Featured Research

from universities, journals, and other organizations

Spanish Fabry disease patients appear to react differently to the rest of Europe

Date:
July 21, 2011
Source:
Wiley-Blackwell
Summary:
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. Spanish patients showed a different pattern of organ involvement in ill health and death to other European patients on the Fabry Outcome Survey.

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.

Related Articles


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 earlier age than those in the rest of Europe, but the age at diagnosis was similar in women.
  • The biggest problems among adult males were kidney problems (affecting 69%), heart problems (66%) and neurological problems (60%). In female adults it was neurological problems (42%), heart problems (33%) and corneal-related eye problems (30%).
  • Fabry disease was a major cause of end-stage kidney insufficiency at a premature age in the Spanish patients, with significant associations with ill health and death. It was also the cause of premature stroke in the Spanish patients.
  • But in general, the Spanish patients demonstrated significantly less disease-related organ issues than their European counterparts and a lower frequency of corneal disease. Further investigation is needed to see if the two are linked.
  • Spanish male patients experienced the same disease severity as their European counterparts, but the severity in Spanish women was significantly lower than women in the rest of Europe.
  • Patients in the Spanish cohort were more likely to die from infections rather than the heart problems reported in other European patients.

"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."


Story Source:

The above story is based on materials provided by Wiley-Blackwell. Note: Materials may be edited for content and length.


Journal Reference:

  1. M.-. Barba-Romero, A. Rivera-Gallego, G. Pintos-Morell. Fabry disease in Spain: description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS). International Journal of Clinical Practice, 2011; 65 (8): 903 DOI: 10.1111/j.1742-1241.2011.02695.x

Cite This Page:

Wiley-Blackwell. "Spanish Fabry disease patients appear to react differently to the rest of Europe." ScienceDaily. ScienceDaily, 21 July 2011. <www.sciencedaily.com/releases/2011/07/110720091536.htm>.
Wiley-Blackwell. (2011, July 21). Spanish Fabry disease patients appear to react differently to the rest of Europe. ScienceDaily. Retrieved October 24, 2014 from www.sciencedaily.com/releases/2011/07/110720091536.htm
Wiley-Blackwell. "Spanish Fabry disease patients appear to react differently to the rest of Europe." ScienceDaily. www.sciencedaily.com/releases/2011/07/110720091536.htm (accessed October 24, 2014).

Share This



More Health & Medicine News

Friday, October 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

IKEA Desk Converts From Standing to Sitting With One Button

IKEA Desk Converts From Standing to Sitting With One Button

Buzz60 (Oct. 24, 2014) IKEA is out with a new convertible desk that can convert from a sitting desk to a standing one with just the push of a button. Jen Markham explains. Video provided by Buzz60
Powered by NewsLook.com
Ebola Protective Suits Being Made in China

Ebola Protective Suits Being Made in China

AFP (Oct. 24, 2014) A factory in China is busy making Ebola protective suits for healthcare workers and others fighting the spread of the virus. Duration: 00:38 Video provided by AFP
Powered by NewsLook.com
WHO: Millions of Ebola Vaccine Doses by 2015

WHO: Millions of Ebola Vaccine Doses by 2015

AP (Oct. 24, 2014) The World Health Organization said on Friday that millions of doses of two experimental Ebola vaccines could be ready for use in 2015 and five more experimental vaccines would start being tested in March. (Oct. 24) Video provided by AP
Powered by NewsLook.com
Doctor in NYC Quarantined With Ebola

Doctor in NYC Quarantined With Ebola

AP (Oct. 24, 2014) An emergency room doctor who recently returned to the city after treating Ebola patients in West Africa has tested positive for the virus. He's quarantined in a hospital. (Oct. 24) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins