Familial Mediterranean Fever: An Autoinflammatory Genetic Disorder

A man in his 30s with a past medical history of fever episodes of unknown origin associated with abdominal and chest pain, arthralgias, and two episodes of aseptic meningitis, beginning at teenage, presented at the emergency department with similar symptoms and tinnitus with one week of evolution. A physical examination revealed left peripheral facial paresis and bilateral sensorineural deafness. From the etiological investigation, numerous tests were conducted to rule out infectious, paraneoplastic, and immune disorders, all of which yielded unremarkable results. He began a high dose of corticosteroids, leading to complete clinical recovery. Monogenic autoinflammatory syndrome disease was suspected. A genetic test confirmed the diagnosis of familial Mediterranean fever. He began taking colchicine daily without any complications. To avoid future complications, the authors aim to emphasize the importance of recognizing this rare cause of fever.

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Publication Details

Journal
Cureus
Published
2024-09-21
DOI
https://doi.org/10.7759/cureus.69856
Primary Topic
Inflammasome and immune disorders
Type
article
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article

Familial Mediterranean Fever: An Autoinflammatory Genetic Disorder

Rafaela Lopes Freitas, Nídia Pereira, Adelina Pereira
Cureus
Inflammasome and immune disorders
article

Familial Mediterranean Fever: An Autoinflammatory Genetic Disorder

Rafaela Lopes Freitas, Nídia Pereira, Adelina Pereira
article en

Abstract

A man in his 30s with a past medical history of fever episodes of unknown origin associated with abdominal and chest pain, arthralgias, and two episodes of aseptic meningitis, beginning at teenage, presented at the emergency department with similar symptoms and tinnitus with one week of evolution. A physical examination revealed left peripheral facial paresis and bilateral sensorineural deafness. From the etiological investigation, numerous tests were conducted to rule out infectious, paraneoplastic, and immune disorders, all of which yielded unremarkable results. He began a high dose of corticosteroids, leading to complete clinical recovery. Monogenic autoinflammatory syndrome disease was suspected. A genetic test confirmed the diagnosis of familial Mediterranean fever. He began taking colchicine daily without any complications. To avoid future complications, the authors aim to emphasize the importance of recognizing this rare cause of fever.

CureusVol. 16(9)
Hospital Pedro Hispano (PT)
Openalex Percentile: Top 86%
Inflammasome and immune disorders
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Familial Mediterranean Fever: An Autoinflammatory Genetic Disorder — Rafaela Lopes Freitas, Nídia Pereira, et al. · Cureus (2024) | TGRS Research Map | TGRS