Warmblood Fragile Foal Syndrome

[Bay Ronald 1893--is he the Typhoid Mary of WFFS?]

I wrote the original article that appeared here in early 2018, shortly after the WFFS story broke. Since then there have been many developments on Warmblood Fragile Foal Syndrome (WFFS) , and so it is time to revisit and update our understanding.

Definition: "Warmblood Fragile Foal Syndrome WFFS is an inherited autosomal disorder caused by a single mutation in PLOD1 gene." (Animal genetics.us) Most affected foals are miscarried...it is very rare for a live birth and it is fatal, most die within hours.

First, let's lay out a timeline of industry awareness:

1984--several instances of HERDA and related conditions appeared in the science journals, and of those it appears that the paper by P. Witizig:"Demragtosparaxis in a foal and a cow---- a rare disease? In hindsight it seems this is an example of WFFS.

2000--Kareen Heineking-Schulte (German vet and breeder) posted an editorial in eurodressage about a case that appears to be WFFS.

2004-- T. Winter et al published "Eine Dem Ehlers-Danlos Syndrome des menschen ahnliche"

2007--the tissue of a foal by a Hanoverian mare born in Canada with this condition was sent to Dr. Winand at Cornell University. She had nothing with similar symptoms to compare it with so she froze the specimen.

2010--S.Rufenacht et al published:"Swiss Warmblood with symptoms of hereditary equine regional dermal asthenia without mutation in the cyclohylin B gene", this clearly was another case of WFFS.

2011--a Warmblood mare in Wisconsin gave birth to a foal with the condition and the tissue was forwarded to Dr. Winand, who then compared it to the previous frozen tissue from the above mentioned foal with the same symptoms, and she saw the common double copies of the recessive gene that we have now come to know is WFFS.

2011--VL Marshall et Al published:"Cutaneous asthenia in a warmblood foal" in a Austrian vet journal, once again another case of WFFS.

2011--Dr. Winand began widespread testing for the condition, with a group of 124 warmblood horses of European and American birth, and then 500 German Warmbloods. The first group tested 11.11 percent positive, the second group 9.5 percent. So it appeared the disease was already in 10 percent of the Warmblood population.

2012--Dr. Gunreben conducted a study on WFFS in the Warmblood population. Later in 2015 she expressed surprise that so little action had been taken on the problem.

2012-- A Westphalen mare in Germany produced a WFFS foal, and after the new genetic test for WFFS came out in 2013 they tested the tissue samples and confirmed it was WFFS. Both the stallion and mare were carriers .

2013--Laboklin testing labs in Germany reported 9.4 percent of the Warmbloods they tested were positive for wffs.

2013--Dr. Monthoux published the excellent informative paper: "Skin malformation in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome"

So, it appears by this point in time, testing of the European Warmblood consistently revealed that 10 percent were carriers of this fatal defect, and yet nothing of substance was done to stem the damage. And most important to me, is that the end users of this stock, the breeders, had no idea they were being sold horses and semen that carried this problem. No one bothered to alert the breeders, the end users, the people who were paying big bucks for that stock.

But that is not all. Evidently they knew back then the root bloodline source of the defect, for that is what Dr. Winand said, they knew then, but did not publicly name the horse. It makes me wonder why this knowledge was hidden from the people who most needed it to protect their investment. The owners of the carriers (124 Warmbloods and 500 German Warmbloods) surely knew they had a problem as well, and Dr. Winand and Laboklin lab knew, and Dr. Grunreben knew, but they did not alert the customers. Perhaps they kept silent to avoid a scandal? But that begs the question of why then didn't they quietly pulled the infected stock out of the sale ring and stop marketing the semen of the carriers? Those were my questions back then, and still are not answered today.

It is not the fact that a nasty recessive surfaces in our herds, here in America we have plenty of experience with that (HERDA, HYPP etc.) and as breeders we have to expect this will occur now and then. Rather, it is the failure to notify the breeder along with the continued marketing of the affected stock--behavior that demonstrates callous indifference for the customer.

