title: Amyloidosis and its related factors in Turkish patients with familial Mediterranean fever: a multicentre study.
abstract: OBJECTIVE
  The primary aim of this study was to investigate the prevalence of amyloidosis and its related factors in a large number of FMF patients.
  
  
  METHODS
  Fifteen centres from the different geographical regions of Turkey were included in the study. Detailed demographic and medical data based on a structured questionnaire and medical records were collected. The diagnosis of amyloidosis was based on histological proof of congophilic fibrillar deposits in tissue biopsy specimens.
  
  
  RESULTS
  There were 2246 FMF patients. The male/female ratio was 0.87 (1049/1197). The mean age of the patients was 34.5 years (S.D. 11.9). Peritonitis was the most frequent clinical finding and it was present in 94.6% of patients. Genetic testing was available in 1719 patients (76.5%). The most frequently observed genotype was homozygous M694V mutation, which was present in 413 (24%) patients. Amyloidosis was present in 193 patients (8.6%). Male sex, arthritis, delay in diagnosis, M694V genotype, patients with end-stage renal disease (ESRD) and family history of amyloidosis and ESRD were significantly more prevalent in patients with amyloidosis compared with the amyloidosis-negative subjects. Patients with homozygous M694V mutations had a 6-fold higher risk of amyloidosis compared with the other genotypes (95% CI 4.29, 8.7, P < 0.001).
  
  
  CONCLUSIONS
  In this nationwide study we found that 8.6% of our FMF patients had amyloidosis and homozygosity for M694V was the most common mutation in these patients. The latter finding confirms the association of homozygous M694V mutation with amyloidosis in Turkish FMF patients.
authors.affiliation: Osmangazi Universitesi, Tıp Fakultesi, Ic Hastaliklari ABD, Romatoloji BD, Meşelik Yerleşkesi, PK 26480 Eskisehir, Turkey. timucinkasifoglu@yahoo.com.
authors.forename: Timucin
authors.initials: T
authors.lastname: Kasifoglu
authors.forename: Sule Yasar
authors.initials: SY
authors.lastname: Bilge
authors.forename: Ismail
authors.initials: I
authors.lastname: Sari
authors.forename: Dilek
authors.initials: D
authors.lastname: Solmaz
authors.forename: Soner
authors.initials: S
authors.lastname: Senel
authors.forename: Hakan
authors.initials: H
authors.lastname: Emmungil
authors.forename: Levent
authors.initials: L
authors.lastname: Kilic
authors.forename: Sibel Yilmaz
authors.initials: SY
authors.lastname: Oner
authors.forename: Fatih
authors.initials: F
authors.lastname: Yildiz
authors.forename: Sedat
authors.initials: S
authors.lastname: Yilmaz
authors.forename: Duygu Ersozlu
authors.initials: DE
authors.lastname: Bakirli
authors.forename: Muge Aydin
authors.initials: MA
authors.lastname: Tufan
authors.forename: Sema
authors.initials: S
authors.lastname: Yilmaz
authors.forename: Veli
authors.initials: V
authors.lastname: Yazisiz
authors.forename: Yavuz
authors.initials: Y
authors.lastname: Pehlivan
authors.forename: Cemal
authors.initials: C
authors.lastname: Bes
authors.forename: Gozde Yildirim
authors.initials: GY
authors.lastname: Cetin
authors.forename: Sukran
authors.initials: S
authors.lastname: Erten
authors.forename: Emel
authors.initials: E
authors.lastname: Gonullu
authors.forename: Tuncer
authors.initials: T
authors.lastname: Temel
authors.forename: Fezan
authors.initials: F
authors.lastname: Sahin
authors.forename: Servet
authors.initials: S
authors.lastname: Akar
authors.forename: Kenan
authors.initials: K
authors.lastname: Aksu
authors.forename: Umut
authors.initials: U
authors.lastname: Kalyoncu
authors.forename: Haner
authors.initials: H
authors.lastname: Direskeneli
authors.forename: Eren
authors.initials: E
authors.lastname: Erken
authors.forename: Bunyamin
authors.initials: B
authors.lastname: Kisacik
authors.forename: Mehmet
authors.initials: M
authors.lastname: Sayarlioglu
authors.forename: Cengiz
authors.initials: C
authors.lastname: Korkmaz
mesh_terms: D000328:Adult; D000686:Amyloidosis / Q000209:etiology* / Q000235:genetics; D001168:Arthritis / Q000209:etiology; D003598:Cytoskeletal Proteins / Q000235:genetics; D057210:Delayed Diagnosis; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000235:genetics; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology; D008297:Male; D008875:Middle Aged; D000071198:Pyrin; D012189:Retrospective Studies; D012307:Risk Factors; D012737:Sex Factors; D014421:Turkey; D055815:Young Adult
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin
keywords: amyloidosis; familial Mediterranean fever; prevalence