FRI0610 Problems in the diagnosis of familial mediterranean fever in turkey
Authors: M Erdoğan, Y Özgüler, G Karatemiz, SN Esatoğlu, G Güzelant, E Dinçes, S Uğurlu, G Hatemi, H Özdoğan, E Seyahi
Journal: Annals of the Rheumatic Diseases (2017)

<h3>Background</h3> The diagnosis of FMF (Familial Mediterranean Fever) can be missed or delayed even in a country like Turkey, one of the most prevalent places for FMF (1). <h3>Objectives</h3> We compared the duration of delay in diagnosis before and after year 2000, and assessed the problems related with the diagnosis of FMF. <h3>Methods</h3> We studied 143 (102 F, 41 M) consecutive patients with FMF seen at the rheumatology outpatient clinic, between November 2016 and January 2017. Patients completed a self-administered questionnaire that assesses initial symptoms, previous diagnosis and treatments received before the formal diagnosis of FMF. Patients were divided in 2: as Group 1, which includes 70 patients seen for the first time by a physician before 2000 and Group 2, which includes 73 patients seen after 2000. <h3>Results</h3> The median age of the patients was 34 years [IQR:27–45]. The F/M ratio was 2.4. The initial symptom was abdominal pain in the majority (n=134, 89%), followed by fever (n=114, 75%), arthritis (n=66, 44%), pleuritic pain (n=21, 14%), arthralgia (n=11, 7%) and other complaints (n=14, 9%). The median age at initial symptom was 10 years (IQR:6–23). The median delay in diagnosis was 8 years [IQR:2–15]. This was significantly shorter in Group 2 (median: 4 years [IQR:0–11]) than that observed in Group 1 (median: 10 years [IQR:6–17]), as shown in Table. A total of 110 patients (73%) were diagnosed with one or more diseases or syndromes other than FMF. These were appendicitis (n=50, 45%), gastro-intestinal diseases (n=44, 40%), acute rheumatic fever (n=36, 33%), inflammatory arthritis (n=18, 16%), gynecological diseases (n=11, 10%) kidney stones (n=9, 8%) and others (n=34, 31%). As shown in Table, the frequency of patients with misdiagnosis, was significantly lower in Group 2 (66%) compared to Group 1 (84%). A total of 59 patients (39%) received other long-term treatments, mainly monthly penicillin (n=28), prior to colchicine. There were 41 surgical interventions in 36 patients (24%), before the diagnosis of FMF, the most common being appendectomy in 31, gyneacological operations in 5, cholecystectomy in 3 and others in 2 occasions. It was noted that, the frequency of surgical operations was significantly decreased in Group 2 (12%) compared to Group 1 (27%) (Table). The presence or absence of MEFV mutations was assessed in 69 patients (46%) before the diagnosis or after to reinforce the diagnosis. As expected, this was significantly more frequent in Group 2 (59%) compared to Group 1 (33%) (Table). Seventy patients (46%) were diagnosed as FMF only after someone else in the family (n=44) or a friend (n=26) had a similar diagnosis. The frequency of these patients was similar when Group 1 and 2 were compared. <h3>Conclusions</h3> Although there is considerable decrease in delayed diagnosis of FMF, there is still significant amount of misdiagnoses after the year 2000, even in a geography where FMF is highly prevalent. Table: Demographic and clinical characteristics of Group 1 (patients seen before 2000) and Group 2 (patients seen after 2000) <h3>References</h3> Tunca M et al; Turkish FMF Study Group.Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore). 2005 Jan;84(1):1–11. <h3>Disclosure of Interest</h3> None declared