Download JBLC PFK Finalised Statement - Eastern Bearded Collie Association

The Bearded Collie Joint Breed Liaison Committee
Phosphofructokinase In Bearded Collies.
The Joint Breed Liaison Committee has recently been made aware of a Beardie that has been
diagnosed with Phosphofructokinase (PFK) deficiency. This is an inherited condition resulting in
an enzyme deficiency hitherto known in English Springer Spaniels, American Cockers,
Wachtelhunds (German Spaniels), Whippets and mixed breed dogs. It is not an autoimmune
condition.
This disease, does however, share many of the characteristics of regenerative autoimmune
haemolytic aneamia and it is possible that Beardies which have been diagnosed and treated for
AIHA may in fact have had PFK.
The symptoms of PFK are:
Weakness, depression, lethargy, exercise intolerance, stiffness, anaemia, (seen as paleness of
the gums and other membranes), raised body temperature, jaundice and blood in the urine or
dark coloured urine.
The disease often occurs following a period of stress such as hard exercise, heat stress,
excessive panting or barking. As the disease is very similar to AIHA it may not be tested for by
your vet as Beardies are not a breed thought to be predisposed to PFK but the clinical signs are
very similar.
Several laboratories including the Animal Health Trust (AHT), offer a genetic test for PFK which
is inherited as an autosomal recessive condition (ie 2 carriers are required to produce an
affected) and we understand that the Beardie in question was tested by laboratory in America
and found to be affected.
We have only just obtained some information regarding the pedigree of the affected dog and
we are now working, with the help of the AHT and the relevant breeders and owners, to
validate the original DNA test, identify the gene mutation and try and determine the possible
inheritance. We do not, however, know if this problem is confined to one line and so we are
advising owners that PFK is considered by your vet should your dog be suspected to have
regenerative AIHA and that those who have had dogs affected with regenerative AIHA consider
testing them or their relatives for PFK status, (or any owners whose dogs exhibit similar signs to
those given above and are concerned about their health).
We understand that a discount on testing is offered should 20 or more dogs be tested so if
sufficient numbers are interested we can look at organising a clinic.
If you are interested in testing please contact our Breed Health Co-ordinator Elizabeth Ayrton
([email protected] or Tel: 01539 444872 - by phone at weekends only)
We would also ask any owners that do undertake testing share the results - whether positive or
negative with Elizabeth.
Fortunately this is a condition which in all probability can be removed from the gene pool with
selective breeding, provided we are sensible and utilise the tests available. An established DNA
databank would make detection of the lines involved so much easier, so once again we urge
members to contribute samples - contact your Club JBLC member or the AHT for swabs.
We will, of course, share any further information as and when we are able.
The following links provide further information but if you have any queries please contact
Elizabeth or any member of the Joint Breed Liaison Committee.
Links to further information on PFK:
http://ic.upei.ca/cidd/disorder/phosphofructokinase-pfk-deficiency
http://www.petmd.com/dog/conditions/endocrine/c_dg_phosphofructokinase_deficiency
http://www.essfta.org/english-springers/health-genetics-and-researchfaq/phosphofructokinase-deficiency/
http://www.vetbook.org/wiki/dog/index.php/Phosphofructokinase_deficiency
Link to the AHT PFK test:
http://www.ahtdnatesting.co.uk/wp-content/uploads/2014/09/PFK-info-12-2-2014.pdf
For swabs for the DNA databank:
[email protected]
( cost £5 per sample)