The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia

Bilge, Nazife Şule Yaşar; Sarı, İ̇smail; Solmaz, Dilek; Şenel, Abdurrahman Soner; Emmüngil, Hakan; Kılıç, Levent; Öner, Setenay; Yıldız, Fatih; Yılmaz, Sedat; Ersözlü, Duygu; Tufan, Müge Aydın; Yılmaz, Sema; Yazısız, Veli; Pehlıvan, Yavuz; Beş, Cemal; Çetin, Gözde Yıldırım; Erten, Şükran; Gönüllü, Emel; Mutlu, Fezan; Akar, Servet; Aksu, Kenan; Kalyoncu, Umut; Direskeneli, Haner; Erken, Eren; Kısacık, Bünyamin; Sayarlıoğlu, Mehmet; Çınar, Muhammet; Kaşifoğlu, Timuçin

doi:10.3906/sag-1809-100

Cited by 28 publications

(14 citation statements)

References 27 publications

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“…In our study, it was observed that there was a decrease in the frequency and number of attacks in almost all patients treated with canakinumab, consistent with previous efficacy studies. In addition to the frequency of attacks, a significant decrease was also shown in acute-phase reactants with IL-1 antagonists, similar to our results [ 8 , 20 , 23 , 30 ].…”

Section: Discussionsupporting

confidence: 92%

“…Four of the five most common mutations occur in exon 10 (M694V, V726A, M694I, M680I), and one in exon 2 (E148Q). According to the genotype, homozygous M694V (24%) was the most common mutation, followed by heterozygous M694V in Turkish MFF patients [ 8 ]. Mutations disrupt pyrin regulation, resulting in caspase-1 activation, which mediates the release of interleukin-1ß (IL-1β) from its inactive precursor.…”

Section: Introductionmentioning

confidence: 99%

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Real-life data on tapering or discontinuation of canakinumab therapy in patients with familial Mediterranean fever

Karabulut¹,

Gezer

Öz

et al. 2022

Rheumatol Int

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This study aimed to investigate the disease characteristics of familial Mediterranean fever (FMF) patients undergoing dose optimisation and discontinuation of canakinumab therapy. A total of 61 patients diagnosed with FMF and using canakinumab for the resistant disease were enrolled on this retrospective study. Patients’ characteristics, disease activity, treatment response, dose optimisation, dose intervals, attack-free periods, drug-free periods and side effects were noted. Dose intervals were extended in patients who achieved remission without being bound by any protocol at the discretion of the rheumatology physician who followed up with the patients in the outpatient clinic. The drug was discontinued in some patients whose dose intervals were 2 months or longer and remained in remission for 6 months or longer. A total of 57 patients (56% female, median age 32.4 years) were included. The mean attack frequency before canakinumab was 3.4/6 months, while it was 1.2 at the last post-treatment visit ( p < 0.001). The median duration of canakinumab use was 46 months. After the first 6 months, the dosing interval was extended in 22 patients, and then treatment was discontinued in 12 of them who did not have an attack in the last 6 months. Three of the 12 patients whose treatment was discontinued started monthly treatment again after their attacks recurred. In the remaining ten patients, dose intervals were extended to 8–12 weeks after 6 months of monthly treatment. Nine patients are still being followed up without attacks and receive only colchicine therapy. Canakinumab is a safe and effective treatment, dose intervals may be extended, and follow-up without medication may be possible for eligible patients. However, there is a need for a consensus on dose optimisation or tapering.

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Section: Discussionsupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Real-life data on tapering or discontinuation of canakinumab therapy in patients with familial Mediterranean fever

Karabulut¹,

Gezer

Öz

et al. 2022

Rheumatol Int

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“…Second, we had no data regarding the MEFV gene mutation status of the patients. However, it is thought that the MEFV gene mutations of the patients in this study are not different from MEFV mutations which have been shown in the literature to be mostly associated with renal amyloidosis in Turkish FMF patients 17 …”

Section: Discussionmentioning

confidence: 47%

Long‐term results of kidney transplantation in patients with familial mediterranean fever

Bıtık

Hatipoğlu

Sayın

et al. 2023

Clinical Transplantation

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Introduction Long‐term kidney transplantation (KT) results in patients with familial Mediterranean fever (FMF)‐related amyloidosis are not well studied. This study reviewed the long‐term survival outcomes of FMF patients who underwent KT. Methods We compared the outcomes of 31 patients who underwent (KT) for biopsy‐proven amyloidosis secondary to FMF with 31 control patients (five with diabetes mellitus and 26 with nondiabetic kidney disease) undergoing KT between 1994 and 2021 at Başkent University Hospital. All data were recorded retrospectively from patients’ files. Results: The median age (quartile deviation QD) at the time of KT in the FMF and control group were 31 (6.7) and 33 (11), respectively. The median follow‐up period (QD) after KT was 108 (57) months in the FMF and 132 (72) months in the control group. In the FMF group, graft and patient survivals were 71% and 84% at 5 years and 45% and 48% at 10 years, respectively. In the control group, graft and patient survivals were 79% and 100% at 5 years and 63% and 71% at 10 years, respectively. Patient survival in the FMF group at 5 years was significantly lower than in the control group (p = .045). There was no statistically significant difference between the FMF and control groups in terms of graft and patient survival, and serum creatinine levels at 10 years. All patients were given triple immunosuppressive treatment with cyclosporine, mycophenolate mofetil, and prednisolone. Three patients received anakinra and one received canakinumab in addition to colchicine treatment. One FMF patient also underwent heart transplantation due to AA amyloidosis. Of the FMF patients, 11 died during follow‐up. Conclusion We have found that the long‐term outcome of KT in patients with FMF amyloidosis is numerically worse but not statistically different from the control group. However, short‐ and long‐term complications still need to be resolved.

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“…Patients with the E148Q variant, which is a common variant in FMF patients in Turkey, were also included in this study. 7 …”

Section: Methodsmentioning

confidence: 99%

Evaluating of colchicine use patterns and attack frequency of familial Mediterranean fever patients in the COVID‐19 pandemic

et al. 2022

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The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia

Cited by 28 publications

References 27 publications

Real-life data on tapering or discontinuation of canakinumab therapy in patients with familial Mediterranean fever

Real-life data on tapering or discontinuation of canakinumab therapy in patients with familial Mediterranean fever

Long‐term results of kidney transplantation in patients with familial mediterranean fever

Evaluating of colchicine use patterns and attack frequency of familial Mediterranean fever patients in the COVID‐19 pandemic

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