Natural history of Fabry disease in females in the Fabry Outcome Survey.

ABSTRACT:

Background

Fabry disease is a rare X linked lysosomal storage disorder resulting from deficiency of alpha-galactosidase A activity. Although the severity of clinical features in male patients is well described, only recently have studies reported the high prevalence of disabling clinical features in heterozygous females.

Aims

This study sets out to examine the clinical features and natural history of Fabry disease in further detail in a large group of female patients.

Methods

Data were obtained from 303 females enrolled in the Fabry Outcome Survey. Pain was assessed using the Brief Pain Inventory, and health related quality of life (HRQoL) was assessed using the European Quality of Life Questionnaire. A modified version of the Mainz Severity Score Index was also appli

SUBMITTER: Deegan PB 

PROVIDER: S-EPMC2563231 | biostudies-literature | 2006 Apr

REPOSITORIES: biostudies-literature