Familial Mediterranean Fever (FMF) in Turkey: Results of a nationwide multicenter study

Mehmet Tunca, Huri Ozdogan, Ozgur Kasapcopur, Fatos Yalcinkaya, Ercan Tutar, Rezan Topaloglu, Engin Yilmaz, Mustafa Arici, Aysin Bakkaloglu, Nesrin Besbas, Tekin Akpolat, Ayhan Dinc, Eren Erken, Kazim Tirpan, Huseyin T.E. Ozer, Mujde Soyturk, Taskin Senturk, Banu Balci, Meral Ozguc, Munis DundarEce Akar, Duygu Ozel, Munis Dundar, Ramazan Gunesacar, David R. Booth, Philip N. Hawkins, Isabelle Touitou, Ivona Aksentijevich, Yakov Matzner, Serap Arslan, Yasemin Balaban, Figen Batman, Yusuf Bayraktar, Sule Apras, Meral Calguneri, Ali Duzova, Taylan Kav, Fatih Ozaltin, Halis Simsek, Bulent Sivri, Gonca Tatar, Nurullah Akkoc, Salih Kavukcu, Alper Soylu, Mehmet Turkmen, Erbil Unsal, Nil Arisoy, Salim Caliskan, Feride Gogus, Seval Masatlioglu, Lale Sever, Nermin Akkok, Nilgun Cakar, Nazli Kara, Hulusi Kocak, Sila Ozalp, Ilmay Bilge, Emre Sevinc, Ahmet Gul, Sevil Kamali, Banu Sadikoglu, Fatih Selcukbiricik, Aydan Sirin, Aysegul Sucu, Kenan Bek, Mehmet Bulbul, Ali Delibas, Gulay Demircin, Ozlem Erdogan, Ayse Oner, Ekim Mesiha, Nuray Ozkaya, Mustafa Tekin, Erkan Demirkaya, Hakan Erdem, Faysal Gok, Salih Pay, Ismail Islek, Yasemin Kabasakal, Gokhan Keser, Mustafa Ozmen, Emel Akoglu, Pamir Atagunduz, Haner Direskeneli, Musa Temel, Serhan Tuglular, Necla Buyan, Sevcan Bakkaloglu, Ulver Derici, Berna Goker, Suleyman Kalman, Ozan Ozkaya, Ruhan Dusunsel, Zubeyde Gunduz, M. Hakan Poyrazoglu, Cengiz Korkmaz, Esra Baskin, Hamide Kart Koseoglu, Umit Saatci, Eftal Yucel, Erkan Coban, Gulsen Yakupoglu, Faruk Oktem, Ercan Tunc, Veli Cobankara

Research output: Contribution to journalArticle

477 Citations (Scopus)

Abstract

Familial Mediterranean fever (FMF) is an autosomal recessive disease that is prevalent among eastern Mediterranean populations, mainly non-Ashkenazi Jews, Armenians, Turks, and Arabs. Since a large proportion of all the FMF patients in the world live in Turkey, the Turkish FMF Study Group (FMF-TR) was founded to develop a patient registry database and analyze demographic, clinical, and genetic features. The cohort was composed of 2838 patients (mean age, 23.0 ± 13.33 yr; range, 2-87 yr), with a male:female ratio of 1.2:1. There was a mean period of 6.9 ± 7.65 years from disease onset to diagnosis; the period was about 2 years shorter for each decade since 1981. Ninety-four percent of patients were living in the central-western parts of the country; however, their familial origins (70% from the central-eastern and Black Sea regions) reflected not only the ongoing east to west migration, but also the historical roots of FMF in Turkey. Patients' clinical features included peritonitis (93.7%), fever (92.5%), arthritis (47.4%), pleuritis (31.2%), myalgia (39.6%), and erysipelas-like erythema (20.9%). Arthritis, arthralgia, myalgia, and erysipelas-like erythema were significantly more frequent (p < 0.001) among patients with disease onset before the age of 18 years. Genetic analysis of 1090 patients revealed that M694V was the most frequent mutation (51.4%), followed by M680I (14.4%) and V726A (8.6%). Patients with the M694V/M694V genotype were found to have an earlier age of onset and higher frequencies of arthritis and arthralgia compared with the other groups (both p < 0.001). In contrast to other reported studies, there was no correlation between amyloidosis and M694V homozygosity in this cohort. However, amyloidosis was still remarkably frequent in our patients (12.9%), and it was prevalent (27.8%) even among the 18 patients with a disease onset after age 40 years. Twenty-two patients (0.8%) had nonamyloid glomerular diseases. The high prevalence of vasculitides (0.9% for polyarteritis nodosa and 2.7% for Henoch-Schönlein purpura) and high frequency of pericarditis (1.4%) were striking findings in the cohort. Phenotype II cases (those patients with amyloidosis as the presenting or only manifestation of disease) were rare (0.3% or less). There was a high rate of a past diagnosis of acute rheumatic fever, which suggested a possible misdiagnosis in children with FMF presenting with recurrent arthritis. To our knowledge, this is the largest series of patients with FMF reported from 1 country. We describe the features of the disease in the Turkish population and show that amyloidosis is still a substantial problem.

