Pyruvate kinase deficiency is a condition that can affect both humans and dogs. In its canine form it is particularly dangerous and, in most cases, ultimately fatal. Treatment options are limited and it can be tricky to diagnose as some of the initial symptoms mimic those of other conditions. If your dog is diagnosed with PKD, your best approach is to make him as comfortable as possible for as long as you can.
What exactly is PKD? It is a condition that causes red blood cells to die at a faster rate than usual. Because red blood cells are responsible for carrying oxygen to various muscles and tissues, when the number of cells is diminished it can cause a variety of troubling symptoms. The most common effect of this disease is anemia, which results in a serious lack of energy. PKD only presents when both parents are carriers, though it is possible for a dog to have the genetic mutation that causes the disease without exhibiting symptoms.
Since pyruvate kinase deficiency is a genetic disease, it usually presents early in a dog's life. Most often, symptoms present between four months and one year of age. While this disease can present in any breed, including the Australian Shepherd, it is more commonly found in Labrador Retrievers, Dachshunds, Beagles, Pugs, West Highland White Terriers, and Cairn Terriers.
In its earliest stages, PKD can be difficult to diagnose, but the most common symptoms are weakness, rapid heart rate, lack of energy, heart murmurs, pale gums and stunted growth. As the disease progresses, it will begin to affect the bones and liver. At the onset of symptoms, you should take your dog to the vet for thorough testing and diagnosis. In order to determine the presence of PKD, your vet will have to do a complete physical exam, biochemistry profile, urinalysis, and complete blood count or CBC.
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Symptoms of pyruvate kinase deficiency most often present in young dogs between four months and one year of age.
Unfortunately, at this time the treatment options for pyruvate kinase deficiency are limited solely to bone marrow transplant, which can be expensive and almost as dangerous as the disease itself. If your dog undergoes a successful bone marrow transplant, he may be able to have a normal life span. If treatment is not successful or if the condition is not treated at all, then the prognosis is much bleaker. Dogs with untreated PKD are likely to die by age four.
In the later stages of the disease, affected dogs will develop severe anemia and may experience accumulation of fluid in the abdominal cavity. Eventually, the disease will begin to affect the liver and bone marrow, causing catastrophic failure.
Your veterinarian can advise you about how to care for your dog in the later stages of terminal illness, but the best you may be able to do is keep your dog comfortable, minimize his pain as much as possible and eventually consider euthanasia as a humane option.
No dog owner ever wants to consider the horrible reality of dealing with pyruvate kinase deficiency but it is important to understand the disease and what it means for your dog. It can be particularly jarring in highly active breeds like the Australian Shepherd to watch that natural store of energy being depleted.
If you see any drastic change in your dog's energy level, get him to the vet as soon as possible for a thorough exam and diagnosis so that you can know for sure if PKD is involved and prepare yourself to take the next difficult steps.
For more information about Aussie health issues see the Australian Shepherd Health & Genetics Institute (ASHGI).