Eosinophilia and Cardiac Disease Quiz

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Questions and Answers

Which clinical manifestation is the major cause of mortality associated with cardiac disease?

Pulmonary infiltrates

Dilated cardiomyopathy (correct)

Pruritus

Gastritis

What is a common neurological manifestation resulting from involvement of the central and peripheral nervous systems?

Colitis

Hepatitis

Angioedema

Dementia (correct)

Which mechanism is primarily responsible for tissue damage in eosinophilia?

Eosinophil degranulation (correct)

Eosinophil apoptosis

Eosinophil proliferation

Eosinophil recruitment

Which of the following classifications is characterized by unknown cause and exclusion of other subtypes?

Idiopathic HE/HES Signup and view all the answers

What symptom is NOT typically associated with gastrointestinal involvement in eosinophilia?

Pulmonary effusion Signup and view all the answers

Which variant of HE/HES includes the presence of a clonal or phenotypically aberrant T-cell population?

Lymphocytic variant HE/HES Signup and view all the answers

Which condition describes eosinophilic disorders that overlap in presentation with idiopathic HE/HES?

Overlap HES Signup and view all the answers

What type of skin manifestation can occur in eosinophilia?

Angioedema Signup and view all the answers

What is the main purpose of assessing occult lymphoma in patients with LHES?

To identify any increase in clonal T-cell populations Signup and view all the answers

Which laboratory finding might suggest the presence of myeloid neoplasms?

Dysplastic eosinophils Signup and view all the answers

What role do quantitative serum immunoglobulin levels play in diagnosing LHES?

Elevated IgE levels can indicate various conditions, including LHES Signup and view all the answers

The presence of elevated serum tryptase is most commonly associated with which condition?

LHES Signup and view all the answers

What is the significance of flow cytometry in lymphocyte phenotyping for LHES?

It characterizes clonal or aberrant T-cell populations Signup and view all the answers

In the context of routine chemistries, why are liver function tests performed?

To identify end organ involvement Signup and view all the answers

What finding in a complete blood count might suggest involvement of other lineages besides eosinophils?

Presence of dysplastic neutrophils Signup and view all the answers

Which of the following statements about elevated serum B12 levels is accurate?

They can be seen in myeloid neoplasms among other conditions Signup and view all the answers

Which test is primarily used to evaluate suspected cardiac involvement in patients with hypereosinophilia?

Cardiac MRI Signup and view all the answers

What is the purpose of performing a biopsy of affected tissues in cases of hypereosinophilia?

To assess cardiac tissue involvement Signup and view all the answers

Which of the following conditions would not necessarily require a bone marrow biopsy?

Parasitic infection with eosinophilia Signup and view all the answers

What specific test should be performed for patients with elevated serum tryptase levels?

Testing for FIP1L1::PDGFRA Signup and view all the answers

In patients with suspected pulmonary involvement, which test should be prioritized?

Pulmonary function tests Signup and view all the answers

Which genetic testing should be guided primarily by the results of initial testing and bone marrow examinations?

NGS myeloid panel Signup and view all the answers

What imaging test is particularly noted for its role in evaluating patients with suspected LHES?

PET scan Signup and view all the answers

Which of the following is NOT considered a cause for conducting further testing for secondary causes in hypereosinophilia?

Complete blood count showing normal eosinophil levels Signup and view all the answers

What is the primary therapeutic approach for patients with severe and/or life-threatening manifestations of HES?

Prednisone Signup and view all the answers

Which additional therapy should be considered if eosinophilia does not decrease significantly within 24 to 48 hours?

Imatinib Signup and view all the answers

In the context of HES, what is a serious limitation of long-term corticosteroid therapy?

Increased resistance and toxicity Signup and view all the answers

What was the initial diagnosis for the patient before further evaluations?

Idiopathic thrombocytopenic purpura Signup and view all the answers

What are eosinophil-targeting biologics primarily designed to do?

Reduce eosinophil levels in blood and tissues Signup and view all the answers

What significant laboratory finding accompanied the patient's eosinophilia during treatment?

Elevated IgE levels Signup and view all the answers

Which treatment was initiated after the patient's symptoms did not improve with hydroxyurea therapy?

Interferon α Signup and view all the answers

Which of the following conditions should also be considered during the diagnostic process for eosinophilia?

Helminth infection Signup and view all the answers

What type of T-cell population was noted in the patient's flow cytometry results?

Aberrant CD3–CD4+CD10+ T-cell population Signup and view all the answers

What is the significance of assessing the presence and severity of clinical manifestations in eosinophilia?

