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acquired polycythemia

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Description

Acquired Polycythemia: An Overview

Acquired polycythemia refers to a condition where there is an increase in the number of red blood cells (erythrocytosis) in the body, which can be caused by various factors. This condition is distinct from congenital polycythemia, which is present at birth.

Causes and Types

Acquired polycythemia can occur due to several reasons:

  • Hypoxia: High altitude or other conditions that lead to low oxygen levels in the body can stimulate the production of red blood cells.
  • EPO-receptor signaling system mutations: Ac

Additional Characteristics

  • Acquired polycythemia refers to a condition where there is an increase in the number of red blood cells (erythrocytosis) in the body, which can be caused by various factors.
  • This condition is distinct from congenital polycythemia, which is present at birth.
  • Acquired polycythemia can occur due to several reasons:
  • * **Hypoxia**: High altitude or other conditions that lead to low oxygen levels in the body can stimulate the production of red blood cells.
  • * **EPO-receptor signaling system mutations**: Acquired mutations in the erythropoietin receptor (EPOR) gene are a common cause of polycythemia vera, a form of acquired polycythemia.

Signs and Symptoms

Acquired polycythemia, also known as secondary polycythemia, can manifest through a variety of symptoms. These include:

  • Weakness [8]
  • Headache [6][9]
  • Fatigue [7][14]
  • Lightheadedness [6]
  • Shortness of breath [6]
  • Visual disturbances [6][14]
  • Itching (pruritus) [3][6]

In some cases, individuals with acquired polycythemia may also experience:

  • Red, warm, and painful palms and feet, sometimes accompanied by digital ischemia (erythromelalgia) [5]
  • Splenomegaly in over 30% of patients [5]
  • Thrombosis, which can increase the risk of stroke [8]

It's essential to note that these symptoms can be nonspecific and may not necessarily indicate acquired polycythemia. A proper medical diagnosis is necessary for an accurate assessment.

References: [3] - A variety of symptoms can occur in individuals with polycythemia vera including nonspecific symptoms such as headaches, fatigue, weakness, dizziness or itchy ... [5] The palms and feet may be red, warm, and painful, sometimes with digital ischemia (erythromelalgia). Over 30% of patients have splenomegaly. Thrombosis may ... [6] Mar 20, 2024 — Secondary Polycythemia Symptoms · Weakness · Headache · Fatigue · Lightheadedness · Shortness of breath · Visual disturbances · Itching (pruritus) ... [7] Jun 2, 2022 — The primary signs and symptoms of polycythemia include fatigue, headaches, dizziness, and episodic blurred vision. Individuals may also ... [8] Feb 8, 2019 — Secondary polycythemia is the overproduction of red blood cells. It causes your blood to thicken, which increases the risk of a stroke. [9] Sep 11, 2024 — Signs and symptoms of polycythemia vera · Headache · Dizziness · Vertigo · Tinnitus · Visual disturbances · Angina pectoris · Intermittent claudication. [14] Polycythemia vera is a rare blood disorder in which there is an increase in all blood cells, particularly red blood cells. ... Symptoms include lack of energy (fatigue) or weakness, headaches, dizziness, shortness of breath, visual disturbances, nose bleeds, bleeding gums, heavy menstrual periods, and bruising.

Additional Symptoms

Diagnostic Tests

Acquired polycythemia, also known as polycythemia vera (PV), can be diagnosed through various diagnostic tests.

Blood Tests

  • Blood tests are the primary method for diagnosing PV. They may reveal:
    • More red blood cells than normal
    • An increase in platelets or white blood cells
    • A greater percentage of red blood cells that make up total blood volume (hematocrit measurement)
    • Elevated levels of hemoglobin, a protein in red blood cells that carries oxygen [10]
  • Blood tests can also help differentiate secondary polycythemia from PV by testing for the JAK2 V617F mutation and erythropoietin (EPO) level [5]

Other Diagnostic Tests

  • A peripheral blood smear may show abnormal red blood cell morphology, such as cells with unusual shapes or sizes [1]
  • Pulse oximetry measures how much oxygen is in your blood (blood oxygen level), which can be affected in PV patients [1]
  • Kidney and liver function tests can show signs of kidney disease or a tumor causing high levels of EPO or red blood cells [1]

Diagnostic Criteria

  • The World Health Organization (WHO) requires three separate criteria to diagnose PV:
    • Blood test showing high red blood cell count
    • Presence of JAK2 V617F mutation
    • Elevated erythropoietin level [6]
  • Meeting all three major criteria or the first two major criteria and the minor criterion is required for ICC diagnosis of PV [13]

Importance of Accurate Diagnosis

  • Accurate diagnosis of PV is crucial for proper management of the patient, as it affects approximately 65,000 people in the US with an annual incidence of 0.5 to 4.0 cases per 100,000 persons [12]
  • Misdiagnosis can lead to inappropriate treatment and increased risk of thrombosis.

