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Hematologic

This is a Blood condition.

Pyruvate Kinase Deficiency

What is Pyruvate Kinase Deficiency?

This is a disease of red blood cells characterized by low energy level, jaundiced skin, and pale and cool extremities. Dogs affected with PKD have red blood cells that have impaired ability to produce energy, leading to breakdown of important cell processes that contribute to form and function. As such they rupture easily, leading to the signs of hemolysis (jaundice) and anemia (low energy, pale and cool extremities). As the disease progresses, the iron-laden contents of the ruptured red blood cells pile up to abnormally high levels in the liver, leading to liver malfunction and failure. The bone marrow is also pushed to exhaustion by constant production of red blood cells to replace those that are lost and can lead to depletion and scarring of the bone marrow (myelofibrosis). Currently, there is no treatment for PK and most dogs are euthanized by four years of age due to liver failure. Some therapies are aimed at removing the heavy iron deposits of the liver, but most treatments focus on palliative care and maintaining quality of life for affected dogs. Experimental therapies, including bone marrow transplantation and gene therapy, have proven promising in a laboratory setting.

What are the signs & symptoms that develop in affected dogs?

You may notice signs of jaundice (yellow tinged skin, gums, and sclera) and anemia (low energy, pale and cool extremities). As the disease progresses, iron reaches abnormally high levels in the liver, leading to liver malfunction and failure.

When do signs and symptoms develop?

Most owners become aware of the clinical signs during puppyhood and the signs continue to worsen until the patient is no longer able to survive (typically around four years of age).

How do vets diagnose this condition?

Genetic testing, blood work, abdominal ultrasound, and bone imaging/biopsy are used to diagnose this disease.

How is this condition treated?

Currently, there is no treatment for PK and most dogs are euthanized by four years of age due to liver failure. Some therapies are aimed at removing the heavy iron deposits of the liver, but most treatments focus on palliative care and maintaining quality of life for affected dogs. Experimental therapies, including bone marrow transplantation and gene therapy, have proven promising in a laboratory setting.

What actions should I take if my dog is affected?

Giving your affected dog the best possible life, including keeping them comfortable and quiet, is all that you can do at this time.

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