Determines the nature and urgency of therapeutic intervention Signup and view all the answers

What was the initial treatment attempted for the 38-year-old woman with pruritus before referral to hematology?

Short course of solumedrol Signup and view all the answers

Which condition was ruled out by the negative results of the D816V KIT testing?

Mast cell activation syndrome Signup and view all the answers

Which laboratory finding in the clinical case provided indicates the need for further evaluation regarding eosinophilia?

Eosinophilia Signup and view all the answers

What was the patient's absolute eosinophil count (AEC) at the time of referral to the National Institutes of Health?

3.01 x 10^9/L Signup and view all the answers

What symptom returned as the prednisone was tapered following initial improvement?

Eosinophilia Signup and view all the answers

What was a significant clinical change after starting interferon α therapy?

Resolution of eosinophilia Signup and view all the answers

What is the primary feature that defines hypereosinophilia (HE)?

AEC > 1.5 × 10^9 / L Signup and view all the answers

Which of the following is not a common cause of eosinophilia?

Acute lymphoblastic leukemia Signup and view all the answers

What is the estimated incidence of hypereosinophilia in the general population?

0.315 to 6.3 per 100,000 Signup and view all the answers

Which category of disorders typically causes mild to moderate eosinophilia?

Atopic disorders Signup and view all the answers

Hypereosinophilic syndromes can result in which of the following life-threatening complications?

Endomyocardial fibrosis Signup and view all the answers

Which of the following is considered a rare hypereosinophilic syndrome?

Eosinophilic myeloid neoplasms Signup and view all the answers

According to the WHO definition, what is needed for diagnosing hypereosinophilic syndrome?

Organ damage attributable to tissue eosinophilia Signup and view all the answers

Which disorder is commonly treated with steroids that can lead to potential eosinophilia?

Chronic eosinophilic pneumonia Signup and view all the answers

Which inborn error of immunity is commonly associated with recurrent infections?

DoCK8 deficiency Signup and view all the answers

Which patient population is most likely to have hypereosinophilia due to neoplasia?

Those with solid tumors Signup and view all the answers

The consensus definition of hypereosinophilic syndrome includes which of the following criteria?

Organ dysfunction attributable to eosinophilia Signup and view all the answers

What is the typical treatment strategy for drug hypersensitivity related eosinophilia?

Avoidance of the drug or supplement Signup and view all the answers

Which potential cause of eosinophilia should always be considered due to its worldwide distribution?

Strongyloides infection Signup and view all the answers

Which statement about hypereosinophilic syndromes is accurate?

They represent a heterogenous group of disorders. Signup and view all the answers

Study Notes

Approach to the Patient with Suspected Hypereosinophilic Syndrome

Hypereosinophilic syndromes (HES) are a heterogeneous group of rare disorders with diverse clinical presentations. Symptoms range from fatigue to life-threatening conditions like endomyocardial fibrosis and thromboembolic events.

Hypereosinophilic Syndromes (HES)

HES are rare disorders manifested as eosinophilia.
Eosinophilia, defined as an absolute eosinophil count (AEC) greater than 0.45 x 10⁹/L, is relatively common (1-2% of the general population)
Hypereosinophilia (HE), characterized by an AEC ≥ 1.5 x 10⁹/L, is considered extremely rare (0.315 to 6.3 per 100,000 in the US).

Disorders Associated with Marked Eosinophilia

Atopic disorders: Asthma, chronic rhinosinusitis, atopic dermatitis.
Drug hypersensitivity: Various drug reactions, eosinophilia-myalgia syndrome.
Infections and infestations: Helminth infections, fungal infections, viral infections (HIV, COVID-19), ectoparasite infestations, protozoal infections (limited to Sarcocystis and Cystoisospora).
Autoimmune and immunodysregulatory disorders: Inflammatory bowel disease, sarcoidosis, IgG4-related disease.

Classification of Hypereosinophilic Syndromes

Myeloid HE/HES: Suspected or proven eosinophilic myeloid neoplasm, including cases associated with rearrangements of PDGFRA, and other recurrent molecular abnormalities.
Lymphocytic variant HE/HES: Presence of a clonal or phenotypically aberrant T-cell population producing cytokines driving eosinophilia.
Overlap HES: Single-organ-restricted eosinophilic disorders and clinically defined eosinophilic syndromes that overlap in presentation with idiopathic HES (eosinophilic gastrointestinal disorders, eosinophilic granulomatosis with polyangiitis).
Associated HE/HES: HE/HES in the context of a defined disorder (e.g., helminth infection, neoplasm, immunodeficiency, hypersensitivity reaction).
Familial HE/HES: Occurrence of HE/HES in more than one family member (excluding associated HE/HES).
Idiopathic HE/HES: Unknown cause and exclusion of other subtypes.

