ACR Meeting Abstracts

ACR Meeting Abstracts

Abstract Number: 2103

Problems in the Diagnosis of Familial Mediterranean Fever in Turkey

Mustafa Erdogan1, Yesim Ozguler1, Elif Dincses2, Sinem Nihal Esatoglu1, Gul Guzelant1, Guzin Karatemiz1, Serdal Ugurlu3, Gulen Hatemi1, Huri Ozdogan1, Hasan Yazici1 and Emire Seyahi1, 1Istanbul University, Cerrahpasa Medical Faculty, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, 2Istanbul University, Cerrahpasa Medical Faculty, Department of Internal Medicine, Division of Rheumatology, İstanbul, Turkey, 3Rheumatology, Istanbul University, Cerrahpasa Medical Faculty, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey

Meeting: 2017 ACR/ARHP Annual Meeting

Date of first publication: September 18, 2017

Keywords:

Session Information

Date: Tuesday, November 7, 2017

Title: Miscellaneous Rheumatic and Inflammatory Diseases Poster II

Session Type: ACR Poster Session C

Session Time: 9:00AM-11:00AM

PROBLEMS IN THE DIAGNOSIS OF FAMILIAL MEDITERRANEAN FEVER (FMF) IN TURKEY

Background/Purpose: The diagnosis of FMF can be missed or delayed even in a country like Turkey, an endemic region for FMF (1). We compared the duration of delay in diagnosis before and after year 2000, and assessed the problems related to a late diagnosis of FMF. 

Methods: We studied 177 (104 F, 73 M) consecutive patients with FMF seen at our rheumatology outpatient clinic. Patients completed a self-administered questionnaire that assessed initial symptoms, previous diagnoses and treatments received before a formal diagnosis of FMF. Patients were divided in 2: Group 1, which included 128 patients seen for the first time by a physician before 2000 and Group 2, which included 49 patients seen in or after year 2000.

Results: The median age of the patients was 33 years [IQR:26-43]. The initial symptom was abdominal pain in the majority (n = 156, 88 %), followed by fever (n=139, 79%), arthritis (n=123, 69%) and pleuritic pain (n=53, 30%).

The median age at initial symptom was 8 years (IQR:5-14). The median delay in diagnosis was 11 years (IQR:4-18). This was significantly shorter in Group 2 (med. 4 years) than that observed in Group 1 (med. 15 years) as shown in Table.

A total of 146 patients (82 %) were diagnosed with one or more diseases other than FMF. These were appendicitis (n=79, 45 %), acute rheumatic fever (n=65, 37 %), gastro-intestinal diseases (n= 42, 23 %),  inflammatory arthritis (n=28, 16 %), kidney stones (n=18, 10 %), gynecological diseases (n=15, 8 %) and others (n= 14, 8 %). As shown in Table, the frequency of patients with misdiagnosis, was lower in Group 2 (76 %) compared to Group 1 (85 %).

A total of  88 patients (50 %) received other long-term treatments, mainly monthly penicillin (n=48), prior to colchicine. There were 53 surgical interventions in 48 patients (27%), before the diagnosis of FMF, the most common being appendectomy in 45, followed by gastrointestinal tract surgeries (2 gastrectomies, 2 cholecystectomies, 2 intestinal herniation operations) in 6. It was noted that, the frequency of surgical operations was somewhat less in Group 2 (22 %) compared to Group 1 (30%) (Table). 

The presence or absence of MEFV mutations was assessed in 69 patients (39 %) before the diagnosis or after to confirm the diagnosis. As expected, this was significantly more frequent in Group 2 (51 %) compared to Group 1 (34 %) (Table).

73 patients (41%) were diagnosed as FMF only after it was found out someone else in the family or a friend had a similar diagnosis. The frequency of these patients was similar when Group 1 and 2 were compared

Table: Demographic and clinical characteristics of patients

Group 1, (n=128)

Group 2, (n=49)

p

Male/Female

48/80

25/24

Non-significant 

Current age, med [IQR]

40[31-51.5]

32[24.5-38]

<0.001

Delay in dx, med [IQR]

15 [8-22]

4 [1-9]

<0.001

Misdiagnosed, n (%)

       Appendicitis, n (%)

       ARF, n (%)

       Gastro-intestinal diseases, n (%)

       Inflammatory arthritis , n (%)

       Kidney stones , n (%)

       Gynecological diseases , n (%)

       Others , n (%)

109 (85)

59(46)

54(42)

30(23)

22(17)

15(12)

11(9)

14(11)

37 (76)

20(41)

11(9)

12(9)

6(12)

3(6)

4(8)

–

0.013

Surgery before dx, n (%)

         Appendectomy

         Gastrointestinal Surgery

         Gynecological surgeries

         Others

37(30)

34(27)

6

1

1

11(22)

11(22)

–

–

–

0.3

Penicilin treatment, n (%)

43(34)

5(10)

0.002

Dx’ed after seeing another person’s dx, n (%)

50(39)

23(47)

0.5

MEFV Gene analyses available

44(34)

25(51)

0.035

Conclusion: Although there is considerable decrease in delayed diagnosis of FMF, there is still a significant amount of misdiagnoses after the year 2000, even in a geography where FMF is highly prevalent.

Reference: 1) 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: M. Erdogan, None; Y. Ozguler, None; E. Dincses, None; S. N. Esatoglu, None; G. Guzelant, None; G. Karatemiz, None; S. Ugurlu, None; G. Hatemi, None; H. Ozdogan, None; H. Yazici, None; E. Seyahi, None.

To cite this abstract in AMA style:

Erdogan M, Ozguler Y, Dincses E, Esatoglu SN, Guzelant G, Karatemiz G, Ugurlu S, Hatemi G, Ozdogan H, Yazici H, Seyahi E. Problems in the Diagnosis of Familial Mediterranean Fever in Turkey [abstract]. Arthritis Rheumatol. 2017; 69 (suppl 10). https://acrabstracts.org/abstract/problems-in-the-diagnosis-of-familial-mediterranean-fever-in-turkey/. Accessed .

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