Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

• Type: Article in International Scientific Journal
• Date: 2008

Authors

Wilcox, WR (Author) Other; João Paulo Oliveira (Author) FMUP; Hopkin, RJ (Author) Other; Ortiz, A (Author) Other; Banikazemi, M (Author) Other; Feldt Rasmussen, U (Author) Other; Sims, K (Author) Other; Waldek, S (Author) Other; Pastores, GM (Author) Other; Lee, P (Author) Other; Eng, CM (Author) Other; Marodi, L (Author) Other; Stanford, KE (Author) Other; Breunig, F (Author) Other; Wanner, C (Author) Other; Warnock, DG (Author) Other; Lemay, RM (Author) Other; Germain, DP (Author) Other

Journal

Title: Molecular Genetics and Metabolism

Vol. 93

Pages: 112-128

ISSN: 1096-7192

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 385 Citations

Scopus - 419 Citations

Other information

Authenticus ID: P-004-1X1

DOI: 10.1016/j.ymgme.2007.09.013

Abstract (EN): Fabry disease (FD) is an X-linked lysosomal storage disease caused by alpha-galactosidase A deficiency. The Fabry Registry is a global clinical effort to collect longitudinal data on FD. In the past, most "carrier" females were usually thought to be clinically unaffected. A systematic effort has been made to enroll all FD females, regardless of symptomology. Of the 1077 enrolled females in the Registry, 69.4% had symptoms and signs of FD. The median age at symptom onset among females was 13 years, and even though 84.1 % had a positive family history, the diagnosis was not made until a median age of 31 years. Twenty percent experienced major cerebrovascular, cardiac, or renal events, at a median age of 46 years. Among adult females with estimated glomerular filtration rate (eGFR) data (N = 638), 62.5% had an eGFR <90 ml/min/1.73M(2) and 19.0% had eGFR <60 ml/min/1.73 m(2). Proteinuria >= 300 mg/day was present in 39.0% of females, and 22.2% had >1 gram/day. Quality of life (QoL), as measured by the SF-36((R)) survey, was impaired at a later age than in males, but both genders experience significantly impaired QoL from the third decade of life onward. Thus, females with FD have a significant risk for major organ involvement and decreased QoL. Females should be regularly monitored for signs and symptoms of FD, and considered for enzyme replacement therapy.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 17