Appendectomy in familial Mediterranean fever: clinical, genetic and pathological findings
1Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Israel. merav.lidar@sheba.health.gov.il
Background:
Abdominal attacks of familial Mediterranean fever (FMF) may simulate acute appendicitis and bring about considerable uncertainty. The similar presentation of the two clinical entities often leads to an unnecessary appendectomy.
Methods:
182 consecutive FMF patients were retrospectively reviewed for this study. Clinical and genetic data was compared between those who had undergone an appendectomy (n=71) and those who had not (n=111).
Results:
The frequency of appendectomy found in FMF was far above the reported rate in the general population (40% vs. 12-25%). The rate of non-inflamed appendectomies was extremely high (80% vs. 20%) and remained constant over time. Tertiary hospitals and improved therapeutic and diagnostic measures that have evolved over the years did not reduce misdiagnosis of acute appendicitis in FMF. Severe phenotype and homozygosity for M694V were identified as risk factors for appendectomy in FMF. A change from the regular diffuse involvement to right lower quadrant abdominal pain was found to be the best predictor of inflamed appendix in FMF patients undergoing appendectomy for suspected acute appendicitis.
Conclusion:
Reliance on clinical parameters should improve diagnostic accuracy of acute appendicitis in the FMF patient population.
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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