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Macrothrombocytopenia


kjwarnold

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It's a big word, isn't it?  And this post is long because I've included information about the disorder at the end of my post.

My previous post about Phinney's illness was "I Hate Ticks."  I still hate them but we've finally found the reason for his low platelet count, found when we were investigating why he's had loose stool.  He has Macrothrombocytopenia, meaning his platelets are abnormally large and make it appear that he has a low platelet count.  This is good news for us since it means he does not have a tick-borne disease, doesn't have an autoimmune disease where his body is attacking his platelets, no other problem.  

His original problem was worms that did not show up in his stool sample right away.  While trying to figure out what was wrong, blood tests revealed low platelets.  He's been treated with a shotgun approach and has received a de-wormer, antibiotics, Cerenia and Prednisone to get his platelets up.  Vets were confused why the platelets didn't go up with the Pred, but that's because large platelets are just the way he is.

In researching low platelets, my breeder and I found out about this condition and a DNA test that tests for it.  Since the cost of the DNA test was only $130 (less than some of the other tests the vets ran), we did it.  Man, I'm so glad we did!  Today we can start weaning him off Prednisone and getting back to normal life.

From what I've read, this condition is just starting to get noticed by the Cairn Terrier family.  Phinney's breeder now knows, as well as the owners of his brothers and sister.  Should they have blood tests and low platelets show up, they'll know to look for this.  I think our breeder is going to start testing for it, along with the other things she tests for.  

Note that it takes weeks to get the results of the DNA test, if you decide you want/need to do one.  It took just over three weeks to get Phinney's results.  He was on a fairly high dose of Prednisone during that time since that was all the vets knew to do to increase his platelet count.  I'm not blaming them; our vets went above and beyond in trying to help and they were not at all put off by my researching and asking them to do the DNA test.  By the way, I wasn't sure if Imhsould poet a link to the DNA testing company we used, so I left it out.  If someone wants it or Brad says it's fine, I can either PM it or post it.  The test looks at a host of other things.  For example, we know Phinney is genetically non-curly, likely to have a black mask, and shares genetic traits with the Irish Wolfhound!  ?   We knew these were big dogs in small packages!

I hope this information helps anyone else who might run into this issue.  If your dog is showing low platelets with no other related issues, you might check it out.

Canine Macrothrombocytopenia

Canine Macrothrombocytopenia is a condition characterized by oversized platelets and a low platelet count. The name is derived from words macro (large) and thrombocyte (platelets). This blood disorder is affecting Cavalier King Charles Spaniel, Norfolk Terriers and Cairn Terriers. The causative mutation was originally identified in the Cavalier King Charles Spaniel, and later a similar mutation was also discovered in affected Norfolk Terriers and Cairn Terriers.

Platelets, or thrombocytes, have a key role in bleeding prevention through clumping of blood vessel injuries. At a site of vascular injury, platelets are exposed to surface which is not from blood vessel, and they initiate to aggregate to each other, which results in formation of a hemostatic plug that will seal the defect. In the formation of this plug, fibrin has a role as its stabilizer.

Microtubules are a component of the cytoskeleton, and are very important in a number of cellular processes. One of such roles of microtubules is maintaining the disk shaped form of circulating platelets, and they also drive the orderly fragmentation of platelets from the megakaryocyte cytoplasm. Microtubules are heterodimers composed of alpha and beta monomers. Beta1- tubulin is a component of microtubules and is essential for the maintenance of platelet shape.

Canine Macrothrombocytopenia is characterized by abnormalities in size and count of platelets. Platelets in affected dogs function normally, and affected dogs do not show any health problems or prolonged bleeding time.

Genetics

Macrothrombocytopenia in Norfolk Terriers and Cairn Terriers is associated with mutation in the beta1- tubulin gene, causing expression of malfunctional beta1- tubulin. This causes altered thrombopoietic mechanism and incorrect proplatelet formation in affected dogs.

