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Myeloproliferative Disorders

Discover the hidden complexities of Myeloproliferative Disorders, their impact on the body, and the latest advancements in treatment options.

USMLE Guide: Myeloproliferative Disorders


Myeloproliferative disorders (MPDs) are a group of hematological disorders characterized by the overproduction of myeloid cells in the bone marrow. This USMLE guide aims to provide a comprehensive overview of MPDs, including their classification, pathogenesis, clinical manifestations, diagnostic approach, and management.


MPDs are classified into several subtypes, including:

  1. Chronic Myeloid Leukemia (CML): Characterized by the presence of the Philadelphia chromosome (Ph), resulting from a reciprocal translocation between chromosomes 9 and 22.
  2. polycythemia vera (PV): Characterized by an excessive production of red blood cells.
  3. Essential Thrombocythemia (ET): Characterized by an increased platelet count without significant red cell or white cell abnormalities.
  4. Primary Myelofibrosis (PMF): Characterized by fibrosis of the bone marrow, leading to ineffective hematopoiesis.
  5. Chronic Neutrophilic Leukemia (CNL): Characterized by an increased number of mature neutrophils in the blood and bone marrow.


MPDs arise from acquired mutations in hematopoietic stem cells, leading to dysregulated proliferation and differentiation. The most common mutation is the JAK2 V617F mutation, present in the majority of PV, ET, and PMF cases. Other mutations, such as CALR and MPL, are also associated with MPDs.

Clinical Manifestations

The clinical presentations of MPDs can vary depending on the specific subtype, but common manifestations include:

  • Fatigue, weakness, and weight loss
  • Splenomegaly (common in PV, ET, PMF)
  • Pruritus (characteristic of PV)
  • Easy bruising, bleeding, or thrombotic events (common in ET)
  • Gout or other symptoms of hyperuricemia (seen in PV and some cases of PMF)
  • Abdominal discomfort or early satiety (due to splenomegaly)

Diagnostic Approach

The diagnostic workup for suspected MPDs includes:

  1. Complete blood count (CBC): May reveal leukocytosis, thrombocytosis, or polycythemia.
  2. Peripheral blood smear: Can show abnormal morphology of red cells, white cells, or platelets.
  3. Bone marrow biopsy: Essential for diagnosing MPDs, enabling assessment of cellularity, fibrosis, and identification of mutations.
  4. Genetic testing: JAK2 V617F mutation analysis is recommended in all suspected cases. CALR and MPL mutations should be tested if JAK2 mutation is negative.


The treatment of MPDs depends on the specific subtype and the presence of symptoms. General management strategies include:

  1. Aspirin: Recommended for all MPD patients without contraindications, especially those with increased platelet counts.
  2. Hydroxyurea: Used in high-risk patients to reduce cell counts and decrease the risk of thrombotic events.
  3. Phlebotomy: Reserved for PV patients with symptomatic hyperviscosity or elevated hematocrit.
  4. JAK inhibitors: Ruxolitinib is approved for intermediate- or high-risk myelofibrosis and polycythemia vera patients who are intolerant or resistant to hydroxyurea.
  5. Allogeneic stem cell transplantation: Considered for younger patients with poor prognosis or disease transformation.


Myeloproliferative disorders encompass a group of hematological disorders characterized by dysregulated myeloid cell production. Understanding the classification, pathogenesis, clinical manifestations, diagnostic approach, and management of MPDs is essential for medical professionals preparing for the USMLE.


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