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Spanish Fabry disease patients appear to react differently to the rest of Europe
Date:7/20/2011

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:

  • 78 of the Spanish patients were adults and 14 were children. 94% of the men, 48% of the women and 29% of the children were receiving enzyme replacement therapy with agalsidase alfa.

  • The average age of symptom onset was 20 years in the men, 24 in the women, six in the boys and eight in the girls. The average time lapse before diagnosis was 11 years in the adults, one year in the boys and 0.3 years in the girls.

  • Spanish male patients were diagnosed at an earlie
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Contact: Annette Whibley
Annette.wizard@gmail.com
Wiley-Blackwell
Source:Eurekalert

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