# The Silent Culprit: Paroxysmal Nocturnal Hemoglobinuria Masquerading as Cryptogenic Stroke

**Authors:** Aaron S Sidhu, Harneet Grewal, Joey Bettencourt, Riya Sharma

PMC · DOI: 10.7759/cureus.84930 · Cureus · 2025-05-27

## TL;DR

A young man with unexplained strokes was found to have a rare blood disorder called PNH, which can cause unusual clotting and mimic other conditions.

## Contribution

Highlights PNH as a rare but important cause of cryptogenic stroke, especially in young patients.

## Key findings

- PNH can present with arterial thromboembolic events, not just venous thrombosis.
- Recurrent strokes without clear causes may be linked to undiagnosed PNH.
- Early diagnosis and treatment of PNH can improve outcomes in such cases.

## Abstract

We present a case of a previously healthy 20-year-old male patient who experienced recurrent arterial thromboembolic events without identifiable risk factors. Extensive evaluation ultimately revealed paroxysmal nocturnal hemoglobinuria (PNH), a rare clonal hematopoietic disorder. While PNH is classically associated with venous thrombosis, arterial thromboembolic events are uncommon and may obscure the diagnosis, especially in young patients without underlying vascular risk factors.

Clinicians should maintain awareness of PNH’s variable presentation and its potential to masquerade as more common thrombotic or autoimmune conditions. Early recognition and appropriate therapy can prevent further complications and improve patient outcomes. This case contributes to the growing recognition of arterial events as a possible manifestation of PNH and reinforces the value of comprehensive diagnostic evaluation in cases of recurrent stroke without an obvious cause.

## Linked entities

- **Diseases:** paroxysmal nocturnal hemoglobinuria (MONDO:0100244), stroke (MONDO:0005098)

## Full-text entities

- **Diseases:** clonal hematopoietic disorder (MESH:D019337), venous thrombosis (MESH:D020246), Cryptogenic Stroke (MESH:D000083242), stroke (MESH:D020521), thrombotic (MESH:D013927), autoimmune conditions (MESH:D001327), PNH (MESH:D006457), thromboembolic (MESH:D013923)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

6 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12203296/full.md

## References

11 references — full list in the complete paper: https://tomesphere.com/paper/PMC12203296/full.md

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Source: https://tomesphere.com/paper/PMC12203296