# Scrotal Pain in Familial Mediterranean Fever: A Series of Three Case Reports and Literature Review

**Authors:** Amr Bahaa, Anati Nour, Atawneh Hamza, Gharaibiah Mohammad, Altell Kenana, Ghandi Lama, Abunejma Fawzi

PMC · DOI: 10.31138/mjr.180425.tar · Mediterranean Journal of Rheumatology · 2025-09-15

## TL;DR

Testicular pain can be the only symptom of Familial Mediterranean Fever, a hereditary condition, highlighting the need for early diagnosis through genetic testing.

## Contribution

This case series highlights testicular pain as an unusual and sole presenting symptom of Familial Mediterranean Fever (FMF).

## Key findings

- Three male patients presented with testicular pain as the only symptom of FMF.
- FMF was confirmed in all cases through genetic testing and inflammatory marker assessment.
- Recognizing this atypical presentation can prevent misdiagnosis and improve outcomes.

## Abstract

Testicular pain is a common symptom with many differential diagnoses, but it can also be an unexpected and only presenting symptom of Familial Mediterranean Fever (FMF), which is a hereditary autoinflammatory disorder derived by cytokines, primarily characterised by recurrent episodes of fever, abdominal pain, and arthritis. In this case series, we report three male patients who initially sought medical attention for testicular pain, which was their only complaint. Some of these patients do not initially exhibit the typical presentation of FMF, making the diagnosis slightly challenging. Through comprehensive diagnostic evaluation, including genetic testing for mutations in the MEFV gene and assessment of inflammatory markers, FMF was confirmed in all the cases. These findings underscore the importance of considering FMF in the differential diagnosis of testicular pain, particularly in individuals with a family history of this disease or Mediterranean ancestry, in order to facilitate early diagnosis and appropriate treatment. Recognising this unusual presentation of FMF can help avoid misdiagnosis and improve patient outcome and prognosis.

## Linked entities

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

## Full-text entities

- **Genes:** MEFV (MEFV innate immunity regulator, pyrin) [NCBI Gene 4210] {aka FMF, MEF, PAAND, TRIM20}
- **Diseases:** hereditary autoinflammatory disorder (MESH:D056660), FMF (MESH:D010505), inflammatory (MESH:D007249), fever (MESH:D005334), arthritis (MESH:D001168), abdominal pain (MESH:D015746), Scrotal Pain (MESH:D010146)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

15 references — full list in the complete paper: https://tomesphere.com/paper/PMC12536748/full.md

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Source: https://tomesphere.com/paper/PMC12536748