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

William R. Wilcox, João Paulo Oliveira, Robert J. Hopkin, Alberto Ortiz, Maryam Banikazemi, Ulla Feldt-Rasmussen, Katherine Sims, Stephen Waldek, Gregory M. Pastores, Philip Lee, Christine M. Eng, L. Máródi, Kevin E. Stanford, Frank Breunig, Christoph Wanner, David G. Warnock, Roberta M. Lemay, Dominique P. Germain

Research output: Contribution to journalArticle

323 Citations (Scopus)

Abstract

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 2 and 19.0% had eGFR 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® 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.

Original languageEnglish
Pages (from-to)112-128
Number of pages17
JournalMolecular Genetics and Metabolism
Volume93
Issue number2
DOIs
Publication statusPublished - Feb 2008

Fingerprint

Fabry Disease
Registries
Glomerular Filtration Rate
Quality of Life
Signs and Symptoms
alpha-Galactosidase
Lysosomal Storage Diseases
Enzyme Replacement Therapy
Proteinuria
Age of Onset
Kidney
Enzymes

Keywords

  • Alpha-galactosidase A
  • Cardiomyopathy
  • Chronic kidney disease
  • Enzyme replacement
  • Fabry disease
  • Heterozygote
  • Proteinuria
  • Quality of life
  • SF-36
  • Stroke

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

Cite this

Wilcox, W. R., Oliveira, J. P., Hopkin, R. J., Ortiz, A., Banikazemi, M., Feldt-Rasmussen, U., ... Germain, D. P. (2008). Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry. Molecular Genetics and Metabolism, 93(2), 112-128. https://doi.org/10.1016/j.ymgme.2007.09.013

Females with Fabry disease frequently have major organ involvement : Lessons from the Fabry Registry. / Wilcox, William R.; Oliveira, João Paulo; Hopkin, Robert J.; Ortiz, Alberto; Banikazemi, Maryam; Feldt-Rasmussen, Ulla; Sims, Katherine; Waldek, Stephen; Pastores, Gregory M.; Lee, Philip; Eng, Christine M.; Máródi, L.; Stanford, Kevin E.; Breunig, Frank; Wanner, Christoph; Warnock, David G.; Lemay, Roberta M.; Germain, Dominique P.

In: Molecular Genetics and Metabolism, Vol. 93, No. 2, 02.2008, p. 112-128.

Research output: Contribution to journalArticle

Wilcox, WR, Oliveira, JP, Hopkin, RJ, Ortiz, A, Banikazemi, M, Feldt-Rasmussen, U, Sims, K, Waldek, S, Pastores, GM, Lee, P, Eng, CM, Máródi, L, Stanford, KE, Breunig, F, Wanner, C, Warnock, DG, Lemay, RM & Germain, DP 2008, 'Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry', Molecular Genetics and Metabolism, vol. 93, no. 2, pp. 112-128. https://doi.org/10.1016/j.ymgme.2007.09.013
Wilcox, William R. ; Oliveira, João Paulo ; Hopkin, Robert J. ; Ortiz, Alberto ; Banikazemi, Maryam ; Feldt-Rasmussen, Ulla ; Sims, Katherine ; Waldek, Stephen ; Pastores, Gregory M. ; Lee, Philip ; Eng, Christine M. ; Máródi, L. ; Stanford, Kevin E. ; Breunig, Frank ; Wanner, Christoph ; Warnock, David G. ; Lemay, Roberta M. ; Germain, Dominique P. / Females with Fabry disease frequently have major organ involvement : Lessons from the Fabry Registry. In: Molecular Genetics and Metabolism. 2008 ; Vol. 93, No. 2. pp. 112-128.
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