4.1. When to look for Fabry (Step 2)


Proteinuria: If a child comes, has proteinuria and you have no cause, Fabry Disease is not at the top of the list but it’s one of the things that might be involved and it’s an important one because there’s a specific treatment for it.

Hypertrophic cardiomyopathy: Fabry Disease isn’t the most common cause of that but Fabry Disease is one of the things on the list and the treatment for Fabry Disease is different from the other common causes.

Early onset stroke: Only 3 or 4% of early stroke will be related to Fabry Disease but it is an important cause.

The strokes will generally be in adults, but at a relatively young age. You can start to see proteinuria and hypertrophic cardiomyopathy in adolescence. These findings are much more compelling if you have more than one of them or if you see a family - you see one of these and then you do a family history and find other problems in the family history that would again be strong evidence that you should think about Fabry Disease and initiate further work-up.





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