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Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry

  • ICIEM 2006
  • Published:
Journal of Inherited Metabolic Disease

Summary

The Fabry Registry is a global observational research platform established to define outcome data on the natural and treated course of this rare disorder. Participating physicians submit structured longitudinal data to a centralized, confidential database. This report describes the baseline demographic and clinical characteristics of the first 1765 patients (54% males (16% aged < 20 years) and 46% females (13% < 20 years)) enrolled in the Fabry Registry. The median ages at symptom onset and diagnosis were 9 and 23 years (males) and 13 and 32 years (females), respectively, indicating diagnostic delays in both sexes. Frequent presenting symptoms in males included neurological pain (62%), skin signs (31%), gastroenterological symptoms (19%), renal signs (unspecified) (17%), and ophthalmological signs (11%). First symptoms in females included neurological pain (41%), gastroenterological symptoms (13%), ophthalmological (12%), and skin signs (12%). For those patients reporting renal progression, the median age at occurrence was 38 years for both sexes, but onset of cerebrovascular and cardiovascular events was later in females (median 43 and 47 years, respectively) than in males (38 and 41 years, respectively). This paper demonstrates that in spite of the considerable burden of disease in both sexes that begins to manifest in childhood or adolescence, the recognition of the underlying diagnosis is delayed by 14 years in males and 19 years in females. The Fabry Registry provides data that can increase awareness of common symptoms in all age groups, as well as insight into treated and untreated disease course, leading to improved recognition and earlier treatment, and possibly to improved outcomes for affected individuals.

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Abbreviations

CNS:

central nervous system

ERT:

enzyme replacement therapy

α-Gal A:

α-galactosidase A

GL-3:

globotriaosylceramide

HIPAA:

Health Insurance Portability and Accountability Act

IRB/EC:

Institutional Review Board/Ethics Committee

SD:

standard deviation

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Correspondence to C. M. Eng.

Additional information

Communicating editor: Verena Peters

Competing interests: Authors may have provided paid and unpaid consultancy services for Genzyme, may have been in receipt of travel expenses to attend meetings and may have participated in a number of clinical trials sponsored by Genzyme. This work was supported by grants from Genzyme Corporation, which also maintains the central Fabry Registry database, but the authors do not have financial interests related to it. All support to physicians participating in the Fabry Registry is conducted under strict guidelines for disclosure and compliance.

References to electronic databases: Fabry disease (OMIM 301500); α-galactosidase A (α-Gal A; EC 3.2.1.22)

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Eng, C.M., Fletcher, J., Wilcox, W.R. et al. Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 30, 184–192 (2007). https://doi.org/10.1007/s10545-007-0521-2

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  • DOI: https://doi.org/10.1007/s10545-007-0521-2

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