely Fabry females in Spain. A high percentage of females with pathogenic variants, regardless of their associated phenotype, will likely develop disease. A proportion of females with severe disease in this cohort received specific treatment. Still a significant number of females, even with same profile as the treated ones, who may be eligible for treatment according to European recommendations, remained untreated. Reasons for this merit further investigation.

Keyphrases

replacement therapy
copy number
heart failure
type diabetes
early onset
left ventricular
smoking cessation
newly diagnosed