Appendectomy in familial Mediterranean fever: clinical, genetic and pathological findings

M Lidar1, A Doron, R Kedem

  • 1Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Israel. merav.lidar@sheba.health.gov.il

Abstract

Insights

Familial Mediterranean Fever (FMF) abdominal attacks often mimic appendicitis, leading to high rates of unnecessary appendectomies. Severe FMF phenotype and M694V homozygosity increase appendectomy risk.

Area of Science:

  • Medical research
  • Clinical diagnostics
  • Genetics

Background:

  • Familial Mediterranean Fever (FMF) presents with abdominal attacks that can be mistaken for acute appendicitis.
  • This diagnostic challenge frequently results in unnecessary appendectomies for FMF patients.

Purpose of the Study:

  • To investigate the diagnostic accuracy of appendicitis in patients with Familial Mediterranean Fever (FMF).
  • To identify risk factors associated with appendectomy in FMF patients.

Main Methods:

  • Retrospective review of 182 consecutive FMF patients.
  • Comparison of clinical and genetic data between patients who underwent appendectomy and those who did not.

Main Results:

  • Appendectomy rates in FMF patients (40%) significantly exceed general population rates (12-25%).
  • A high rate of non-inflamed appendectomies (80%) was observed, with no reduction over time despite improved medical care.
  • Severe FMF phenotype and M694V homozygosity are risk factors for appendectomy; localized right lower quadrant pain predicts inflamed appendix.

Conclusions:

  • Diagnostic accuracy for acute appendicitis in FMF patients can be improved by relying more on clinical parameters.
  • Targeted clinical assessment is crucial to reduce misdiagnosis and unnecessary surgeries in FMF.

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