# Expanding the Spectrum: a case of Giant cell arteritis encountered in familial Mediterranean fever

**Authors:** Rita D Moncayo, Mukhammad B Sultanov, May T H Tun, Fatemeh Mohammadrezaei, Omair A Khan, Diana Gutierrez, Sarita Konka

PMC · DOI: 10.1093/omcr/omae197 · Oxford Medical Case Reports · 2025-02-22

## TL;DR

A 69-year-old man with familial Mediterranean fever showed signs of large vessel vasculitis, suggesting a broader understanding of the disease is needed.

## Contribution

This case expands the known clinical spectrum of familial Mediterranean fever by presenting an atypical presentation involving large vessel vasculitis.

## Key findings

- A PET scan revealed increased uptake in large vessels, suggesting large vessel vasculitis in a patient with FMF.
- The patient's positive response to corticosteroids supports an inflammatory cause for the symptoms.
- The case highlights the need to consider large vessel vasculitis in the differential diagnosis of atypical FMF presentations.

## Abstract

Familial Mediterranean Fever (FMF) is an autoinflammatory genetic disorder causing recurrent fever episodes due to MEFV gene mutations, typically affecting small and medium-sized vessels. We present a 69-year-old male with FMF exhibiting features suggestive of large vessel vasculitis, challenging the conventional understanding of FMF. The patient had an extended fever episode, a self-resolving groin rash, intermittent diarrhea, and a decline in health over six months. A PET scan showed increased uptake in large vessels, especially in the bilateral lower extremities, indicating possible large vessel vasculitis. The patient's positive response to corticosteroid therapy supported an inflammatory etiology. This case underscores the need for a broader differential diagnosis in atypical FMF presentations and suggests further research into the relationship between FMF and large vessel vasculitis.

## Linked entities

- **Genes:** MEFV (MEFV innate immunity regulator, pyrin) [NCBI Gene 4210]
- **Diseases:** Familial Mediterranean Fever (MONDO:0009572), Giant cell arteritis (MONDO:0008538)

## Full-text entities

- **Diseases:** familial Mediterranean fever (MESH:D010505), Giant cell arteritis (MESH:D013700)

## Full text

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## Figures

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## References

7 references — full list in the complete paper: https://tomesphere.com/paper/PMC11845348/full.md

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Source: https://tomesphere.com/paper/PMC11845348