The History of Fabry Disease in Females

Fabry Disease is a rare X linked lysosomal storage disorder resulting from deficiency of a-galactosidase. For many years the disease was only thought to be in Males and many research papers will suggest it is a Male dominant disease with very little research focussed on Females with Fabry.

It still remains hard to obtain research papers with updated outcomes and symptoms that many Females suffer and show pre to often late diagnosis or mis diagnosis.

Research Research Research

One paper I came across goes back to 2005 it was carried out by the European FOS Investigators.

The methods carried out was a questionnaire completed by 303 females from all across Europe.

Results:

The most commonly reported clinical feature in females was neurological 77% and cardiac 59%. A history of renal involvement was reported in 40%. The neurological symptoms commonly started late teens and heart issues mean age 33 with renal 37 years.

Conclusion:

Females with Fabry disease need to be monitored carefully. There is a lot of age related clinical features.

The full report can be found on the link below:

References

Journal Articles

Natural history of Fabry disease in females in the Fabry Outcome Survey

P B Deegan, A F Baehner, M‐Á Barba Romero, D A Hughes, C Kampmann, and M Beck, on behalf of the European FOS Investigators.

Frequency and age at onset of specific signs and symptoms of Fabry disease in heterozygous female patients enrolled in FOS – the Fabry Outcome Survey:

Details to the tables below:

Table 1

Table 2

Please also see What is Fabry Disease

A guide for women living with Fabry Disease 2007

I really hope by keep fighting the fight that more up to date information becomes available along with better support and understanding of the disease through out the medical world.

#femalesfightingfabry