Session Information
Session Type: Abstract Submissions (ACR)
Background/Purpose:
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease that occurs worldwide and predominantly affects the populations arising from the Mediterranean origin. Secondary (AA) amyloidosis still remains the most devastating complication of FMF especially in untreated and noncompliant patients. However, pathogenesis and risk factors of amyloidosis still remains only partially understood in FMF. 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 centers from the different geographical regions of Turkey were included in the study. Detailed demographic and medical data based on structured questionnaire and medical records were collected. The diagnosis of amyloidosis was based on histological proof of congophilic fibrillar deposits in tissue biopsies.
Results:
There were 2246 FMF patients. The male/female ratio was 0.87 (1049/1197). The mean ages of the patients were 33.6±0.25 years. Peritonitis was the most frequent clinical finding of the patients and it was present in 94.6% of the patients. The other clinical features were fever (91.9%), pleuritis (47.9%), arthritis (39.8%), erysipelas like erythema (ELE; 23.7%), myalgia (13%) and vasculitis (2.7%). 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 (8.6%) patients. Male sex, arthritis, M694V genotype, patients with end stage renal disease (ESRD), family history of amyloidosis and ESRD was significantly more prevalent in patients with amyloidosis compared with the amyloidosis negative subjects (Table 1). Patients with homozygous M694V mutations had significantly increased frequency of arthritis, ELE, amyloidosis, ESRD and family history of FMF and ESRD compared to the other genotypes.
Conclusion:
In this nationwide study we revealed 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.
Table 1:Comparison of patients with or without amyloidosis
|
|
Amyloidosis (+) n=193 |
Amyloidosis (-) n=2053 |
P |
|
Male sex |
105, (54.4) |
944, (46) |
0.026 |
|
Peritonitis |
170, (88.1) |
1956, (95.3) |
<0.001 |
|
Pleuritis |
73, (37.8) |
1002, (48.8) |
<0.001 |
|
Arthritis |
99, (51.3) |
796, (38.8) |
0.001 |
|
Patients with ESRD |
101, (52.3) |
10, (0.5) |
<0.001 |
|
M694V homozygosity |
90, (45.6) |
323, (15.7) |
<0.001 |
|
Delay in the diagnosis (years) |
8 |
7 |
0.147 |
|
Family history of amyloidosis |
54, (28) |
428, (20.8) |
0.027 |
|
Family history of ESRD |
32, (16.6) |
81, (3.9) |
<0.001 |
Disclosure:
T. Kasifoglu,
None;
S. Yasar,
None;
I. Sari,
None;
D. Solmaz,
None;
S. Senel,
None;
H. Emmungil,
None;
L. Kilic,
None;
S. Yilmaz Oner,
None;
F. Yildiz,
None;
S. Yilmaz,
None;
M. Cinar,
None;
D. Ersozlu Bakirli,
None;
M. Aydin Tufan,
None;
S. Yilmaz,
None;
V. Yazisiz,
None;
Y. Pehlivan,
None;
C. Bes,
None;
G. Yildirim Cetin,
None;
S. Erten,
None;
E. Gonullu,
None;
T. Temel,
None;
S. Akar,
None;
K. Aksu,
None;
U. Kalyoncu,
None;
H. Direskeneli,
None;
E. Erken,
None;
B. Kisacik,
None;
M. Sayarlioglu,
None;
C. Korkmaz,
None.
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ACR Meeting Abstracts - https://acrabstracts.org/abstract/amyloidosis-and-its-related-factors-in-patients-with-familial-mediterranean-fever-a-nationwide-multicenter-study/