myeloproliferative disorder with eosinophilia

Description

Myeloproliferative disorders (MPDs) are a group of diseases characterized by excessive production of blood cells in the bone marrow. One subtype of MPD is associated with eosinophilia, which refers to an elevated number of eosinophils, a type of white blood cell, in the blood.

Characteristics:

  • Excessive production of blood cells in the bone marrow
  • Elevated levels of eosinophils in the blood (eosinophilia)
  • May be associated with other symptoms such as organ damage, inflammation, and poor prognosis

Types:

  • Hypereosinophilic syndrome (HES): a rare disorder characterized by persistent eosinophilia and damage to multiple organs
  • Chronic eosinophilic leukemia (CEL): a type of cancer involving the overproduction of white blood cells called eosinophils
  • Myeloproliferative HES: a subgroup of patients with eosinophilia, features of myeloproliferative disease, and poor prognosis

Causes and Prognosis:

  • The exact cause of MPDs associated with eosinophilia is unknown
  • Poor prognosis in some cases due to potential organ damage and complications

References:

  • [1] Myeloproliferative diseases are characterized by excessive blood cell production in your bone marrow. High levels of interleukin-5: This is a hallmark of myeloproliferative disorders associated with eosinophilia.
  • [3] Despite recent attempts to define and classify patients with marked eosinophilia and features consistent with myeloproliferative disease, areas of controversy remain.
  • [9] Clonal or primary eosinophilia is generally associated with chronic myeloproliferative disorders (Eos-MPD), including atypical chronic myeloid leukemia (aCML).
  • [10] A subgroup of patients with eosinophilia > 1.5 × 10^9/L, features of myeloproliferative disease, and poor prognosis has long been recognized.
  • [11] Myeloproliferative HES. A subgroup of patients with eosinophilia > 1.5 × 10^9/L, features of myeloproliferative disease, and poor prognosis has long been recognized.
  • [12] Myeloproliferative neoplasms (myeloproliferative disorders) are blood cancers that involve your body making too many red blood cells, white blood cells or platelets. Chronic eosinophilic leukemia (CEL) involves the overproduction of white blood cells called eosinophils.
  • [15] CEL is a chronic myeloproliferative neoplasm of unknown etiology in which a clonal proliferation of eosinophilic precursors results in persistently increased numbers of eosinophils in the blood, bone marrow, and peripheral tissues.

Additional Characteristics

  • excessive production of blood cells in the bone marrow
  • elevated levels of eosinophils in the blood (eosinophilia)
  • hypereosinophilic syndrome (HES)
  • chronic eosinophilic leukemia (CEL)
  • myeloproliferative HES
  • interleukin-5
  • clonal or primary eosinophilia
  • atypical chronic myeloid leukemia (aCML)
  • eos-MPD
  • myeloproliferative neoplasms (MPNs)
  • eosinophilic precursors
  • persistently increased numbers of eosinophils

Signs and Symptoms

Myeloproliferative disorders (MPDs) are a group of blood cancers that involve the overproduction of certain types of blood cells, including white blood cells, red blood cells, or platelets. Eosinophilia is a condition characterized by an excess of eosinophils, a type of white blood cell.

Common signs and symptoms of myeloproliferative disorder with eosinophilia:

  • Enlarged spleen (splenomegaly) [4]
  • Fatigue and general malaise [3]
  • Trouble breathing [3]
  • Heart attack or stroke (in the case of essential thrombocytosis) [3]
  • Headache [3]
  • Fever and feeling very tired (in the case of chronic eosinophilic leukemia) [5]

Other possible signs and symptoms:

  • Anemia
  • Elevated serum tryptase levels
  • Elevated serum vitamin B12 levels
  • Hypogranular or vacuolated eosinophils
  • Myelofibrosis
  • Thrombocytopenia (low platelet count)
  • Itching, cough, muscle pain, or diarrhea (in the case of chronic eosinophilic leukemia) [11]

Note: The presence and severity of these symptoms can vary depending on the specific type of myeloproliferative disorder and individual patient factors.

