Different disease subtypes with distinct clinical expression in familial Mediterranean fever: results of a cluster

Servet Akar1, Dilek Solmaz2, Timucin Kasifoglu3

  • 1Division of Rheumatology, Izmir Kâtip Çelebi University School of Medicine, Izmir, servet.akar@gmail.com.

Abstract

Insights

Three distinct patient groups were identified in Familial Mediterranean Fever (FMF). These subgroups exhibit varied clinical and genetic traits, suggesting different prognoses for FMF patients.

Area of Science:

  • Rheumatology
  • Genetics
  • Internal Medicine

Background:

  • Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder.
  • Understanding clinical heterogeneity in FMF is crucial for prognosis.

Purpose of the Study:

  • To identify distinct clinical subgroups within FMF patients.
  • To investigate potential differences in prognosis among these subgroups.

Main Methods:

  • A cohort of 1168 FMF patients was analyzed.
  • Two-step cluster analysis was performed using clinical and genetic variables.
  • Variables included demographics, disease onset, clinical features, therapy, and M694V genotype.

Main Results:

  • Three distinct FMF patient clusters were identified.
  • Cluster 1: Lower amyloidosis/colchicine dose, higher arthritis/pleuritis/ELE.
  • Cluster 2: Earlier onset, highest M694V/amyloidosis, highest colchicine dose.
  • Cluster 3: Lowest arthritis/ELE, lower M694V/amyloidosis, lower colchicine non-response.

Conclusions:

  • FMF patients can be classified into distinct clinical and genetic patterns.
  • These identified patterns may hold prognostic significance for disease outcomes.

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