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What is Polycythemia? Causes of Primary & Secondary Polycythemia

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Polycythemia is a condition characterized by an abnormal increase in hemoglobin concentration and red blood cell mass, standing in direct contrast to anemia where these levels are low. This elevation typically occurs when hemoglobin exceeds 17 g/dL in men or 15 g/dL in women, or when hematocrit levels rise above 50% in men and 45% in women. The underlying mechanism involves the expansion of the erythron, which encompasses both circulating red blood cells and their precursors stored in the bone marrow. While anemia often triggers a compensatory increase in precursor proliferation without necessarily increasing total red cell mass, polycythemia represents a genuine surplus where the entire erythron volume is significantly increased. The causes of polycythemia are broadly categorized into relative, primary, and secondary types. Relative or spurious polycythemia arises not from an actual increase in red cells but from conditions like severe dehydration that reduce plasma volume, thereby artificially concentrating the blood components. A rare form known as stress polycythemia or Gaisböck syndrome also falls under this category. In contrast, real polycythemia involves a true increase in red cell mass and is further divided into primary and secondary causes. Primary polycythemia, specifically polycythemia vera, occurs when bone marrow precursors proliferate autonomously due to a malignant condition. Secondary polycythemia, however, results from an external stimulus that drives the production of erythropoietin (EPO), the hormone responsible for stimulating red blood cell formation in the bone marrow. Secondary polycythemia is most commonly triggered by hypoxia, which prompts the kidneys to release excess EPO to compensate for low oxygen levels. Various conditions can induce this state of tissue hypoxia, including chronic lung diseases like COPD and uncontrolled asthma, congenital heart defects involving right-to-left shunts that bypass pulmonary oxygenation, and living at high altitudes. Additionally, elevated carbon monoxide levels from smoking or occupational exposure can cause polycythemia because carbon monoxide binds to hemoglobin with 200 times greater affinity than oxygen, preventing oxygen release to tissues. Other factors include abnormal hemoglobin variants that hold onto oxygen too tightly and tumors such as renal carcinoma, uterine cancers, hepatomas, or cerebellar hemangiomas that autonomously produce erythropoietin without the need for hypoxic stimulation.
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Hello everyone. On one hand, there we talk about anemia where there is decrease in hemoglobin concentration. Polycythemia is a totally opposite concentration where there is increase in hemoglobin concentration above normal. And the cause of this increase in hemoglobin concentration above normal is increase in red cell mass. So yes, in polycythemia there is increase in hemoglobin concentration above normal. And when it increases above 17 g per deciliter in men and above 15 g per deciliter in women. Or there is increased hematocrit. Both is same only. Increased hematocrit, there will be increased hematocrit more than 50% in men and more than 45% in women. So that is known as polycythemia. Now the causes of polycythemia can be real when actually there is increase in red cell mass or it can be relative or spurious. So that is when suppose there is dehydration. So that is going to increase the hemoglobin because this denominator actually is decreasing, okay? So that's why hematocrit is increasing. So that is known as relative or spurious causes. So before going into the actual cause, let us see a little bit underlying physiology so that we are able to understand better. So this term erythron, if you understand what is this, that is the the number of RBCs which are circulating plus the total pool of its precursors in the bone marrow, okay? So bone marrow erythroblast plus the circulating erythrocytes, it composes of erythron. And if these increase, any of these increase, it can lead to polycythemia, okay? So yes, erythron total may decrease in anemia. It will decrease in anemia and there may be compensatory increase in the proliferation of the precursors in bone marrow, right? But, in case of polycythemia, this erythron totally increases and it can be due to both of these, right? So, what is happening if RBCs are less in circulation, this leads to hypoxia to the tissues. If they are less in circulation or the oxygen which is bound to hemoglobin is not released properly. If oxygen is not being released, then that is also leading to hypoxia. Okay. So, any cause hypoxia will lead to release from the kidney of a hormone that is erythropoietin and this erythropoietin goes and acts on the precursors, erythroid precursors in the bone marrow to produce more RBCs. Okay. So, with this fundamental, let us see what will be the causes of polycythemia. So, first moving to just we'll finish off the relative part. Relative polycythemia will occur when there is severe dehydration and there is something known as stress polycythemia which rarely occurs, that is Gaisböck syndrome. But, what are the real causes of polycythemia where actually the red cell mass increases? So, again, real causes can be either primary or secondary. So, primary is basically when the erythroid precursors in the bone marrow proliferate. So, that can occur due to a malignant condition known as polycythemia vera. Okay, so that cause we'll see later what happens in polycythemia vera. So, that is the primary cause. Secondary cause is where there is no disturbance in the precursors as such, but there is some cause which is leading to increase in production of erythropoietin. So, we have seen here that erythropoietin is the stimulator. Basically, it acts on the precursors and causes more proliferation. So, anything which increases EPO will lead to more proliferation of the precursors and more RBCs will be released into the circulation. So, when will EPO release? I told you what is the stimulus? That is hypoxia. So, if there is compensatory increase in erythropoietin production due to hypoxia. So, any diseases which are causing hypoxia. So, it can be the lung diseases, that is COPD, uncontrolled asthma, or there can be congenital heart diseases where right to left left shunt that means the blood is passing directly from the right to left side of the heart without going into the lungs. So, they the blood is not getting oxygenated, right? So, that is right to left shunt which will lead to hypoxia. High altitude, common cause of hypoxia. Then elevated carbon monoxide. Elevated carbon monoxide which occurs in a smokers or due to occupational exposure. This carbon monoxide has high affinity with hemoglobin. So, hemoglobin, instead of binding to oxygen, it will bind to carbon monoxide. So, simply said, oxygen is going to displace whatever bound is there, it is going to displace. Second thing is that carbon monoxide also has another effect, that whatever oxygen is left binding to hemoglobin, that is not even released, okay? So, there is a decrease in the release of oxygen as well. But this is the primary cause where carbon monoxide binds to hemoglobin because carbon monoxide has 200 times more affinity to hemoglobin compared to oxygen, right? So, that can also be the cause. Again, it will lead to hypoxia. Then elevated oxygen hemoglobin affinity, which I told you one that carbon monoxide itself will prevent the release of oxygen from hemoglobin, or there can be some abnormal hemoglobin variants which have more affinity to oxygen so that it is not being released to the tissues. So, all these are going to lead to hypoxia, and hence that is going to lead to increase in erythropoietin production. Or there can be autonomous erythropoietin production, and that happens in certain tumors as a source of erythropoietin. Like renal carcinoma or cyst, uterine cancer, uterine leiomyoma, hepatoma, cerebellar hemangioma. Actually, this cerebellar hemangioma will present first with the neurological localized signs and symptoms, but yes, it causes erythropoietin production as well. What I mean to say that generally the patient doesn't present with polycythemia, the signs and symptoms of polycythemia. So, those were the causes of polycythemia. I hope you understood the concept behind that. Thanks for watching the video. If you liked it, do press the like button. Do share the video with others, and don't forget to subscribe to the channel Physiology Open.