Original languageEnglish (US)
Pages (from-to)1-11
Number of pages11
JournalMedicine
Volume84
Issue number1
DOIs
StatePublished - Jan 1 2005
Externally publishedYes

Fingerprint

Familial Mediterranean Fever
Turkey
Multicenter Studies
Amyloidosis
Arthritis
Age of Onset
Erysipelas
Myalgia
Arthralgia
Erythema
Black Sea
Schoenlein-Henoch Purpura
Jews
Polyarteritis Nodosa
Pleurisy
Pericarditis
Rheumatic Fever
Rare Diseases
Vasculitis
Diagnostic Errors

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Tunca, M., Ozdogan, H., Kasapcopur, O., Yalcinkaya, F., Tutar, E., Topaloglu, R., ... Cobankara, V. (2005). Familial Mediterranean Fever (FMF) in Turkey: Results of a nationwide multicenter study. Medicine, 84(1), 1-11. https://doi.org/10.1097/01.md.0000152370.84628.0c

Familial Mediterranean Fever (FMF) in Turkey : Results of a nationwide multicenter study. / Tunca, Mehmet; Ozdogan, Huri; Kasapcopur, Ozgur; Yalcinkaya, Fatos; Tutar, Ercan; Topaloglu, Rezan; Yilmaz, Engin; Arici, Mustafa; Bakkaloglu, Aysin; Besbas, Nesrin; Akpolat, Tekin; Dinc, Ayhan; Erken, Eren; Tirpan, Kazim; Ozer, Huseyin T.E.; Soyturk, Mujde; Senturk, Taskin; Balci, Banu; Ozguc, Meral; Dundar, Munis; Akar, Ece; Ozel, Duygu; Dundar, Munis; Gunesacar, Ramazan; Booth, David R.; Hawkins, Philip N.; Touitou, Isabelle; Aksentijevich, Ivona; Matzner, Yakov; Arslan, Serap; Balaban, Yasemin; Batman, Figen; Bayraktar, Yusuf; Apras, Sule; Calguneri, Meral; Duzova, Ali; Kav, Taylan; Ozaltin, Fatih; Simsek, Halis; Sivri, Bulent; Tatar, Gonca; Akkoc, Nurullah; Kavukcu, Salih; Soylu, Alper; Turkmen, Mehmet; Unsal, Erbil; Arisoy, Nil; Caliskan, Salim; Gogus, Feride; Masatlioglu, Seval; Sever, Lale; Akkok, Nermin; Cakar, Nilgun; Kara, Nazli; Kocak, Hulusi; Ozalp, Sila; Bilge, Ilmay; Sevinc, Emre; Gul, Ahmet; Kamali, Sevil; Sadikoglu, Banu; Selcukbiricik, Fatih; Sirin, Aydan; Sucu, Aysegul; Bek, Kenan; Bulbul, Mehmet; Delibas, Ali; Demircin, Gulay; Erdogan, Ozlem; Oner, Ayse; Mesiha, Ekim; Ozkaya, Nuray; Tekin, Mustafa; Demirkaya, Erkan; Erdem, Hakan; Gok, Faysal; Pay, Salih; Islek, Ismail; Kabasakal, Yasemin; Keser, Gokhan; Ozmen, Mustafa; Akoglu, Emel; Atagunduz, Pamir; Direskeneli, Haner; Temel, Musa; Tuglular, Serhan; Buyan, Necla; Bakkaloglu, Sevcan; Derici, Ulver; Goker, Berna; Kalman, Suleyman; Ozkaya, Ozan; Dusunsel, Ruhan; Gunduz, Zubeyde; Poyrazoglu, M. Hakan; Korkmaz, Cengiz; Baskin, Esra; Koseoglu, Hamide Kart; Saatci, Umit; Yucel, Eftal; Coban, Erkan; Yakupoglu, Gulsen; Oktem, Faruk; Tunc, Ercan; Cobankara, Veli.

