(RxWiki News) A disease may not affect all populations in an equal manner. A recent study shows that Spanish patients with a rare genetic metabolic disease do not necessarily exhibit the same symptoms as those in other European countries.
Spanish patients with Fabry disease, a rare inherited condition where abnormal fatty deposits accumulate in blood vessels and organs throughout the body, displayed a different pattern of organ involvement and death as compared to other European patients on the Fabry Outcome Survey.
"See a specialist if you suffer from Fabry disease."
Dr Miguel-Angel Barba-Romero, the study's leader author and a physician at Albacete University Hospital in Spain, said the survey was initiated in 2001 to further understand the rare disease and improve management of Fabry disease.
The database includes all patients with Fabry disease who receive or are candidates for enzyme replacement therapy. Rare disease registers allow doctors to share information about uncommon disorders.
The study compared information from 92 Spanish patients, including 41 men and 51 women from 29 hospitals against data from 1,453 patients across Europe. Of the European patients, 754 were women.
Of the Spanish patients, 78 were adults, and 94 percent of men, 48 percent of women and 29 percent of children were receiving enzyme replacement therapy with agalsidase alfa.
The survey found that the largest problem among adult men with the disease was kidney problems, which affected 69 percent, heart problems, which impacted 66 percent, and neurological problems, which affected 60 percent. Adult women were most likely to suffer from neurological problems with 42 percent affected, while 33 percent experienced heart problems and 30 percent were affected by corneal-related eye problems.
Researchers found that male Spanish patients tended to be diagnosed at an earlier age than the remainder of Europe, but Spanish women were typically diagnosed at about the same age. Fabry disease was also discovered to be a major cause of end-stage kidney insufficiency at a premature age in Spanish patients with a significant link to premature stroke, ill health and death.
Spanish men experienced a disease severity similar to the rest of Europe, but in Spanish women the severity was much lower than the rest of the country. Overall, Spanish patients had significantly fewer disease-related organ issues and less eye disease than the rest of Europe. However, Spanish patients were more likely to die as a result of infections instead of heart problems as reported in other European patients.
