Familial Mediterranean Fever (FMF): a single centre retrospective study in Amsterdam

Area of Science:

• Auto-inflammatory diseases
• Genetics
• Epidemiology

Background:

• Familial Mediterranean Fever (FMF) is the most common hereditary auto-inflammatory disease.
• Diverse clinical presentations can delay FMF diagnosis and treatment.
• Immigration has increased FMF prevalence in non-Mediterranean Europe.

Purpose of the Study:

• To describe the clinical, demographic, and genetic characteristics of FMF patients in Amsterdam.
• To analyze FMF patient data from different ancestries.
• To compare FMF characteristics in a non-Mediterranean European region with those in Mediterranean areas.

Main Methods:

• Retrospective analysis of FMF patient records meeting Tel-Hashomer criteria.
• Utilized the international disease severity score.
• Performed MEFV gene mutation analysis on a subset of patients.

Main Results:

• 53 FMF patients identified (1990-2012), predominantly of Turkish origin.
• Average diagnostic delay was 8.2 years, with symptom onset at 13.8 years.
• Most common symptoms: peritonitis (91%) and fever (81%); M694V mutation was most frequent.

Conclusions:

• FMF in Amsterdam affects relatively young patients with a significant diagnostic delay.
• Disease manifestations and genetic profiles align with Mediterranean FMF populations.
• Patient ancestry appears more influential than environmental factors in FMF presentation.