JBLC STATEMENT

The JBLC recognise members concerns regarding the incidence of Auto-immune disease in Beardies and the apparent rise in reported cases in our recent health study.

Auto-immune diseases are complex polygenic diseases i.e. many genes are required to make a dog susceptible, and there is undoubtedly environmental factors that trigger them. This makes it very difficult to predict which dogs will be affected or to produce breeding strategies to avoid them.

The current best advice is not to breed from any dog affected with chronic (ongoing) Auto-immune disease. Dogs maintained on medication are not 'cured' and should not be bred from and any semen stored from dogs that have gone on to develop Auto-immune disease should be destroyed..

Matings that have produced offspring with auto-immune disease should not be repeated.

If an individual dog has produced multiple cases of auto-immune disease, especially in different and relatively unrelated mates, serious consideration should be given to withholding it from further breeding.

What are the JBLC doing?

Phosphofructokinase Deficiency 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 a 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 (elizabeth.ayrton@btinternet.com 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-research-faq/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:
canine.genetics@aht.org.uk (cost £5 per sample)

Phosphofructokinase Deficiency in Bearded Collies - UPDATE

The Joint Breed Liaison Committee now has an update on the dog initially reported to us as being diagnosed with PFK deficiency. The dog's presenting symptoms and blood tests were consistent with PFK deficiency and so further blood and DNA tests were done by PennGen in the USA. Following these tests, we understand that the owner's vets recommended the results be bought to the attention of the Kennel Club/Breed Club and consequently the diagnosis of PFK deficiency was reported to the JBLC.

As stated previously, we immediately consulted with the Animal Health Trust (AHT) for advice. Their canine genetic research department suggested validating the original results that were reported to us. To this end we sought to work with the owners/ breeders of potentially affected dogs in the line concerned, and contacted them.

We were, however, concerned enough to wish to highlight the possibility of PFK deficiency to Beardie owners whose Beardies, or their relatives, had suffered from regenerative or atypical Haemoltyic Anaemia, as the treatment for PFK deficiency is very different from Auto-Immune disease and the wrong treatment could prove fatal.

We understand now that the breeder of the dog concerned has received further information, from the Specialist Vet who has been treating the dog, to the effect that although the blood tests do indeed show similarity with PFK deficiency, the dog in question does not have the known PFK mutation found in English Springer Spaniels and other breeds. However the specialists are concerned that he could possibly have a new mutation, not currently detectable with the existing tests and further studies would be needed. An enzyme activity test in red blood cells and full DNA sequencing will be required to determine if PFK deficiency can definitely be excluded or confirmed.

We therefore feel that it is extremely important to continue to work with the AHT to fully analyze the DNA of the dog concerned, and some of his relatives. We are undertaking this with the help and full cooperation of the dog's owner, and others. This is in order to ascertain what, if any, mutation can be found (and hopefully eradicated) and to fully investigate what has been reported to us, so that a clear and complete picture can be given to Beardie owners and breeders, something all concerned are anxious to do.

Thankfully the dog in question is currently well but his owner is very sensibly making every effort to avoid subjecting the dog to any of the known trigger stresses in the hopes of averting another crisis. Through the owners vigilance and awareness of the dogs limits he is able to have a good quality of life.

We would like to pass on our thanks to all those owners/breeders concerned who have so far willingly submitted DNA samples for investigation, and as stated before, further updates will be released as and when new information comes to light.