In: Medicine, Vol. 84, No. 1, 01.01.2005, p. 1-11.

Research output: Contribution to journalArticle

Tunca, M, Ozdogan, H, Kasapcopur, O, Yalcinkaya, F, Tutar, E, Topaloglu, R, Yilmaz, E, Arici, M, Bakkaloglu, A, Besbas, N, Akpolat, T, Dinc, A, Erken, E, Tirpan, K, Ozer, HTE, Soyturk, M, Senturk, T, Balci, B, Ozguc, M, Dundar, M, Akar, E, Ozel, D, Dundar, M, Gunesacar, R, Booth, DR, Hawkins, PN, Touitou, I, Aksentijevich, I, Matzner, Y, Arslan, S, Balaban, Y, Batman, F, Bayraktar, Y, Apras, S, Calguneri, M, Duzova, A, Kav, T, Ozaltin, F, Simsek, H, Sivri, B, Tatar, G, Akkoc, N, Kavukcu, S, Soylu, A, Turkmen, M, Unsal, E, Arisoy, N, Caliskan, S, Gogus, F, Masatlioglu, S, Sever, L, Akkok, N, Cakar, N, Kara, N, Kocak, H, Ozalp, S, Bilge, I, Sevinc, E, Gul, A, Kamali, S, Sadikoglu, B, Selcukbiricik, F, Sirin, A, Sucu, A, Bek, K, Bulbul, M, Delibas, A, Demircin, G, Erdogan, O, Oner, A, Mesiha, E, Ozkaya, N, Tekin, M, Demirkaya, E, Erdem, H, Gok, F, Pay, S, Islek, I, Kabasakal, Y, Keser, G, Ozmen, M, Akoglu, E, Atagunduz, P, Direskeneli, H, Temel, M, Tuglular, S, Buyan, N, Bakkaloglu, S, Derici, U, Goker, B, Kalman, S, Ozkaya, O, Dusunsel, R, Gunduz, Z, Poyrazoglu, MH, Korkmaz, C, Baskin, E, Koseoglu, HK, Saatci, U, Yucel, E, Coban, E, Yakupoglu, G, Oktem, F, Tunc, E & Cobankara, V 2005, 'Familial Mediterranean Fever (FMF) in Turkey: Results of a nationwide multicenter study', Medicine, vol. 84, no. 1, pp. 1-11. https://doi.org/10.1097/01.md.0000152370.84628.0c
Tunca M, Ozdogan H, Kasapcopur O, Yalcinkaya F, Tutar E, Topaloglu R et al. Familial Mediterranean Fever (FMF) in Turkey: Results of a nationwide multicenter study. Medicine. 2005 Jan 1;84(1):1-11. https://doi.org/10.1097/01.md.0000152370.84628.0c
Tunca, Mehmet ; Ozdogan, Huri ; Kasapcopur, Ozgur ; Yalcinkaya, Fatos ; Tutar, Ercan ; Topaloglu, Rezan ; Yilmaz, Engin ; Arici, Mustafa ; Bakkaloglu, Aysin ; Besbas, Nesrin ; Akpolat, Tekin ; Dinc, Ayhan ; Erken, Eren ; Tirpan, Kazim ; Ozer, Huseyin T.E. ; Soyturk, Mujde ; Senturk, Taskin ; Balci, Banu ; Ozguc, Meral ; Dundar, Munis ; Akar, Ece ; Ozel, Duygu ; Dundar, Munis ; Gunesacar, Ramazan ; Booth, David R. ; Hawkins, Philip N. ; Touitou, Isabelle ; Aksentijevich, Ivona ; Matzner, Yakov ; Arslan, Serap ; Balaban, Yasemin ; Batman, Figen ; Bayraktar, Yusuf ; Apras, Sule ; Calguneri, Meral ; Duzova, Ali ; Kav, Taylan ; Ozaltin, Fatih ; Simsek, Halis ; Sivri, Bulent ; Tatar, Gonca ; Akkoc, Nurullah ; Kavukcu, Salih ; Soylu, Alper ; Turkmen, Mehmet ; Unsal, Erbil ; Arisoy, Nil ; Caliskan, Salim ; Gogus, Feride ; Masatlioglu, Seval ; Sever, Lale ; Akkok, Nermin ; Cakar, Nilgun ; Kara, Nazli ; Kocak, Hulusi ; Ozalp, Sila ; Bilge, Ilmay ; Sevinc, Emre ; Gul, Ahmet ; Kamali, Sevil ; Sadikoglu, Banu ; Selcukbiricik, Fatih ; Sirin, Aydan ; Sucu, Aysegul ; Bek, Kenan ; Bulbul, Mehmet ; Delibas, Ali ; Demircin, Gulay ; Erdogan, Ozlem ; Oner, Ayse ; Mesiha, Ekim ; Ozkaya, Nuray ; Tekin, Mustafa ; Demirkaya, Erkan ; Erdem, Hakan ; Gok, Faysal ; Pay, Salih ; Islek, Ismail ; Kabasakal, Yasemin ; Keser, Gokhan ; Ozmen, Mustafa ; Akoglu, Emel ; Atagunduz, Pamir ; Direskeneli, Haner ; Temel, Musa ; Tuglular, Serhan ; Buyan, Necla ; Bakkaloglu, Sevcan ; Derici, Ulver ; Goker, Berna ; Kalman, Suleyman ; Ozkaya, Ozan ; Dusunsel, Ruhan ; Gunduz, Zubeyde ; Poyrazoglu, M. Hakan ; Korkmaz, Cengiz ; Baskin, Esra ; Koseoglu, Hamide Kart ; Saatci, Umit ; Yucel, Eftal ; Coban, Erkan ; Yakupoglu, Gulsen ; Oktem, Faruk ; Tunc, Ercan ; Cobankara, Veli. / Familial Mediterranean Fever (FMF) in Turkey : Results of a nationwide multicenter study. In: Medicine. 2005 ; Vol. 84, No. 1. pp. 1-11.
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title = "Familial Mediterranean Fever (FMF) in Turkey: Results of a nationwide multicenter study",
abstract = "Familial Mediterranean fever (FMF) is an autosomal recessive disease that is prevalent among eastern Mediterranean populations, mainly non-Ashkenazi Jews, Armenians, Turks, and Arabs. Since a large proportion of all the FMF patients in the world live in Turkey, the Turkish FMF Study Group (FMF-TR) was founded to develop a patient registry database and analyze demographic, clinical, and genetic features. The cohort was composed of 2838 patients (mean age, 23.0 ± 13.33 yr; range, 2-87 yr), with a male:female ratio of 1.2:1. There was a mean period of 6.9 ± 7.65 years from disease onset to diagnosis; the period was about 2 years shorter for each decade since 1981. Ninety-four percent of patients were living in the central-western parts of the country; however, their familial origins (70{\%} from the central-eastern and Black Sea regions) reflected not only the ongoing east to west migration, but also the historical roots of FMF in Turkey. Patients' clinical features included peritonitis (93.7{\%}), fever (92.5{\%}), arthritis (47.4{\%}), pleuritis (31.2{\%}), myalgia (39.6{\%}), and erysipelas-like erythema (20.9{\%}). Arthritis, arthralgia, myalgia, and erysipelas-like erythema were significantly more frequent (p < 0.001) among patients with disease onset before the age of 18 years. Genetic analysis of 1090 patients revealed that M694V was the most frequent mutation (51.4{\%}), followed by M680I (14.4{\%}) and V726A (8.6{\%}). Patients with the M694V/M694V genotype were found to have an earlier age of onset and higher frequencies of arthritis and arthralgia compared with the other groups (both p < 0.001). In contrast to other reported studies, there was no correlation between amyloidosis and M694V homozygosity in this cohort. However, amyloidosis was still remarkably frequent in our patients (12.9{\%}), and it was prevalent (27.8{\%}) even among the 18 patients with a disease onset after age 40 years. Twenty-two patients (0.8{\%}) had nonamyloid glomerular diseases. The high prevalence of