Background 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).
Objectives We compared the duration of delay in diagnosis before and after year 2000, and assessed the problems related with the diagnosis of FMF.
Methods 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.
Results 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.
Conclusions 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)
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.
Disclosure of Interest None declared