The pyruvate blood test is ordered so that a measurement of an individual’s pyruvate kinase enzymes can be obtained. This is the enzyme that is found in red blood cells that helps to convert glucose into usable energy when there are low levels of oxygen present. When there isn’t enough of this enzyme, then the red blood cells will break down prematurely. In return, a negative cycle is developed where there won’t be enough red blood cells to transport oxygen, which creates further reductions.
If left untreated, there is the possibility that cells, tissues, and even vital organs can be affected by a lack of oxygen. This condition, which is known as hemolytic anemia, can cause numerous symptoms that can become quite bothersome.
When Is the Pyruvate Blood Test Ordered?
If a medical provider has a patient come in with the signs and symptoms of hemolytic anemia, then this blood test will be ordered immediately to confirm their suspicions. The symptoms can include a yellowing of the skin, spleen enlargement, fatigue, and skin that is more pale than normal. For children, it may be ordered if there are delays in growth or there is evidence of a failure to thrive.
Gallstones may also present themselves as part of this disease. In adults, there may also be chronic ulcers on the legs.
Being deficient in pyruvate kinase is evidence of an autosomal recessive genetic disorder. This means both parents had to be carriers for this genetic disorder for it to have been passed along. When both parents are carriers, there is a 25% chance that the recessive trait which causes these bothersome signs and symptoms will be passed along.
If both parents are down to have this gene deficiency, then children are typically ordered to have this blood test early on in life.
What Do My Test Results Mean?
A normal value of pyruvate kinase has been established to be at or near 179+16/100 ml of red blood cells. This means that there can be high or low levels that are detected by the blood test. High levels are typically not treated as this means there is more enzyme than is needed. This means more glucose is being converted and it may be a medically insignificant test result based on individualized biological variability.
If the test results are low, however, then there may be several treatment options considered for this condition. Most individuals with a confirmed deficiency diagnosis will receive at least one blood transfusion so that their damaged red blood cells can be replaced. It is fairly common to begin receiving regular transfusions if progress against the bothersome signs and symptoms is experienced.
When there is a severe deficiency, however, there may be a need to prevent the destruction of red blood cells. In some patients, the complete removal of the spleen may be necessary. Even with a splenectomy, however, there may still be symptoms experienced or a relapse of symptoms may occur. With the right treatment it is expected that an individual’s quality of life will improve.
Here’s What You Need to Know
Pyruvate kinase deficiency (PKD) happens all over the world. Most cases are reported in Japan, Europe, and the United States. The population demographic that is at the greatest risk of experiencing this genetic disorder is the Amish populations that are located in Pennsylvania. The observed frequency of this disorder has only been about 3 people per million, but it is believed to be as high as 51 people per million in certain population demographics.
There are more than 150 different mutations which have been identified that can cause PKD. By classic definition, it is caused by an autosomal recessive gene that is passed along by both parents. Most people who are diagnosed with PKD today are actually carrying two or more different mutations that are affecting this enzyme.
PKD can also be an acquired disease in specific circumstances. People who have acute leukemia, pre-leukemia, or a certain type of anemia may develop PKD as a co-existing disease. Chemotherapy treatments are also known to cause a mild form of this disease that may go into recession once the treatments cease.
After a positive pyruvate blood test, the focus becomes managing the condition. From lifestyle changes to transfusions to bone marrow transplantation, there are numerous options available to manage this condition. If you have a positive test result, speak with your doctor about what it means for your health so that a beneficial treatment plan can be developed.