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

W.R. Wilcox; J.P. Oliveira; R.J. Hopkin; A. Ortiz; M. Banikazemi; U. Feldt-Rasmussen; K. Sims; S. Waldek; G.M. Pastores; P. Lee; C.M. Eng; L. Marodi; K.E. Stanford; F. Breunig; C. Wanner; D.G. Warnock; R.M. Lemay; D.P. Germain

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

W.R. Wilcox, J.P. Oliveira, R.J. Hopkin, A. Ortiz, M. Banikazemi, U. Feldt-Rasmussen, K. Sims, S. Waldek, G.M. Pastores, P. Lee, C.M. Eng, L. Marodi, K.E. Stanford, F. Breunig, C. Wanner, D.G. Warnock, R.M. Lemay, D.P. Germain

359 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 <90 ml/min/1.73 m2 and 19.0% had eGFR <60 ml/min/1.73 m2. 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
Udgivelsesdato: 2008/2

Original language	English
Journal	Molecular Genetics and Metabolism
Volume	93
Issue number	2
Pages (from-to)	112-128
Number of pages	16
ISSN	1096-7192
Publication status	Published - 2008

Cite this

Wilcox, W. R., Oliveira, J. P., Hopkin, R. J., Ortiz, A., Banikazemi, M., Feldt-Rasmussen, U., Sims, K., Waldek, S., Pastores, G. M., Lee, P., Eng, C. M., Marodi, L., Stanford, K. E., Breunig, F., Wanner, C., Warnock, D. G., Lemay, R. M., & 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.

Wilcox, WR, Oliveira, JP, Hopkin, RJ, Ortiz, A, Banikazemi, M, Feldt-Rasmussen, U, Sims, K, Waldek, S, Pastores, GM, Lee, P, Eng, CM, Marodi, 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.

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title = "Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry",

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 <90 ml/min/1.73 m2 and 19.0% had eGFR <60 ml/min/1.73 m2. 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 Udgivelsesdato: 2008/2",

author = "W.R. Wilcox and J.P. Oliveira and R.J. Hopkin and A. Ortiz and M. Banikazemi and U. Feldt-Rasmussen and K. Sims and S. Waldek and G.M. Pastores and P. Lee and C.M. Eng and L. Marodi and K.E. Stanford and F. Breunig and C. Wanner and D.G. Warnock and R.M. Lemay and D.P. Germain",

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T1 - Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry

AU - Wilcox, W.R.

AU - Oliveira, J.P.

AU - Hopkin, R.J.

AU - Ortiz, A.

AU - Banikazemi, M.

AU - Feldt-Rasmussen, U.

AU - Sims, K.

AU - Waldek, S.

AU - Pastores, G.M.

AU - Lee, P.

AU - Eng, C.M.

AU - Marodi, L.

AU - Stanford, K.E.

AU - Breunig, F.

AU - Wanner, C.

AU - Warnock, D.G.

AU - Lemay, R.M.

AU - Germain, D.P.

PY - 2008

Y1 - 2008

N2 - 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/1.73 m2 and 19.0% had eGFR <60 ml/min/1.73 m2. 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 Udgivelsesdato: 2008/2

AB - 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/1.73 m2 and 19.0% had eGFR <60 ml/min/1.73 m2. 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 Udgivelsesdato: 2008/2

M3 - Journal article

SN - 1096-7192

VL - 93

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JO - Molecular Genetics and Metabolism

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ER -