Clinical Manifestations

Presentation can range from constitutional symptoms (fatigue, muscle aches, fevers) to pruritus, angioedema, diarrhea, and cough.
Cardiac disease is a major cause of mortality in patients.
Cardiac involvement can manifest as endomyocardial fibrosis, pericarditis, myocarditis, and intramural thrombus formation. Death often results from dilated cardiomyopathy.
Neurological involvement can lead to mononeuritis multiplex, paraparesis, encephalopathy, and dementia.
Pulmonary involvement can comprise pulmonary infiltrates, fibrosis, and pleural disease with effusions.
Gastrointestinal issues can include diarrhea, gastritis, colitis, hepatitis, or the Budd-Chiari syndrome.
Skin conditions like pruritus, angioedema, papules, or plaques may occur. Other tissues, such as the kidneys and bones, may be affected in rare cases.

Mechanisms of Tissue Damage

Tissue damage in eosinophilia is likely linked to eosinophil degranulation and the release of mediators such as eosinophil cationic protein and major basic protein.
Eosinophil mediators predominantly act locally in eosinophil-infiltrated tissues.
Serum tryptase elevation has been linked with clonal eosinophilia, hinting at the possible involvement of other cells (mast cells).

Pathophysiological Classification

Myeloproliferative variant HES: Characterized by male predominance, organ damage, elevated serum tryptase, splenomegaly, anemia, thrombocytopenia, bone marrow myeloproliferation, and reticulin fibrosis. Unresponsive to steroid therapy.
Frequently linked to an interstitial deletion on chromosome 4q12 leading to FIP1L1-PDGFRA fusion, a tyrosine kinase with enhanced activity and sensitivity to low-dose imatinib.

Lymphocytic Variant HES (LHES)

Characterized by a large CD2+ CD3- CD4+ T-cell population that produces interleukin (IL)-4 and IL-5 in response to stimulation.
Equally frequent in males and females.
Frequently involves dermatologic manifestations, and can affect any organ system.
Clonal aberrant T-cells may mimic T cell malignancies.

Diagnosing LHES

Serum IgM, IgE, and serum and thymus and activation-regulated chemokine levels frequently elevated. These levels could provide diagnostic clues.
Identification of clonal and/or aberrant T-cell populations producing type 2 cytokines can be definitive but flow cytometry for this is not frequently available. Other diagnostic tools are often relied upon.

Diagnosis of HES

Complete blood count with differential and smear
Routine chemistries including liver function testing
Quantitative serum immunoglobulins
Serum tryptase and B12 levels
T- and B-cell receptor rearrangements
Flow cytometry and other lymphocyte phenotyping
Serum troponin, electrocardiogram, echocardiogram
Chest/abdomen/pelvis CT
Biopsy of affected tissues, if possible
Pulmonary function tests
Bone marrow aspirate and biopsy
Testing for BCR::ABL1, FIP1L1::PDGFRA, translocations/mutations, JAK2, FGFR1, KIT (NGS)
Genetic testing (e.g., myeloid panel, targeted or whole-exome sequencing, other genetic testing).
Other testing for secondary causes

Approach to Therapy

Secondary causes require unique therapeutic approach (e.g. helminth infections).
The presence and severity of clinical manifestations guide the type and urgency of the treatment selection.

First-Line Treatment

Prednisone is standard in acute and/or severe cases.
Additional therapy depends on suspected clinical subtype. (e.g., imatinib for myeloid neoplasms).
Additional first-line treatments can include corticosteroids.

Subsequent Treatment

After initial stabilization, identifying the likely HES subtype (e.g. myeloid vs others) is critical
Conventional second-line agents typically include agents like hydroxyurea and interferon-α.
Eosinophil-targeting biologics (e.g. mepolizumab, Reslizumab) are other specialized therapeutic agents, but clinical use in the acute setting is controversial.

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Description

Test your knowledge on the clinical manifestations and mechanisms related to cardiac disease and eosinophilia. This quiz covers key symptoms, classifications, and neurological impacts associated with these conditions. Challenge yourself and learn more about the intricacies of eosinophilic disorders.