Adult‐Diagnosed NLRP3‐Associated Autoinflammatory Disease Presenting With Blurry Vision and Elevated Serum Amyloid A
Ecem Kalemoglu, Deepankar Pathak, Valentin Marian · 2026
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Description
Ecem Kalemoglu, Deepankar Pathak, and Valentin Marian report a late diagnosis of a rare swelling disease. Their 2026 case deals with a disorder tied to a gene called NLRP3. Faults in it fire up a body system that makes a potent swelling signal. Diagnosis is hard because signs vary and some faults are hidden or weak.
The patient was a woman aged fifty nine with seizures, dry eyes, and hearing loss in both ears. She came in with one week of painless blurry vision in her right eye. She had a lifelong rash like hives, set off by cold and by fasting. Kin had like rashes. Two close relatives had the confirmed illness and were treated with drugs that block the swelling signal. Eye checks showed optic nerve swelling.
Catalog record
| CREATOR | Ecem Kalemoglu, Deepankar Pathak, Valentin Marian |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 6 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |