# When Blood Cell Counts Matter: Hypereosinophilic Syndrome as a Rare Cause of Ischemic Strokes

**Authors:** Gunjanpreet Kaur, Wilson Rodriguez, Yoan Ganev, Divya Singh, Adam Awad, Lissette Orozco, Rachel Overberg, Randall C Edgell

PMC · DOI: 10.7759/cureus.60557 · Cureus · 2024-05-18

## TL;DR

A rare blood disorder called hypereosinophilic syndrome (HES) can cause strokes due to increased blood clotting, and early detection through blood tests is crucial for effective treatment.

## Contribution

This case report highlights HES as a rare but important cause of ischemic strokes and emphasizes the value of revisiting basic lab tests like CBC in stroke workups.

## Key findings

- A patient with unexplained strokes was diagnosed with HES through CBC and bone marrow biopsy.
- The patient's HES was caused by the FIP1L1-PDGFRA fusion gene and responded well to imatinib.
- Strokes in this case were likely due to hypercoagulability rather than thromboembolism.

## Abstract

Hypereosinophilic syndrome (HES) is a rare condition characterized by elevated eosinophil counts (>1.5 x 109 on two consecutive measurements), which are of myeloid clonal in origin or are driven by excess cytokines. One subtype of HES exhibits the Fip1-like 1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRA) fusion gene, a gain-of-function mutation resulting in a hyperactive tyrosine kinase. HES, especially the FIP1L1-PDGFRA variant, exhibits an excellent response to chemotherapy with imatinib. In this report, we present a 38-year-old patient with no contributory past medical history who experienced sudden-onset fatigue, ataxia, visual changes, and headaches. He was found to have multiple small acute infarcts in his cerebrum and cerebellum. A stroke work-up, including transthoracic echocardiogram (TTE), transesophageal echocardiogram (TEE), and computed tomography angiography (CTA), did not yield insight into the origin of his infarcts. On CBC, he was consistently hypereosinophilic, and a bone marrow biopsy revealed hypercellularity and the FIP1L1-PDGFRA fusion gene, confirming the diagnosis of HES. The patient was treated first with methylprednisolone and then imatinib with excellent response. It appears that, in our patient, strokes were not of a thromboembolic nature but rather due to hypercoagulability. In this report, we advocate for considering HES and emphasize the importance of revisiting basic laboratory studies such as a CBC if the standard stroke workup fails to elucidate the mechanism behind ischemic strokes with an embolic pattern.

## Linked entities

- **Chemicals:** imatinib (PubChem CID 5291), methylprednisolone (PubChem CID 6741)
- **Diseases:** hypereosinophilic syndrome (MONDO:0015691)

## Full-text entities

- **Genes:** PDGFRA (platelet derived growth factor receptor alpha) [NCBI Gene 5156] {aka CD140A, PDGFR-2, PDGFR2}, FIP1L1 (factor interacting with PAPOLA and CPSF1) [NCBI Gene 81608] {aka FIP1, Rhe, hFip1}
- **Diseases:** thromboembolic (MESH:D013923), Ischemic Strokes (MESH:D002544), stroke (MESH:D020521), infarcts (MESH:D007238), HES (MESH:D017681), ataxia (MESH:D001259), fatigue (MESH:D005221), headaches (MESH:D006261), hypercoagulability (MESH:D019851), visual changes (MESH:D014786)
- **Chemicals:** imatinib (MESH:D000068877), methylprednisolone (MESH:D008775)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

19 references — full list in the complete paper: https://tomesphere.com/paper/PMC11181245/full.md

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Source: https://tomesphere.com/paper/PMC11181245