Polycythemia Treatment in Delhi, India

Polycythemia is a blood disorder that occurs when the body produces too many red blood cells. This can lead to increased blood viscosity (thickness). Thick blood does not flow freely through blood vessels, potentially leading to thrombosis (blood clots), stroke/ heart attack, leukaemia, or myelofibrosis.

The blood disorder can be categorised into the following four types depending on its causes and underlying mechanisms. 

Primary Polycythemia 

Also known as polycythemia vera, primary polycythemia is caused by a mutation in the JAK2 gene that occurs in hematopoietic stem cells (precursor cells in the bone marrow). The mutation leads to uncontrolled proliferation of red blood cells, white blood cells and platelets. If left unaddressed, the disorder can be life-threatening. 

Secondary Polycythemia

Unlike primary polycythemia which is a bone marrow disorder, this type of polycythemia is usually caused by an underlying condition such as COPD, chronic bronchitis or obstructive sleep apnea that causes the body to produce more red blood cells. The severity of secondary polycythemia symptoms often depends on the root cause.

Relative Polycythemia 

The blood disorder is caused by a decrease in plasma volume, leading to an apparent increase in red blood cell concentration without an actual increase in RBC production. The condition causes blood to appear thicker.

Congenital Polycythemia

Present at birth, this type of polycythemia is usually caused by gene mutations and fetal hypoxia. While some people with congenital polycythemia are asymptomatic, others may experience crippling symptoms.

Different types of polycythemia can be caused by genetic mutations, underlying medical conditions,and external factors. An in-depth understanding of the cause of the blood disorder can help people with polycythemia better manage their symptoms. 

Genetic Mutations 

Often, polycythemia is caused by a mutation in the JAK2 gene, which makes it constitutively active. This leads to continuous RBC production even in the absence of EPO, a naturally occurring protein hormone that helps the body produce red blood cells. Some other genetic mutations that can cause polycythemia are:

• Mutations in the EPOR gene: Make RBC precursors more sensitive to EPO 

• Mutations in the VHL gene: Affect the oxygen-sensing mechanism 

• Mutations in EGLN1 and EPAS1 genes: Result in increased HIF activity, leading to excess EPO production 

Bone Marrow Disorders 

Essential thrombocythemia (ET) & myelofibrosis, chronic myeloid leukemia, bone marrow hyperplasia and other bone marrow disorders can cause bone marrow stem cells to proliferate uncontrollably. Mutated cells respond too strongly to signals that spur RBC production. 

Kidney Tumours 

Some kidney tumours can produce and secrete erythropoietin or EPO ( normally produced by the kidneys in response to low oxygen levels). In many cases, tumours produce excessive EPO, leading to increased red blood cell production even when oxygen levels are normal.

Uterine Fibroids

Large fibroids can compress blood vessels, leading to decreased oxygen delivery to tissues. Chronic low oxygen levels (hypoxia) can stimulate the kidneys to release more erythropoietin (EPO), resulting in the overproduction of red blood cells, leading to polycythemia.

Endocrine Disorders 

Endocrine disorders such as pheochromocytoma, Cushing's Syndrome, and Conn’s Syndrome can cause the kidneys to produce more erythropoietin, leading to polycythemia. Some endocrine disorders can cause chronic hypoxia, the main physiological stimulus for EPO production.

Several factors can contribute to the development of polycythemia, ranging from lifestyle choices to underlying medical conditions. 

Lifestyle Choices 

Unhealthy lifestyle choices can lead to COPD, cyanotic congenital heart disease and other diseases that can cause hypoxia-induced polycythemia. Smokers are at high risk for polycythemia, as smoking causes oxygen levels in the blood to drop drastically and the body responds to low oxygen levels by producing more red blood cells. 

Underlying Medical Conditions

Some kidney diseases such as polycystic kidney disease and renal artery stenosis can lead to overproduction of EPO. People with renal cell carcinoma are at high risk of developing polycythemia, as malignant kidney tumours can produce excess EPO. 

Age

Age-related changes can affect bone marrow function, leading to overproduction of red blood cells. Older adults are more likely to develop COPD, sleep apnea, and other conditions that can lead to hypoxia (low blood oxygen levels). As oxygen levels decrease, the body produces more red blood cells.

Sex 

In females, estrogen inhibits erythropoiesis, causing their bone marrow to produce less number of red blood cells compared to males. Because men naturally have higher levels of red blood cells and hematocrit, they are more susceptible to polycythemia than women. 