vasculitides (0.9{\%} for polyarteritis nodosa and 2.7{\%} for Henoch-Sch{\"o}nlein purpura) and high frequency of pericarditis (1.4{\%}) were striking findings in the cohort. Phenotype II cases (those patients with amyloidosis as the presenting or only manifestation of disease) were rare (0.3{\%} or less). There was a high rate of a past diagnosis of acute rheumatic fever, which suggested a possible misdiagnosis in children with FMF presenting with recurrent arthritis. To our knowledge, this is the largest series of patients with FMF reported from 1 country. We describe the features of the disease in the Turkish population and show that amyloidosis is still a substantial problem.",
author = "Mehmet Tunca and Huri Ozdogan and Ozgur Kasapcopur and Fatos Yalcinkaya and Ercan Tutar and Rezan Topaloglu and Engin Yilmaz and Mustafa Arici and Aysin Bakkaloglu and Nesrin Besbas and Tekin Akpolat and Ayhan Dinc and Eren Erken and Kazim Tirpan and Ozer, {Huseyin T.E.} and Mujde Soyturk and Taskin Senturk and Banu Balci and Meral Ozguc and Munis Dundar and Ece Akar and Duygu Ozel and Munis Dundar and Ramazan Gunesacar and Booth, {David R.} and Hawkins, {Philip N.} and Isabelle Touitou and Ivona Aksentijevich and Yakov Matzner and Serap Arslan and Yasemin Balaban and Figen Batman and Yusuf Bayraktar and Sule Apras and Meral Calguneri and Ali Duzova and Taylan Kav and Fatih Ozaltin and Halis Simsek and Bulent Sivri and Gonca Tatar and Nurullah Akkoc and Salih Kavukcu and Alper Soylu and Mehmet Turkmen and Erbil Unsal and Nil Arisoy and Salim Caliskan and Feride Gogus and Seval Masatlioglu and Lale Sever and Nermin Akkok and Nilgun Cakar and Nazli Kara and Hulusi Kocak and Sila Ozalp and Ilmay Bilge and Emre Sevinc and Ahmet Gul and Sevil Kamali and Banu Sadikoglu and Fatih Selcukbiricik and Aydan Sirin and Aysegul Sucu and Kenan Bek and Mehmet Bulbul and Ali Delibas and Gulay Demircin and Ozlem Erdogan and Ayse Oner and Ekim Mesiha and Nuray Ozkaya and Mustafa Tekin and Erkan Demirkaya and Hakan Erdem and Faysal Gok and Salih Pay and Ismail Islek and Yasemin Kabasakal and Gokhan Keser and Mustafa Ozmen and Emel Akoglu and Pamir Atagunduz and Haner Direskeneli and Musa Temel and Serhan Tuglular and Necla Buyan and Sevcan Bakkaloglu and Ulver Derici and Berna Goker and Suleyman Kalman and Ozan Ozkaya and Ruhan Dusunsel and Zubeyde Gunduz and Poyrazoglu, {M. Hakan} and Cengiz Korkmaz and Esra Baskin and Koseoglu, {Hamide Kart} and Umit Saatci and Eftal Yucel and Erkan Coban and Gulsen Yakupoglu and Faruk Oktem and Ercan Tunc and Veli Cobankara",
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month = "1",
day = "1",
doi = "10.1097/01.md.0000152370.84628.0c",
language = "English (US)",
volume = "84",
pages = "1--11",
journal = "Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries",
issn = "0025-7974",
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TY - JOUR

