Patient reports on her experiences at the geneticist

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It is shocking how little is known about Fabry disease, although there has been a therapy for more than 20 years.

Much false information is still widespread:

Starting with the number of people affected. The frequency is given as 1 in 40,000. There are mutations that are found much more frequently in the population. Example the variant p.D313Y. This is estimated to affect 1 in 200 people.

Men are affected more often.

Women are only carriers and would not get sick themselves.

The healthy X in women can compensate for the sick.

Unfortunately, the so-called biomarkers such as measuring α-galactosidase A activity and determining the lyso-Gb3 level cannot provide unambiguous results either, since a gene defect can be present regardless of gender, despite normal values.

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