Family History

Some cases of primary polycythemia, especially polycythemia vera (PV), are linked to mutations in the JAK2 gene. A person may inherit these mutations from a close relative. Familial erythrocytosis, an inherited condition caused by mutations in EPOR, VHL, EGLN1, and HIF2A genes, can also lead to increased red blood cell production.

The blood disorder often develops gradually over time and its symptoms can vary depending on the severity of the condition. As polycythemia progresses, its symptoms can worsen or entirely new symptoms can appear.

Fatigue and Weakness 

Polycythemia causes overproduction of red blood cells, leading to increased blood thickness. When blood is too thick, it moves sluggishly, making it harder for oxygen to reach tissues, causing fatigue and weakness. 

Red Skin

When blood becomes too thick, it causes congestion in small blood vessels (capillaries), causing skin on the face, hands, and feet to appear red. The body may try to compensate for thick blood by dilating blood vessels, further enhancing skin redness. 

Abdominal Pain 

Thick blood can cause blood clots to form in the mesenteric arteries, which can lead to intestinal ischemia. Left unaddressed, the medical condition can cause severe abdominal pain, nausea, and even infarction (tissue death). 

High Blood Pressure 

Too many red blood cells make the blood thick. Increased blood viscosity makes it harder for the heart to pump blood, leading to vascular resistance common cause of hypertension. Thick blood moves slowly, often causing blood vessels to narrow, further elevating blood pressure.

Swelling and Pain in the Extremities 

An abnormally high red blood cell count can affect blood circulation, often leading to poor oxygen delivery. Low blood oxygen can cause discomfort, tingling, or pain in the extremities. Blood clots caused by polycythemia can partially or completely block veins or arteries, leading to swelling, pain, and in extreme cases, tissue damage.

Doctors use a combination of clinical evaluations, blood tests, and imaging studies to determine the underlying cause of polycythemia. They may also assess their patients’ hematocrit and hemoglobin levels (to find out if they have primary or secondary polycythemia). 

Complete Blood Count 

Often the first test conducted to diagnose polycythemia, the complete blood count helps measure hematocrit (Hct) and hemoglobin (Hb) levels.A high red blood cell (RBC) (> 48% in women, > 52% in men) count and a high haemoglobin level (>16.5 g/dL in women, >18.5 g/dL in men) can indicate polycythemia. 

Erythropoietin (EPO) Test

An EPO test can help measure EPO levels (erythropoietin stimulates the production of red blood cells in the bone marrow). Low EPO levels indicate polycythemia vera (PV) (a bone marrow disorder), whereas high EPO levels suggest secondary polycythemia due to hypoxia or other conditions.

JAK2 Mutation Test

JAK2 mutation tests are used to detect mutations in the JAK2 gene (such as JAK2 V617F and mutations that affect exon 12 of the JAK2 gene) which are commonly associated with certain blood disorders, including polycythemia vera (PV).

Bone Marrow Biopsy

The medical procedure can help determine whether the overproduction of red blood cells is due to a myeloproliferative neoplasm (MPN) a reaction to chronic hypoxia or a malignant tumour. It is usually performed when polycythemia vera is suspected but JAK2 testing is inconclusive.

Depending on the type of polycythemia, and the severity of polycythemia symptoms, a doctor may use one or more of the following polycythemia treatment options: 

Phlebotomy 

The first-line treatment for polycythemia, phlebotomy involves removing 500 ml of blood every few days until target hematocrit levels are achieved. 

Note: The normal range for hematocrit levels for men and women are 41%-50% and 36%-44% respectively. 

Medications 

A doctor may prescribe medications if phlebotomy alone does not help, or the patient is at high risk of thrombosis. Here are some medications that can help prevent high red blood cell count.

• Hydroxyurea- Lowers hematocrit levels and reduces the risk of thrombosis 

• Interferon-alpha- Directly inhibits the abnormal proliferation of hematopoietic stem cells

• Aspirin- Improves blood circulation by reducing platelet thickness 

• Ruxolitinib- Helps maintain normal hematocrit levels

Treatment of the Underlying Condition 

When polycythemia is caused by an underlying condition (secondary polycythemia), it's important to treat the root cause. Some health conditions and malign growths that can lead to overproduction of red blood cells and treatment options include:

• COPD: Supplemental oxygen therapy 

• Malignant tumours: Surgical removal or targeted therapy

Physical Activity 

Obesity can lead to sleep apnea, which reduces blood oxygen levels, often leading to overproduction of red blood cells. Regular physical activity can help a person maintain a healthy weight, boosting their blood oxygen levels.