Note: The above information is based on the search results provided within the context.

Additional Diagnostic Tests

  • Blood Tests
  • Pulse Oximetry
  • Peripheral Blood Smear
  • Kidney and Liver Function Tests

Treatment

Acquired polycythemia, also known as secondary polycythemia, is a condition characterized by an increase in red blood cell mass due to an underlying cause such as chronic hypoxia, smoking, or certain types of cancer. The treatment for acquired polycythemia focuses on addressing the underlying cause and managing symptoms.

Phlebotomy

The primary treatment for acquired polycythemia is regular phlebotomy, which involves removing blood from the body to reduce the red blood cell mass. This can help alleviate symptoms such as headaches, dizziness, and shortness of breath. Phlebotomy is usually performed every 2-4 weeks until the hematocrit (the proportion of red blood cells in the blood) returns to normal.

Other treatments

In addition to phlebotomy, other treatments may be necessary depending on the underlying cause:

  1. Smoking cessation: If smoking is the underlying cause, quitting smoking can help reduce the risk of complications.
  2. Oxygen therapy: If chronic hypoxia is the underlying cause, oxygen therapy may be prescribed to improve oxygen levels in the blood.
  3. Medications: In some cases, medications such as diuretics or vasodilators may be used to manage symptoms and prevent complications.
  4. Hormone therapy: If polycythemia vera (a type of acquired polycythemia) is caused by an overproduction of erythropoietin, hormone therapy may be necessary to reduce the production of this hormone.

Surgery

In rare cases, surgery may be necessary to remove a tumor or other underlying cause that is contributing to the acquired polycythemia.

Monitoring and follow-up

Regular monitoring and follow-up appointments with a healthcare provider are essential to ensure that the treatment plan is effective and to detect any potential complications early on. This may include regular blood tests, physical exams, and imaging studies (such as ultrasound or CT scans) to monitor the progression of the disease.

It's worth noting that acquired polycythemia can increase the risk of blood clots, stroke, and other cardiovascular events. Therefore, it's essential to work closely with a healthcare provider to develop an individualized treatment plan that takes into account these risks.

Recommended Medications

  • Diuretics
  • Vasodilators

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

The differential diagnosis of acquired polycythemia, also known as erythrocytosis, involves identifying the underlying cause of an increased red blood cell mass.

  • Polycythemia vera: This is a specific type of acquired erythrocytosis that arises from a somatic JAK2 pathogenic variant. It's one of the most serious conditions associated with polycythemia and requires immediate treatment due to a high thromboembolic risk [4].
  • Secondary erythrocytosis: This condition is more common than PV and has a broad differential diagnosis that includes hypoxic lung disease, cyanotic congenital heart disease, medications (e.g., testosterone) and erythropoietin-producing malignant disorders [11][13].
  • Acquired primary erythrocytosis: This type of acquired erythrocytosis is often associated with an intrinsic defect in the erythropoietin receptor on the red cell, resulting in a truncated receptor that signals for red-cell production without the need for erythropoietin [14].

Other conditions that may be considered in the differential diagnosis of acquired polycythemia include:

  • Chronic myelogenous leukemia: This is a type of myeloproliferative neoplasm that can present with increased red blood cell mass.
  • Essential thrombocythemia: Another type of myeloproliferative neoplasm that may be considered in the differential diagnosis.
  • Hypoxic lung disease: Certain conditions, such as chronic obstructive pulmonary disease (COPD), can lead to secondary erythrocytosis due to hypoxia.

It's essential to determine the duration of the process and differentiate between life-long and acquired erythrocytosis when considering the differential diagnosis of non-clonal erythrocytosis [15].

Additional Information

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