Amyloidosis and its related factors in Turkish patients with familial Mediterranean fever: a multicentre study

Kaşifoğlu, Timuçin; Bilge, Şuheyb; Sarı, İ̇smail; Solmaz, Dilek; Şenel, Soner; Emmüngil, Hakan; Kılıç, Levent; Öner, Setenay; Yıldız, Fatih; Yılmaz, Sedat; Bakirli, Duygu; Tufan, Müge Aydın; Yılmaz, Sema; Yazısız, Veli; Pehlıvan, Yavuz; Beş, Cemal; Çetin, Gözde Yıldırım; Erten, Şükran; Gönüllü, Emel; Temel, Tuncer; Şahin, Fezan; Akar, Servet; Aksu, Kenan; Kalyoncu, Umut; Direşkeneli, Haner; Erken, Eren; Kısacık, Bünyamin; Sayarlıoğlu, Mehmet; Korkmaz, Cengiz

doi:10.1093/rheumatology/ket400

Cited by 104 publications

(81 citation statements)

References 18 publications

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“…The MEFV gene responsible for FMF was discovered in 1997 [2]. Subsequently, several studies suggested that phenotypic presentations of FMF could be associated with certain mutations in the MEFV gene [3][4][5][6][7][8][9][10][11], e.g., the presence of M694V allele significantly increased the risk of AA amyloidosis, probably due to more severe inflammation [3][4][5][6]. Other reports suggest that AA amyloidosis in FMF patients can be linked to another gene encoding an acute-phase serum amyloid A (SAA) protein [8].…”

Section: Introductionmentioning

confidence: 99%

Predictors of AA amyloidosis in familial Mediterranean fever

et al. 2015

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The aim of the study was to evaluate the clinical and genetic predictors of AA amyloidosis in patients with familial Mediterranean fever (FMF). We retrospectively studied 170 Armenian patients who were admitted to the two tertiary centers in 2003-2014. The diagnosis of amyloidosis that was suspected clinically (new proteinuria or nephrotic syndrome) was confirmed histologically. Screening for MEFV gene mutations was performed in 70 patients. The most common genotype was M694V/M694V (in 36 % of patients). Biopsy-proven AA amyloidosis was found in 102 (60 %) of 170 patients. AA amyloidosis was diagnosed in 17 (68 %) of 25 patients with homozygous M694V mutation, 17 (53 %) of 32 patients with heterozygous M694V allele and 4 (31 %) of 13 patients with other MEFV gene mutations. The M694V homozygosity and heterozygosity were associated with increased risk of AA amyloidosis, but this association did not reach statistical significance (odds ratio 2.43; 95 % CI 0.87-6.76, and 3.33; 0.91-12.1, respectively). Male gender, early onset of disease, severity of FMF, frequent attacks, peritonitis, pleuritis and erysipelas-like erythema also did not predict AA amyloidosis development. Recurrent arthritis was the only clinical finding that was significantly associated with AA amyloidosis (odds ratio 2.28; 95 % CI 1.17-4.42). Involvement of the joint synovial membrane, that is capable of active serum amyloid A production, is the main predictor of renal amyloidosis in FMF.

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Section: Introductionmentioning

confidence: 99%

Predictors of AA amyloidosis in familial Mediterranean fever

et al. 2015

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“…However, only the frequencies of the M694V, M680I and V726A variations (which have higher percentages of providing clinical signs and are more penetrating) were encountered. 48 One of these variations was found in six persons in the patient group (8.5%), and in two persons in the control group (4%) (P = 0.468).…”

Section: Discussionmentioning

confidence: 91%

A variant allele of the Mediterranean‐fever gene increases the severity of gout

et al. 2016

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Background: Gout is a clinical syndrome that occurs as an inflammatory response to increased concentration of uric acid and monosodium urate crystals. Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance. The Mediterranean fever (MEFV) gene is responsible for FMF and encodes pyrin that suppresses the inflammatory response. Most of the FMF-related mutations have been identified in exon 2 (e.g., E148Q and R202Q) and exon 10 (M680I, M694V, M694I and V726A) of the MEFV gene, and each missense mutation is known to increase production of interleukin-1, a proinflammatory cytokine. Our aim was to investigate effects of MEFV variant alleles on the manifestations of gout.

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“…In considering these reports, we suggest that E148Q positivity does not have the specific features of the homozygous M694V mutation, such as an established clinical outcome and increased risk of AA amyloidosis. 16 Instead, E148Q positivity has heterogeneous clinical features and relatively subclinical progression in childhood and early adulthood, leading to late diagnosis after renal replacement therapy.…”

Section: Discussionmentioning

confidence: 99%

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Uslu²,

Şimşek³

et al. 2017

Exp Clin Transplant

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Fever of unknown origin is a rare condition after solidorgan transplant and is generally associated with atypical infections (eg, tuberculosis, fungal infections) and/or lymphoproliferative disorders. Here, we present a kidney transplant patient with a late diagnosis of E148Q mutation-positive familial Mediterranean fever as the cause of fever of unknown origin. A 22-year-old female patient with a previous history of 4 years of hemodialysis and unknown primary renal disease received a deceased-donor kidney transplant at our center 5 years previously. She had an uneventful course in the first 3 years following transplant. After this period, she was hospitalized 3 times during a 4-month period with fever, nausea, vomiting, and atypical abdominal pain. At that time, hemogram results were unremarkable, except for mild leukocytosis and slightly elevated acute-phase reactants; blood, urine, and throat cultures were negative, and there were no remarkable findings on imaging tests. Fever was controlled within 48 hours by administering empiric ampicillin-sulbactam therapy and discon tinuing immunosuppressive treatment except steroids. Three successive hospital admissions owing to similar complaints suggested periodic fever syndrome, and therapy with 1 g/day colchicine led to an excellent clinical response with no recurrence of fever or other symptoms. An FMF gene mutation analysis revealed heterozygous E148Q mutation positivity. Continuing the current treatment regimen, the patient did well during at approximately 1.5 years of follow-up. In the Mediterranean region population, familial Mediterranean fever should be considered in the diagnosis of fever of unknown origin in patients who have undergone renal transplant. E148Q mutation-positive familial Mediterranean fever has a subclinical course and renal manifestations that differ from AA amyloidosis during childhood and may be responsible for de novo familial Mediterranean fever after renal transplantation.

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Amyloidosis and its related factors in Turkish patients with familial Mediterranean fever: a multicentre study

Abstract: 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.

Cited by 104 publications

References 18 publications

Predictors of AA amyloidosis in familial Mediterranean fever

Predictors of AA amyloidosis in familial Mediterranean fever

A variant allele of the Mediterranean‐fever gene increases the severity of gout

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