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Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study

Farhad Salehzadeh1, Ahad Azami2, Maryam Motezarre1

  • 1Pediatric Department, Bouali Children's Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran.

Open Access Rheumatology : Research and Reviews
|February 6, 2020
PubMed
Abstract

Insights

Familial Mediterranean Fever (FMF) patients show varied neurological symptoms, with headache being most common. Epilepsy prevalence is higher in FMF patients, especially those without MEFV gene mutations.

Area of Science:

  • Neurology
  • Genetics
  • Rheumatology

Background:

  • Familial Mediterranean Fever (FMF) is an autosomal recessive periodic auto-inflammatory disease.
  • Understanding FMF's neurological manifestations and genotype-phenotype correlations is crucial.

Purpose of the Study:

  • To investigate the spectrum of neurological manifestations in FMF patients.
  • To explore genotype-phenotype correlations in FMF.

Main Methods:

  • A case series study involving 311 FMF patients from the FMF Registration Center in Iran.
  • Data collected via questionnaires and analyzed using SPSS software.
  • Twelve common MEFV gene analyses were performed.

Main Results:

  • 187 out of 311 patients (60.1%) had MEFV gene mutations.
  • Headache was the most frequent neurological symptom (47.26%), followed by vertigo (26.7%) and paresthesia (23.2%).
  • Epilepsy prevalence was higher in FMF patients compared to the general population.

Conclusions:

  • Epilepsy is significantly more prevalent in FMF patients.
  • Headache, paresthesia, breath-holding, and ataxia were frequent in FMF patients without MEFV mutations.
Keywords:
MEFV genebreathe holdingepilepsyfamilial mediterranean feverheadachemigraineparesthesia

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