Here is an excellent article covering the history of awareness for the disease: "Genetic Disease Strikes in Warmblood Breeds" by Heather Smith Thomas, published by United States Dressage Federation and made available in PDF format.

So, it was business as usual for the WBFSH member breeds, selling their horses and shipping their semen, until early in 2018. It was then the British breeder, Mary Nutall, stationed in Texas, had a live foal with WFFS which had to be euthanized. Mary had the foal tested and then contacted the stud where the stallion stood, Hill Top Farm, and that is where the buck stopped. To their everlasting credit, Hill Top immediately took action; removing the infected stallion from their listings, and sounding the alarm bell for breeders. The major American studs of Iron Spring Farm and Spy Coast joined in with Hill Top, and started testing all their stallions as well, and posting the results.

The fallout and the reactions from their European suppliers was unpleasant for Mary and the Americans; because not only did the Europeans deny the problem, some went so far as blaming the American breeders for the disease. When it became apparent their attitudes might harm their incomes, it was then they started to accept some responsibility by testing their stock and publishing their status. Yet, even today, some deny there is a problem, and worse, they paint their American customers as hysterics who were blowing the situation all out of proportion. See Chris Hectors: " WFFS Sweeps the Breeding World".

Here are some of the statements from that piece: 

Chris Hector sums the situation up: "At first the reaction in Europe was a little along the lines of hysterical American ladies, we've seen them before, but this is not going away." and "Some stallion owners were quick to see which way the wind was blowing, and moved quickly to allay fears, not to say hysteria."

Wiebe Yde van der Lageweg: "whole problem had been blown up by the press, and by ignorance."

Paul Schockmohle, who downplays the seriousness of the disease: "there is no reason to panic".

Shultz-Schleppehoff: "But unfortunately there were a few stallion owners in Oldenburg who try to stop disclosure of WFFS with all their might."

Gerd Sosath: " the publication of the latest research has only led to confusion and panic in the breeding community....personally I won't be testing out mares and will continue to breed as before."

Werener Schade: "how this problem was dealt with was a little hysterical".

Interesting take from our European cousins don't you think? We Americans are so hysterical, prone to panic evidently; that we blow things out of proportion. This stance is from those who knowingly sold their tainted stock to us with no customer beware notice. They, being so much more stable mentally made the decision for us that we did not need to be informed. After all everybody knows we are so frenzied we can't make sane choices ourselves. These statements were made this year, not back in 2011 when they were blindsided by the discovery of WFFS. No one has admitted their responsibility in spreading this disease by their silence yet, not the scientists, and certainly not the WBFSH member breeds.

So, how hysterical are we? Has the problem grown or were we blowing the situation out of proportion? Laboklin lab now states 19-20% of the Warmbloods carry the defect--that means one out of five Warmbloods are carriers. That is double the number of carriers from just six years ago. 

UC Davis lab has recently released the results of their tests so far through May 30th 2018. Here are the percentage of carriers by breed listed  highest percentage to least:

Hanoverian 20%

Westphalian 14%

Rheinland 11%

Baden-Wurttenberg 11%

Oldenburg 9%

Dutch 7%

Holstein 7%

Knabstrupper 7%

TB 4%

Trakehner 2%

Swedish 0%

Other testing headlines: Blue Hors Stud found 30% of their stallions were carriers. And Mary Nutall, who tested her entire herd, discovered 40% were carriers. Yet our European friends are saying: Stop being so hysterical because there is nothing to worry about.

Finally this year Dr. Winand, after studying an additional 15,000 Warmbloods, has elected to reveal the root bloodline responsible. She says it is Furioso, his sire Dark Ronald and his grandsire Bay Ronald. These Thoroughbred sires are a huge influence in the warmblood breeds, with Furioso II and his full brother Mexico being modern day dominant lines. And countless herds carry inbreeding and linebreeding to this line, via those two plus the German Thoroughbreds Prunus and Herold, or the English line of Son-in-Law, and many other conduits. These are major Thoroughbred lines, so how come the Thoroughbred itself is not overrun with WFFS? Something is not complete about this picture.

