Disease Directory Hypereosinophilic Syndrome
Immune

Hypereosinophilic Syndrome

Also known as: HES, idiopathic hypereosinophilia, FIP1L1-PDGFRA HES

Prevalence

0.5-1 in 100,000

Onset

Any age; myeloid/neoplastic HES peaks in 4th-5th decade; lymphocytic HES variable

Type

Eosinophilic disorder (myeloproliferative or lymphocytic variant)

Gene

FIP1L1-PDGFRA (subset)

About Hypereosinophilic Syndrome

Hypereosinophilic Syndrome is defined by persistent blood eosinophilia exceeding 1,500 cells per microliter with evidence of eosinophil-mediated organ damage, encompassing heterogeneous subtypes including the FIP1L1-PDGFRA fusion-driven myeloid variant (highly responsive to imatinib), lymphocyte-variant HES (driven by aberrant IL-5-secreting T-cell clones), and idiopathic HES where no underlying cause is identified. End-organ damage from eosinophilic infiltration and granule protein deposition can affect the heart (Loeffler endocarditis), nervous system, skin, and lungs. Mepolizumab (anti-IL-5) has demonstrated efficacy and is approved for HES in patients without FIP1L1-PDGFRA.

Common Clinical Features

Persistent eosinophilia >1,500/µL on two occasions Loeffler endocarditis with endomyocardial fibrosis Peripheral neuropathy and CNS thromboemboli Chronic urticaria, angioedema, and pruritus Pulmonary infiltrates and pleural effusions Splenomegaly (particularly in myeloid variant) Constitutional symptoms (fatigue, fever, weight loss)

Clinical Trial Eligibility Tips

What to know before applying to Hypereosinophilic Syndrome trials.

HES subtype classification (myeloid/FIP1L1-PDGFRA, lymphocytic, idiopathic) determines trial eligibility; FIP1L1-PDGFRA FISH or RT-PCR testing and T-cell clonality studies are required before applying

Anti-IL-5 therapy trials (mepolizumab, benralizumab) typically exclude FIP1L1-PDGFRA positive patients who should instead be on imatinib; confirm and document fusion gene status

Cardiac screening with echocardiography is mandatory in most trials given risk of Loeffler endocarditis; provide most recent echo with ejection fraction and valvular assessment

Patient Resources

Patient Organization

The Mast Cell Disease Society

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Orphanet

European reference resource for rare diseases (ORPHA:168956)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Hypereosinophilic Syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Hypereosinophilic Syndrome. Updated daily.

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