If polycythemia runs in a person’s family, there is not much they can do to reduce their risk of the blood disorder. People with no family history of the rare disorder can prevent polycythemia by following the below tips.

Stay Hydrated 

Dehydration can cause relative polycythemia, a condition in which blood becomes more concentrated due to a lower plasma volume. People at high risk of polycythemia should drink water at regular intervals throughout the day to stay hydrated. It's advisable that such individuals cut down on alcohol and caffeine as they can lead to dehydration. 

Quit Smoking 

Smoking increases carbon monoxide levels in the blood. As oxygen in the blood is replaced by CO, the body produces more red blood cells. To reduce their risk of polycythemia, one should quit smoking.

Manage Chronic Lung and Heart Conditions

COPD, sleep apnea, heart failure and other lung and heart conditions that reduce blood oxygen levels can lead to secondary polycythemia. People with these conditions should:

• Get regular check-ups that help monitor lung and heart health
• Use supplemental oxygen if prescribed by a doctor
• Follow their treatment plan 
• Maintain a healthy weight to reduce strain on the heart and lungs

Maintain a Healthy Diet

A balanced, healthy diet consisting of fruits and vegetables can help prevent oxidative stress, which can lead to the development of secondary polycythemia. High iron levels can cause overproduction of increased red blood cells. People at high risk of polycythemia should steer clear of iron supplements unless prescribed.

Avoid Anabolic Steroids and Erythropoietin (EPO) Abuse

Synthetic EPO and anabolic steroids can artificially stimulate red blood cell production, increasing polycythemia risk. Athletes and bodybuilders should consult their doctor before using any performance-enhancing substances and take them only if recommended.

Is polycythemia a lifelong condition?

Polycythemia can be a long-term condition, especially in cases like Polycythemia Vera (PV), which is a chronic blood disorder requiring ongoing management.

How does polycythemia affect daily life?

It can cause fatigue, dizziness, headaches, and an increased risk of blood clots, which may impact daily activities and overall well-being.

Can polycythemia go away on its own?

Reactive (secondary) polycythemia may resolve if the underlying cause is treated, but Polycythemia Vera is a chronic condition that requires lifelong management.

What lifestyle changes help manage polycythemia?

Staying hydrated, avoiding smoking, maintaining a healthy weight, and staying active can help improve circulation and reduce complications.

Can I exercise with polycythemia?

Yes, but it’s important to engage in moderate, low-impact exercises to improve circulation while avoiding activities that increase clotting risks.

Are there dietary recommendations for polycythemia?

A heart-healthy diet rich in fruits, vegetables, whole grains, and lean proteins is beneficial. Staying hydrated is also crucial.

Can dehydration make polycythemia worse?

Yes, dehydration can thicken the blood, worsening symptoms and increasing the risk of complications.

Does polycythemia increase the risk of heart disease?

Yes, due to thicker blood and increased clotting risks, individuals with polycythemia are at a higher risk of heart disease and stroke.

Can polycythemia cause high blood pressure?

Yes, excess red blood cells can increase blood viscosity, leading to higher blood pressure.

Is polycythemia linked to other blood disorders?

Polycythemia Vera is a type of myeloproliferative neoplasm (MPN), which is a group of blood disorders that affect bone marrow function.

Do blood thinners help in polycythemia?

Blood thinners may be prescribed in some cases to reduce clotting risks, but treatment varies depending on the severity of the condition.

How often should someone with polycythemia see a doctor?

Regular follow-ups are crucial, typically every few months, to monitor blood levels and adjust treatment if needed.

Does polycythemia affect life expectancy?

With proper management, individuals with polycythemia can live a normal lifespan, but untreated cases can lead to serious complications.

Is polycythemia hereditary?

Polycythemia Vera is linked to genetic mutations (such as JAK2 mutation) but is not typically inherited. Secondary polycythemia is usually caused by external factors.

Can stress or anxiety worsen polycythemia?

While stress itself doesn’t cause polycythemia, it can raise blood pressure and contribute to cardiovascular strain in individuals with the condition.

Is polycythemia more common in men or women?

Polycythemia Vera is more common in men than women and is usually diagnosed in adults over 50.

Reviewed By Dr. Karuna Jha, Consultant - Bone Marrow Transplant, Haemato-Oncology, on 18 March 2025.