The doctor also made a strong point that she believes the real culprit is a desert bred Arabian further back in the lineage. When I heard her position on this I contacted her, because I had not heard of the Arabian breed being associated with cases of WFFS, and so I wanted clarification. I also contacted the testing labs, and the two that got back to me said they had never seen a positive for WFFS in a Arab. It was then I realized that the doctor might be a victim of the Arabian myth, that states the early Thoroughbred arose from Arabian horses, even though her colleagues like Dr. Walner had proved the foundation sires were Turcamen not Arab. See The Arabian Myth for more on this.

There is more to be uncovered about this disease. And one thing is clear to me: no one seemed concerned about the damage being done to the breeder.

(Dark Ronald 1903, son of Bay Ronald, named as carrier of WFFS...tremendous sport bloodline, great jumping source)

Update: new clues have arrived (6/2019), serious horse scholars in the Netherlands have contacted me and told me of a Arab that was so popular in the early 1800s, first in Poland and then in the Weil stud in Germany, that he was enthusiastically inbred to. And it was noted that many of the foals slipped early, and the ones that were born had skin lesions and died quickly. Do those symptoms sound familiar? Sounds like WFFS to me, and so it did to my friends in the Netherlands: Volfonic Van Heeckeren Van Kell and Paula Hondsmerk, who graciously shared this with me. The stallion was Bairactar and his famous son Amurath was used extensively in the breeding of Warmbloods. Paula said she had shared this information with a person who forwarded it to Dr. Winand, who very shortly launched a Arab testing program of 15,000 European Arabians.

Paula Hondsmerk said "At first it was not noticed, but when Amurath was mated with, amount others, his half-sister due to lack of other mares and stallions that had the same quality, then the foals with the WFFS deviation began to appear. It is Gudrun Waiditschka who described all that in her story about the state stud in Weil." 

I no sooner posted this revision on Facebook then the objections started flying in. Wading through the responders I was able to connect with two Arab experts: Gudrun, the actual author of the above mentioned piece, and Sally Lasater, a long time breeder of high quality racing Arabians who bases her program on the Bairactar line. Here is what I learned pertaining to our subject:

1. The outbreak of the disease in the Weir stud in the inbred lines, was 11 foals, some died at birth, some died before birth, and one lived for a short time. They all has skin lesions and all had sloughing hooves.

2. Gudrun at that time identified those symptoms as being like JEB (Junctional Epidermolysis Bullrosa) not WFFS.

3. No modern Arab has JEB that she is aware of, nor can she find evidence of any in the last 150 years.

4. Sally Lasater, who has based her 30+ years of Arab breeding on this bloodline, has never experienced or heard of either condition in Arabs. 

Going to the UC Davis site for correct symptoms of both these diseases, I found they are similar in some ways, but not in others. See for yourself.

JEB symptoms: moderate to severe blistering of mouth and skin epithela and sloughing of hooves. To date they say it has been found only in the Belgian draft horse, and derivatives of that breed.

WFFS symptoms: hypertensible, abnormally thin, fragile skin and mucous membranes...extensive lesions throughout the body, floppy ears, accumulation of fluid, subcutaneous emphysema, hematoma and premature birth.

Both are inherited recessives that only manifest when homozygous.

Right away you can see that sloughing of hooves, which occurred in all 11 of the foals is not a symptom of WFFS, rather it is a principle expression in JEB. And it appears the overall lesions are more severe in WFFS.

My own contact with testing labs revealed no known cases of WFFS in the Arab. So, as far as testing and experience show, the modern Arab does not carry or pass on either JEB or WFFS. And as Gudrun pointed out, careful breeding practices at Weil succeeded in ridding the original defect from the population. 

So why then is Dr. Winand testing 15000 European Arabs for wffs? And what about Bay Ronald? I don't know...there is still big pieces missing in this puzzle. And how can only 4 percent of Thoroughbreds have wffs if a major line like Bay Ronald is the source? Something is missing here.

Breeders need the information on risks in the bloodlines to protect their investments...our industry must become more transparent. 

Cleaning Up WFFS

The Arabian Myth

Speed Gene

Stamina Gene

Large Heart

Gait Keeper Gene