Spanish patients with Fabry disease, a rare hereditary condition where abnormal fatty deposits collect in blood vessels and organs throughout the body, appear to react differently to those in other European countries, according to a study in the August issue of IJCP, the International Journal of Clinical Practice.
Researchers from three university hospitals say that the Spanish patients showed a different pattern of organ involvement in ill health and death to other European patients on the Fabry Outcome Survey (FOS).
Reporting the findings of more than 30 investigators from the Spanish FOS study group, they add that their study reinforces the need for rare disease registers like the FOS, so that clinicians and researchers can share information on conditions that are relatively uncommon.
"The FOS was initiated in 2001 to gain further understanding of the nature of Fabry disease and to improve the clinical management of patients with this disorder" says lead author Dr Miguel-Angel Barba-Romero from Albacete University Hospital, Spain.
"It is an international outcomes database for all patients with Fabry disease who are receiving, or are candidates for, enzyme replacement therapy with agalsidase alfa."
This study compared the data from 92 Spanish patients (41 men and 51 women) from 29 hospitals, with data from 1,453 patients from across Europe (699 men and 754 women).
Key findings included:
"Our study found that Spanish patients with Fabry Disease showed classic observable traits, but different organ involvement and cause of death from the rest of Europe" says Dr Barba-Romero. "Further research is needed to explain these differences.
"In the meantime, we hope that this study provides another 'brick-in-the-wall', helping to build our knowledge of Fabry Disease. It is important that we alert clinicians to the possibility of this rare inherited disease and reduce the long delay between symptom onset and diagnosis."
The paper is free online at: http://onlinelibrary.wiley.com/doi/10.1111/j.1742-1241.2011.02695.x/pdf
Notes to editors
Fabry disease in Spain: description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS). Barba-Romero et al. IJCP. 65.8, pp 903-310. (August 2011). doi: 10.1111/j.1742-1241.2011.02695.x
IJCP, the International Journal of Clinical Practice was established in 1946 and is edited by Dr Graham Jackson. It provides its global audience of clinicians with high-calibre clinical papers, including original data from clinical investigations, evidence-based analysis and discussions on the latest clinical topics. http://wileyonlinelibrary.com/journal/IJCP www.twitter.com/IJCPeditors
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