Identifying and Treating Pyruvate Kinase Deficiency (PKD)

Pyruvate kinase deficiency, or PKD is a medical condition that affects the circulatory system and causes a loss of red blood cells and bone marrow. Also called erythrocyte pyruvate kinase deficiency, this is a genetically inherited condition.  

The genetic defect of PKD means that the animal’s red blood cells will not carry oxygen rich blood throughout the body as efficiently as they should. Red blood cells die off quickly with this condition and normal bodily processes are hampered. The bone marrow struggles to keep up with the necessary red blood cell production. 

Anywhere from 15 to 30% of Somali and Abyssinian cats are affected by PKD. Cats can carry the PKD gene without suffering from some of the symptoms of the disease, but they will be likely to pass on that genetic defect to their offspring if allowed to breed.

Typically, Somali and Abyssinian cats are tested at a young age for this gene, with some of them being selectively bred to reduce the PKD gene. Several dogs are also known to carry the PKD gene including, but not limited to: Dachshunds, Beagles, the American Eskimo Dog and a few types of Terriers.

Symptoms of PKD

Pets that have this disease will lack the Pyruvate Kinase enzyme, an enzyme that regulates metabolism and produces red blood cells. The symptoms caused by PKD come from the body’s inability to create erythrocytes, and the most common symptom of this disease is anemia.

Anemic state is characterized by low energy, cold symptoms, and weakness. It may seem like your pet is not interested in playing, and they may have an increased heart rate after mild activity. Because the red blood cells are not efficiently carrying oxygen throughout the body, the internal organs will struggle to function properly. Pets can go in and out of a state of anemia, but the anemia doesn’t normally get worse until the terminal stage.

Not all animals will experience the same symptoms with PKD, but here are some symptoms you can look for:

  • loss of appetite
  • spleen enlargement
  • low energy
  • jaundice
  • rapid breathing
  • abdominal swelling
  • pale mucous membrane
  • weight loss
  • seizures

Not all pets with PKD will show symptoms. If they have anemia or one of the other major symptoms, they are likely to have a shorter life than average.

Stages of Pyruvate Kinase Deficiency

If PK deficiency is not treated, animals suffering from this disease will usually die by the time they’re four years old. The cause of death is often due to liver failure or bone marrow failure. 

It is quite rare for cats to die from organ failure from PKD. Many of them afflicted with this genetic disorder will not show any symptoms and may suffer from only a mild form of anemia. PKD is actually far more serious in canines.

Animals going through the stages of organ failure and severe anemia will suffer from a much worse anemic state in the final stages of the disease. They will also build up excessive fluid in their abdominal cavity before organ failure.

Treatment for PKD

In most instances, there is no cure for pyruvate kinase deficiency. A bone marrow transplant may restore your pet with PKD to normal health, allowing them to enjoy a full life free of symptoms. This procedure is not always successful and can be quite expensive as well as painful for your pet.

Your pet’s symptoms can be managed, to improve the quality of life and prolong their life. Disease management includes Vitamin D and calcium supplements as well as exercise. 

Severe cases of PKD may be treated by blood or bone marrow transfusions. If a feline has to undergo a blood transfusion, oxygen therapy may be required during the hospital recovery period.

Because pets with PKD may exhibit different symptoms from one another, the treatment can vary from one cat to another. Cats with a large spleen may undergo a splenectomy, where that organ is removed.

PKD Prevention

PKD is most often prevented through selective breeding. Because it is an inherited condition, there’s nothing you can do for your pet to prevent PKD if it carries the gene. Early detection can help lessen the severity of symptoms and improve quality of life.

Early detection and treatment of pyruvate kinase deficiency is critical in felines. Cat and dog breeds with a propensity for this disease may be tested at a young age to determine if they carry the gene.

If you notice any of the above listed symptoms in your pet, it’s important to take your cat to your vet for testing. Other medical conditions, including bacterial infections, can cause anemia similar to that of PKD. The veterinarian will need to rule out other health issues with similar symptoms before treating PKD.

Related Questions

What tests can detect PKD in pets?

It’s very easy to determine PK deficiency in pets. A genetic test can be performed, requiring either a cheek swab or blood sample. The test is extremely reliable and will show whether your pet is a carrier of the PK deficiency gene. A blood cell count can be taken as well to determine if they are suffering from a low level of red blood cells.

The genetic test typically runs about $50.