Macrothrombocytopenia in Norfolk Terriers and Cairn Terriers is inherited in an autosomal recessive manner.  Healthy parents of an affected puppy are obligate heterozygotes, and therefore carry one mutant allele. Heterozygotes have no symptoms. Dogs homozygous for the mutation will display the clinical signs of the disorder. At conception, each cub has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.

Prevalence of carrier and affected dogs rate is very high. Although the condition is not life threatening, it is important to be aware whether your dog is affected. Affected dogs often receive inappropriate treatment with antibiotics, corticosteroids, or other medication because of confusion or lack of awareness of this disorder.

 

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Jandy and my Cairns, Kirby & Phinney 
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Wow..well that's good news. Irish wolfhound....mmmmm.What was Phineys mum doing in Ireland when she should have stayed in Scotland! :P

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Until one has loved an animal, a part of  one's soul remains unawakened.  - Anatole France

Adventures with Sam &Rosie

 

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Fascinating and so important to know these things. Thanks for doing all the research and sharing with us. Your work highlights how our own research can add to the vet's knowledge and together come up with the best way to care for our furry friends.

 

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Thank you for that very informative post! 

3 hours ago, kjwarnold said:

I wasn't sure if Imhsould poet a link to the DNA testing company we used, so I left it out.  If someone wants it or Brad says it's fine, I can either PM it or post it.

Post away!

(If the company or a lab posted it, it would be advertising. The test for any product or service  link is, "Is this in any way self-dealing?" No? Post OK.)

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CAIRNTALK: Questions? Need help? → Support Forum Please do not use PMs for tech support
CRCTC: Columbia River Cairn Terrier Club 

 

 

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my redmon had it, in fact it was the subject of the first post i ever made on cairn talk. as kj says, not a big problem except in diagnosing other problems. glad phinney is on the mend! keep a lookout for those irish wolfhound traits. 

 

and... it seems very strange that phinney is homozygous for flop-ear. how do you keep his ears up, then? and cairns do have long heads --and wide. they are just oversized, period. that's why we are cute!

Edited by pkcrossley
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His ears stand right up there, so I don't know where that flop-ear thing came from!  Weird, isn't it?

Jandy and my Cairns, Kirby & Phinney 
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  • 9 months later...

Brad, I’m trying to take the DNA report pic down but I can’t seem to figure it out.  I looked under my account and photos posted but it doesn’t show any.  🤷‍♀️

Jandy and my Cairns, Kirby & Phinney 
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Wow, great information, thank you for posting the link.  So glad to hear that Phinney is doing okay.  Irish Wolfhound, hmm, I can't seem to wrap my brain around that one. :confused:

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Thanks, Brad.  

For those of you curious, there are a few breeders (including mine) who are now trying to get the CTCA health foundation to work with another club to research Macrothrombocytopenia.  It’s a known disorder in Cavalier King Charles Spaniels and they’ve been researching it a lot.  They are also trying to educate other breeders about it and encouraging them to test their breeding dogs/bitches to see if they are carriers or affected.  Unfortunately, many breeders are reluctant to share things like this.  

As a pet owner of a dog with this disorder, I would be fine buying another one as long as I knew he had it.  Not knowing about it means that a dog could unnecessarily be treated for all kinds of things, when in reality, the dog is fine (at least in terms of the platelets).

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Jandy and my Cairns, Kirby & Phinney 
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It boggles the mind at least in my world why  any responsibie breeder would not want to test for any of these genetic diseases that are know among certain breeds. I probably have mentioned this in another post but being a horse person I always relate back to a Quarter horse stallion called Impressive who was magnificent but unfortunately had a potentially deadly condition that caused the suffering of many horses related to him. Money of course and ego were in the forefront . For those that may be interested please read.http://www.foundationhorses.com/the-impressive-flaw

Until one has loved an animal, a part of  one's soul remains unawakened.  - Anatole France

Adventures with Sam &Rosie

 

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  • 2 years later...

Thank you for posting! I have a Cairn terrier with this! She did have genetic testing and it was confirmed. We were just finishing a prescription for doxycycline because of low platelets when attempting to get her spayed. I certainly hope it is recognized by Veternarian’s more as a result.

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