Familial Mediterranean Fever: An Autoinflammatory Genetic Disorder.

Cureus

Internal Medicine Service, Pedro Hispano Hospital, Matosinhos Local Health Unit, Matosinhos, PRT.

Published: September 2024

AI Article Synopsis

  • A man in his 30s with a history of fever, abdominal pain, and meningitis symptoms presented to the ER with new symptoms including tinnitus and left facial weakness.
  • Numerous tests were performed to rule out infections and other disorders but returned normal results.
  • He was treated with high-dose corticosteroids, which led to full recovery, and a genetic test diagnosed him with familial Mediterranean fever, for which he started a daily colchicine regimen.

Article 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11493204PMC
http://dx.doi.org/10.7759/cureus.69856DOI Listing

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