SHM Converge Scientific Abstract ePoster Gallery-Rare Case of Primary Hypereosinophilic Syndrome

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This case report describes a 38-year-old man with no major past medical history who presented with stroke-like symptoms, including fatigue, blurry vision, ataxia, headache, and numbness. Brain MRI showed multiple small acute infarcts in both the cerebral and cerebellar hemispheres. Initial vascular and cardiac workup, including CTA, echocardiogram, and TEE, was unrevealing. Laboratory testing revealed marked eosinophilia, with eosinophils around 41% and an absolute eosinophil count of 9.05 × 10^9/L.<br /><br />Despite treatment with corticosteroids and broad empiric therapies for possible infectious causes, the patient developed worsening encephalopathy, confusion, and aggression. Bone marrow biopsy eventually demonstrated hypereosinophilia with an FIP1L1-PDGFRA rearrangement caused by deletion of the CHIC2 gene on chromosome 4q12, confirming primary hypereosinophilic syndrome (HES), a clonal eosinophilic disorder. Because FIP1L1-PDGFRA-positive HES is typically steroid-refractory, imatinib was started and led to a rapid and dramatic response: eosinophil count dropped from 13,000/µL to 700/µL and white blood cell count from 45 × 10^9/L to 4.8 × 10^9/L within days.<br /><br />The patient experienced significant physical and cognitive improvement and was discharged with rehabilitation, hematology-oncology follow-up, and ongoing imatinib and Eliquis. The report highlights that primary HES can cause serious multi-organ damage, including neurologic and cardiac complications, and may present atypically as acute stroke. Early recognition of eosinophilia and prompt molecular testing are essential, since FIP1L1-PDGFRA-positive disease responds well to imatinib and timely treatment improves survival.

Asset Subtitle

Cathy Chi

Meta Tag

Author List Ayesha Mohan, Cathy Chi, Farzana Hoque

Category Clinical Vignettes

Concept Primary Hypereosinophilic Syndrome

Concept FIP1L1-PDGFRA Mutation

Concept Imatinib

Concept Eosinophilia

Concept Organ damage

Distinguished Finalist

Presenter Organization Saint Louis University School of Medicine

Presenting Author Cathy Chi

Track Adult

Keywords

hypereosinophilic syndrome

FIP1L1-PDGFRA rearrangement

eosinophilia

acute stroke

brain infarcts

imatinib

CHIC2 deletion

neurologic complications

clonal eosinophilic disorder

corticosteroid-refractory

Primary Hypereosinophilic Syndrome

FIP1L1-PDGFRA Mutation

Imatinib

Eosinophilia

Organ damage