References:

[1] Context result 2: Hypereosinophilic syndrome (HES) is a rare condition caused by an overload of white blood cells called eosinophils. [3] Context result 3: Signs and Symptoms ; Polycythemia vera. Fatigue, general malaise; Trouble breathing ; Essential thrombocytosis. Heart attack or stoke; Headache ; [4] Context result 4: The first sign of an MPD is often an enlarged spleen that your doctor finds during an exam. [5] Context result 5: Signs and symptoms of chronic eosinophilic leukemia. Updated June 19, 2018 [11] Context result 11: Myeloproliferative disorders cause an excess of certain blood cell types, and they may eventually cause a deficiency of other blood cell types. ... Chronic eosinophilic leukemia: It can cause itching, cough, muscle pain, or diarrhea. This condition may progress to AML.

Additional Symptoms

  • Myelofibrosis
  • Trouble breathing
  • Thrombocytopenia (low platelet count)
  • Enlarged spleen (splenomegaly)
  • Heart attack or stroke
  • Fatigue and general malaise
  • Elevated serum tryptase levels
  • Elevated serum vitamin B12 levels
  • Hypogranular or vacuolated eosinophils
  • Itching, cough, muscle pain, or diarrhea
  • anemia
  • fever
  • headache

Diagnostic Tests

Based on the provided context, here are the diagnostic tests for myeloproliferative disorders with eosinophilia:

  • Peripheral blood smear: This test can help identify abnormal eosinophils or blast cells suggestive of myeloproliferative disorders [4].
  • Bone marrow examination: A bone marrow examination is necessary to diagnose primary eosinophilia, and it should be accompanied by karyotype analysis and additional molecular studies [5].
  • Stool ova and parasite tests: These tests can help rule out parasitic infections that may cause eosinophilia [4].
  • Echocardiography: This test can be helpful in the initial evaluation and monitoring of cardiac disease in patients suspected with hypereosinophilic syndrome [8].
  • Imaging tests: Tests such as X-rays and computed tomography (CT) scans can sometimes detect signs of bone marrow abnormalities, although these tests are not typically part of the diagnosis of myeloproliferative disorders [15].

Additionally, genetic testing may be necessary to identify mutations associated with specific myeloproliferative disorders. For example, a genetic test can help identify the JAK2 V617F mutation in cases of eosinophilic myeloproliferative neoplasms associated with this mutation [14].

It's worth noting that the diagnosis of chronic eosinophilic leukemia (CEL) involves the presence of MPN with eosinophilia and nonspecific cytogenetic/molecular abnormalities, as well as increased myeloblasts. The FISH test is commonly used to diagnose FIP1L1-PDGFRA-positive disease [11].

References: [4], [5], [8], [14], [15]

Treatment

Treatment Options for Myeloproliferative Disorder with Eosinophilia

Myeloproliferative disorders (MPDs) are a group of blood cancers characterized by the excessive production of red and white blood cells. When MPD is associated with eosinophilia, it can be challenging to manage. Fortunately, various treatment options are available to help control the condition.

Targeted Therapy

  • Imatinib: This medication is often used as a first-line treatment for patients with PDGFRA-positive disease (result

Recommended Medications

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Differential Diagnosis

The differential diagnosis of myeloproliferative disorder (MPD) with eosinophilia involves considering various conditions that can present with similar symptoms.

  • Chronic Myeloid Neoplasms: Clonal eosinophilia is most frequently associated with chronic myeloid neoplasms, such as myeloproliferative neoplasms (MPN-eo) or myelodysplastic/myeloproliferative diseases (MDS/MPD) [4].
  • Hypereosinophilic Syndrome: Hypereosinophilic syndrome (HES) is a myeloproliferative disorder characterized by persistent eosinophilia that is associated with damage to multiple organs [5].
  • Medication Reactions: Medication reactions can also cause eosinophilia, which should be considered in the differential diagnosis.
  • Parasitic Infestation: Parasitic infestations are another possible cause of eosinophilia.

To determine the underlying cause of eosinophilia, a comprehensive diagnostic workup is necessary. This may include:

  • Selective testing directed at clinically relevant conditions
  • Morphologic and immunohistochemical analysis of bone marrow by an experienced pathologist
  • Evaluation of cerebrospinal fluid for eosinophilia

A correct diagnosis can only be made after considering all these factors.

References: [1] [2] [3] [4] [5]

Additional Information

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myeloproliferative disorder with eosinophilia
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A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32.
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