Systemic inflammation in Fabry disease: a longitudinal immuno-genetic analysis based on variant stratification.

ABSTRACT:

Background

Fabry disease is a multisystemic lysosomal disorder caused by mutations in the GLA gene. Although traditionally attributed to lysosomal accumulation of globotriaosylceramide (Gb3), recent evidence suggests a key role of sustained systemic inflammation in its pathogenesis, even in early stages.

Objectives

To characterize inflammatory and immunological profiles in a genetically stratified familial cohort with Fabry disease and explore genotype-dependent immune activation patterns.

Design

Retrospective, longitudinal study of 11 patients from three interconnected families carrying distinct pathogenic GLA variants.

Methods

We analyzed longitudinal data on inflammatory biomarkers (C-reactive protein, ferritin, fibrinogen) and immunological markers (IgG, Ig

SUBMITTER: Marin Gomez H 

PROVIDER: S-EPMC12426401 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature