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.
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)