T1 - Familial Mediterranean Fever (FMF) in Turkey

T2 - Results of a nationwide multicenter study

AU - Tunca, Mehmet

AU - Ozdogan, Huri

AU - Kasapcopur, Ozgur

AU - Yalcinkaya, Fatos

AU - Tutar, Ercan

AU - Topaloglu, Rezan

AU - Yilmaz, Engin

AU - Arici, Mustafa

AU - Bakkaloglu, Aysin

AU - Besbas, Nesrin

AU - Akpolat, Tekin

AU - Dinc, Ayhan

AU - Erken, Eren

AU - Tirpan, Kazim

AU - Ozer, Huseyin T.E.

AU - Soyturk, Mujde

AU - Senturk, Taskin

AU - Balci, Banu

AU - Ozguc, Meral

AU - Dundar, Munis

AU - Akar, Ece

AU - Ozel, Duygu

AU - Dundar, Munis

AU - Gunesacar, Ramazan

AU - Booth, David R.

AU - Hawkins, Philip N.

AU - Touitou, Isabelle

AU - Aksentijevich, Ivona

AU - Matzner, Yakov

AU - Arslan, Serap

AU - Balaban, Yasemin

AU - Batman, Figen

AU - Bayraktar, Yusuf

AU - Apras, Sule

AU - Calguneri, Meral

AU - Duzova, Ali

AU - Kav, Taylan

AU - Ozaltin, Fatih

AU - Simsek, Halis

AU - Sivri, Bulent

AU - Tatar, Gonca

AU - Akkoc, Nurullah

AU - Kavukcu, Salih

AU - Soylu, Alper

AU - Turkmen, Mehmet

AU - Unsal, Erbil

AU - Arisoy, Nil

AU - Caliskan, Salim

AU - Gogus, Feride

AU - Masatlioglu, Seval

AU - Sever, Lale

AU - Akkok, Nermin

AU - Cakar, Nilgun

AU - Kara, Nazli

AU - Kocak, Hulusi

AU - Ozalp, Sila

AU - Bilge, Ilmay

AU - Sevinc, Emre

AU - Gul, Ahmet

AU - Kamali, Sevil

AU - Sadikoglu, Banu

AU - Selcukbiricik, Fatih

AU - Sirin, Aydan

AU - Sucu, Aysegul

AU - Bek, Kenan

AU - Bulbul, Mehmet

AU - Delibas, Ali

AU - Demircin, Gulay

AU - Erdogan, Ozlem

AU - Oner, Ayse

AU - Mesiha, Ekim

AU - Ozkaya, Nuray

AU - Tekin, Mustafa

AU - Demirkaya, Erkan

AU - Erdem, Hakan

AU - Gok, Faysal

AU - Pay, Salih

AU - Islek, Ismail

AU - Kabasakal, Yasemin

AU - Keser, Gokhan

AU - Ozmen, Mustafa

AU - Akoglu, Emel

AU - Atagunduz, Pamir

AU - Direskeneli, Haner

AU - Temel, Musa

AU - Tuglular, Serhan

AU - Buyan, Necla

AU - Bakkaloglu, Sevcan

AU - Derici, Ulver

AU - Goker, Berna

AU - Kalman, Suleyman

AU - Ozkaya, Ozan

AU - Dusunsel, Ruhan

AU - Gunduz, Zubeyde

AU - Poyrazoglu, M. Hakan

AU - Korkmaz, Cengiz

AU - Baskin, Esra

AU - Koseoglu, Hamide Kart

AU - Saatci, Umit

AU - Yucel, Eftal

AU - Coban, Erkan

AU - Yakupoglu, Gulsen

AU - Oktem, Faruk

AU - Tunc, Ercan

AU - Cobankara, Veli

PY - 2005/1/1

Y1 - 2005/1/1

N2 - Familial Mediterranean fever (FMF) is an autosomal recessive disease that is prevalent among eastern Mediterranean populations, mainly non-Ashkenazi Jews, Armenians, Turks, and Arabs. Since a large proportion of all the FMF patients in the world live in Turkey, the Turkish FMF Study Group (FMF-TR) was founded to develop a patient registry database and analyze demographic, clinical, and genetic features. The cohort was composed of 2838 patients (mean age, 23.0 ± 13.33 yr; range, 2-87 yr), with a male:female ratio of 1.2:1. There was a mean period of 6.9 ± 7.65 years from disease onset to diagnosis; the period was about 2 years shorter for each decade since 1981. Ninety-four percent of patients were living in the central-western parts of the country; however, their familial origins (70% from the central-eastern and Black Sea regions) reflected not only the ongoing east to west migration, but also the historical roots of FMF in Turkey. Patients' clinical features included peritonitis (93.7%), fever (92.5%), arthritis (47.4%), pleuritis (31.2%), myalgia (39.6%), and erysipelas-like erythema (20.9%). Arthritis, arthralgia, myalgia, and erysipelas-like erythema were significantly more frequent (p < 0.001) among patients with disease onset before the age of 18 years. Genetic analysis of 1090 patients revealed that M694V was the most frequent mutation (51.4%), followed by M680I (14.4%) and V726A (8.6%). Patients with the M694V/M694V genotype were found to have an earlier age of onset and higher frequencies of arthritis and arthralgia compared with the other