3. Why early diagnosis in Fabry Diseases can make a difference


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This is an image of results for Quality of Life in adults with Fabry Disease. The cases in these studies were patients aged 14 to 40, and what you will note can be noted is that even at aged 14 in the males you already have relatively low scores. Normal scores will be up in this range around 90 to 100 and lower scores are seen in all the categories in males. In the females you have the typical scores again around 90 and most of the areas in females at aged 14 to 20 are in the normal range. However what you see with females is a decrease over time such that the scores are normal in the 14 to 20 year olds and nearly the same as the men in later adulthood.

 

 

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