looking for information about the APCR genetic disease

Raul Osorio IGM at mail.telepac.pt
Wed Jul 17 01:52:12 EST 1996


Stephane Corteel wrote:
> 
> A few weeks ago, we were informed that my wife (28 years old) is affected by a
> genetic disease called APCR.
> 
> The only information we have about this disease are :
> 
> - it is a genetic disease apparently due to the mutation of gene
> 
> - it has been recently discovered (2 or 3 years ago)
> 
> - it is related to blood coagulation
> 
> - The effects are increased if the patient eats food containing a high
>   concentration in vitamin K
> 
> - Due to this disease, my wife has alrealy made 2 pulmonary embolisms
>   in 1 year.
> 
> Can someon provide us with more information about this problem, references
> in scientific litterature, known treatments, aso...
> 
> Thank you for all your answers.
> Stephane Corteel, scorteel at resulb.ulb.ac.be


Although I don't know the disease, (maybe if you explain the acronym 
APCR...), it seems to be somehow related with an excess of blood 
clotting factors or their activity, probably those wich are dependent on 
vitamin K for their synthesis.

One possible course of treatment could be the use of anticoagulants, in 
order to reduce the clotting activity of your wive's blood to normal 
levels.

Anyway, since I work on a genetics institute (although not on the field 
of genetics), I'll try and ask my coleagues about the disease, and I'll 
come back to you with anything I find out.

Raul Osorio, MD



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