groups (both p < 0.001). In contrast to other reported studies, there was no correlation between amyloidosis and M694V homozygosity in this cohort. However, amyloidosis was still remarkably frequent in our patients (12.9%), and it was prevalent (27.8%) even among the 18 patients with a disease onset after age 40 years. Twenty-two patients (0.8%) had nonamyloid glomerular diseases. The high prevalence of vasculitides (0.9% for polyarteritis nodosa and 2.7% for Henoch-Schönlein purpura) and high frequency of pericarditis (1.4%) were striking findings in the cohort. Phenotype II cases (those patients with amyloidosis as the presenting or only manifestation of disease) were rare (0.3% or less). There was a high rate of a past diagnosis of acute rheumatic fever, which suggested a possible misdiagnosis in children with FMF presenting with recurrent arthritis. To our knowledge, this is the largest series of patients with FMF reported from 1 country. We describe the features of the disease in the Turkish population and show that amyloidosis is still a substantial problem.

AB - Familial Mediterranean fever (FMF) is an autosomal recessive disease that is prevalent among eastern Mediterranean populations, mainly non-Ashkenazi Jews, Armenians, Turks, and Arabs. Since a large proportion of all the FMF patients in the world live in Turkey, the Turkish FMF Study Group (FMF-TR) was founded to develop a patient registry database and analyze demographic, clinical, and genetic features. The cohort was composed of 2838 patients (mean age, 23.0 ± 13.33 yr; range, 2-87 yr), with a male:female ratio of 1.2:1. There was a mean period of 6.9 ± 7.65 years from disease onset to diagnosis; the period was about 2 years shorter for each decade since 1981. Ninety-four percent of patients were living in the central-western parts of the country; however, their familial origins (70% from the central-eastern and Black Sea regions) reflected not only the ongoing east to west migration, but also the historical roots of FMF in Turkey. Patients' clinical features included peritonitis (93.7%), fever (92.5%), arthritis (47.4%), pleuritis (31.2%), myalgia (39.6%), and erysipelas-like erythema (20.9%). Arthritis, arthralgia, myalgia, and erysipelas-like erythema were significantly more frequent (p < 0.001) among patients with disease onset before the age of 18 years. Genetic analysis of 1090 patients revealed that M694V was the most frequent mutation (51.4%), followed by M680I (14.4%) and V726A (8.6%). Patients with the M694V/M694V genotype were found to have an earlier age of onset and higher frequencies of arthritis and arthralgia compared with the other groups (both p < 0.001). In contrast to other reported studies, there was no correlation between amyloidosis and M694V homozygosity in this cohort. However, amyloidosis was still remarkably frequent in our patients (12.9%), and it was prevalent (27.8%) even among the 18 patients with a disease onset after age 40 years. Twenty-two patients (0.8%) had nonamyloid glomerular diseases. The high prevalence of vasculitides (0.9% for polyarteritis nodosa and 2.7% for Henoch-Schönlein purpura) and high frequency of pericarditis (1.4%) were striking findings in the cohort. Phenotype II cases (those patients with amyloidosis as the presenting or only manifestation of disease) were rare (0.3% or less). There was a high rate of a past diagnosis of acute rheumatic fever, which suggested a possible misdiagnosis in children with FMF presenting with recurrent arthritis. To our knowledge, this is the largest series of patients with FMF reported from 1 country. We describe the features of the disease in the Turkish population and show that amyloidosis is still a substantial problem.

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JF - Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries

SN - 0025-7974

IS - 1

ER -