Red blood cell count remains high amid multiple screenings

DEAR DR. ROACH: My wife, 69, has had issues for several years with high counts of red blood cells, hemoglobin and hematocrit. This all started back in 2017. Recently, she had severe pain in her shoulder that wrapped around to her upper abdomen. After a visit to the ER, they ruled out heart attack and stroke (she has a Factor V Leiden abnormality), and a chest X-ray came back clean.
Back in 2017, she did a 24-hour urine collection, which had a couple of high values, and an adrenal tumor was ultimately found. They said it was benign. Given the fact that her father died from kidney cancer, is it possible that there might be an underlying issue not being seen? Should we ask for additional screenings? If so, what might we consider? — B.F.
ANSWER: It’s very hard for me to put everything together, and I’m not sure whether her symptoms relate to the abnormal lab findings of the high counts of red blood cells, hemoglobin and hematocrit.
All three of those are related measurements of red blood cells. The red blood cell count is the amount of red blood cells, while the hemoglobin level is the total amount of hemoglobin, in grams, in a deciliter of whole blood. The hematocrit level is the percentage of blood that consists of red blood cells. In a person with anemia, these levels are generally low, and high levels of any, or all of these, raise the question of an underlying cause.
High levels are most commonly related to low oxygen levels or low blood flow states. Smoking and living at high altitudes are common reasons. The body senses low oxygen and secretes a hormone, called erythropoietin (EPO). Many chronic heart and lung diseases can cause erythrocytosis the same way. She should have had her oxygen levels repeatedly measured, including with exertion.
However, high levels of the hormone erythropoietin can also come from tumors. Kidney cancers and adrenal tumors are the most common. Given her family history and the known adrenal tumor, she should have had her EPO level checked. A very high EPO level with normal oxygen suggests an EPO-secreting tumor. Her doctors would not have ignored that.
Finally, there is a rare type of blood cancer called polycythemia vera, where the bone marrow makes excess red blood cells, but not in response to the high EPO level. This is much less common than the other causes I’ve mentioned. Since polycythemia vera can cause both abnormal bleeding and clotting, this is another possible concern for your wife. This can be tested by looking for the JAK2 mutation. A hematologist may be helpful to make sense out of all of this.
DEAR DR. ROACH: My husband is considering Inspire because he is struggling with the CPAP machine. We read your recent answer to an inquiry about a patient who was annoyed with tongue symptoms during the day. We researched it and learned that Inspire can be turned off during the day. We are confused. — M.J.
ANSWER: Inspire is an implantable device that stimulates the main nerve of the tongue so that the tongue moves out of the way and clears the airway, allowing a person to breathe. The nerve stimulator is in the chest with a lead going into the tongue. The nerve stimulation only happens at night, but some people have persistent daytime symptoms of discomfort or abrasions. These may be persistent during the day and probably relate to trauma at night.
The symptoms can be made better by using a dental guard during sleep or by adjusting the intensity of the nerve stimulation. Inspire is an alternative to CPAP, but can have side effects.
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Dr. Roach regrets that he is unable to answer individual letters, but will incorporate them in the column whenever possible. Readers may email questions to [email protected] or send mail to 628 Virginia Dr., Orlando, FL 32803.
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