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1. Methodology of a new inflammatory arthritis registry: TReasure

Author

Tufan, Muge Aydin, Kalyoncu, Umut, Tascilar, Etem Koray, Ertenli, Ali Ihsan, Dalkilic, Huseyin Ediz, Bes, Cemal, Kucuksahin, Orhan, Kasifoglu, Timucin, Alpay Kanitez, Nilufer, Emmungil, Hakan, Kimyon, Gezmis, Yasar Bilge, Nafize Sule, Akar, Servet, Atagunduz, Mehmet Pamir, Koca, Suleyman Serdar, Ates, Askin, Yazisiz, Veli, Terzioglu, Ender, Ersozlu, Emine Duygu, Cinar, Muhammet, Mercan, Ridvan, Sahin, Ali, Erten, Sukran, Pehlivan, Yavuz, Yilmaz, Sedat, Kelesoglu Dincer, Ayse Bahar, Gercik, Onay, Coskun, Belkis Nihan, Yagiz, Burcu, Kaymaz Tahra, Sema, Aksoy, Aysun, Karadag, Omer, Kilic, Levent, Kiraz, Sedat, [Kalyoncu, Umut -- Ertenli, Ali Ihsan -- Karadag, Omer -- Kilic, Levent -- Kiraz, Sedat] Hacettepe Univ, Fac Med, Dept Internal Med, Div Rheumatol, Ankara, Turkey -- [Tascilar, Etem Koray] Okmeydani Training & Res Hosp, Rheumatol Clin, Istanbul, Turkey -- [Dalkilic, Huseyin Ediz -- Pehlivan, Yavuz -- Coskun, Belkis Nihan -- Yagiz, Burcu] Uludag Univ, Fac Med, Dept Internal Med, Div Rheumatol, Bursa, Turkey -- [Bes, Cemal -- Alpay Kanitez, Nilufer] Rheumatol Clin, Bakirkoy Dr Sadi Konuk Training & Res Hosp, Istanbul, Turkey -- [Kucuksahin, Orhan] Istinye Univ, Fac Med, Dept Internal Med, Div Rheumatol, Istanbul, Turkey -- [Kasifoglu, Timucin -- Yasar Bilge, Nazife Sule] Eskisehir Osmangazi Univ, Fac Med, Dept Internal Med, Div Rheumatol, Eskisehir, Turkey -- [Emmungil, Hakan] Trakya Univ, Fac Med, Dept Internal Med, Div Rheumatol, Edirne, Turkey -- [Kimyon, Gezmis] Mustafa Kemal Univ, Fac Med, Dept Internal Med, Div Rheumatol, Antakya, Turkey -- [Akar, Servet -- Gercik, Onay] Izmir Katip Celebi Univ, Fac Med, Dept Internal Med, Div Rheumatol, Izmir, Turkey -- [Atagunduz, Mehmet Pamir -- Kaymaz Tahra, Sema -- Aksoy, Aysun] Marmara Univ, Fac Med, Dept Internal Med, Div Rheumatol, Istanbul, Turkey -- [Koca, Suleyman Serdar] Firat Univ, Fac Med, Dept Internal Med, Div Rheumatol, Elazig, Turkey -- [Ates, Askin] Ankara Univ, Fac Med, Dept Internal Med, Div Rheumatol, Ankara, Turkey -- [Yazisiz, Veli -- Terzioglu, Ender] Akdeniz Univ, Fac Med, Dept Internal Med, Div Rheumatol, Antalya, Turkey -- [Ersozlu, Emine Duygu] Adana Numune Training & Res Hosp, Unit Rheumatol, Adana, Turkey -- [Tufan, Muge Aydin] Baskent Univ, Unit Rheumatol, Adana Hosp, Adana, Turkey -- [Cinar, Muhammet -- Yilmaz, Sedat] Univ Hlth Sci, Gulhane Fac Med, Dept Internal Med, Div Rheumatol, Ankara, Turkey -- [Mercan, Ridvan] Namik Kemal Univ, Fac Med, Dept Internal Med, Div Rheumatol, Tekirdag, Turkey -- [Sahin, Ali] Cumhuriyet Univ, Fac Med, Dept Internal Med, Div Rheumatol, Sivas, Turkey -- [Erten, SUkran] Yildirim Beyazit Univ, Fac Med, Dept Internal Med, Div Rheumatol, Ankara, Turkey, TASCILAR, Koray -- 0000-0002-8109-826X, Kaymaz-Tahra, Sema -- 0000-0001-5706-4943, Kalyoncu, Umut, Tascilar, Etem Koray, Ertenli, Ali Ihsan, Dalkilic, Huseyin Ediz, Bes, Cemal, Kucuksahin, Orhan, Kasifoglu, Timucin, Alpay Kanitez, Nilufer, Emmungil, Hakan, Kimyon, Gezmis, Yasar Bilge, Nazife Sule, Akar, Servet, Atagunduz, Mehmet Pamir, Koca, Suleyman Serdar, Ates, Askin, Yazisiz, Veli, Terzioglu, Ender, Ersozlu, Emine Duygu, Tufan, Muge Aydin, Cinar, Muhammet, Mercan, Ridvan, Sahin, Ali, Erten, SUkran, Pehlivan, Yavuz, Yilmaz, Sedat, Kelesoglu Dincer, Ayse Bahar, Gercik, Onay, Coskun, Belkis Nihan, Yagiz, Burcu, Kaymaz Tahra, Sema, Aksoy, Aysun, Karadag, Omer, Kilic, Levent, Kiraz, Sedat, İç Hastalıkları, İstinye Üniversitesi, Hastane, and Ege Üniversitesi

Subjects
Male, 0301 basic medicine, Turkey, Cross-sectional study, Inflammatory arthritis, NECROSIS FACTOR THERAPY, Datasets as Topic, Biologics Register, CLINICAL HISTORY, registry, DISEASE-ACTIVITY, Arthritis, Rheumatoid, Unique identifier, 0302 clinical medicine, Disease-Activity, Psoriatic-Arthritis, Health care, disease-modifying antirheumatic drugs, Necrosis Factor Therapy, Prospective Studies, Registries, Cerrahi, Rheumatoid-Arthritis, Clinical History, ANKYLOSING-SPONDYLITIS, General Medicine, Middle Aged, spondyloarthritis, BACK-PAIN, Antirheumatic Agents, Cohort, Society Classification Criteria, Female, Back-Pain, Treasure, medicine.medical_specialty, TReasure, Drug Industry, DIAGNOSTIC-CRITERIA, Ankylosing-Spondylitis, 03 medical and health sciences, Spondylarthritis, medicine, Humans, Rheumatoid arthritis, Diagnostic-Criteria, Aged, Retrospective Studies, business.industry, Retrospective cohort study, medicine.disease, RHEUMATOID-ARTHRITIS, Cross-Sectional Studies, 030104 developmental biology, Rheumatoid arthritis,spondyloarthritis,disease-modifying antirheumatic drugs,registry,TReasure, Family medicine, PSORIATIC-ARTHRITIS, BIOLOGICS REGISTER, 030221 ophthalmology & optometry, SOCIETY CLASSIFICATION CRITERIA, Observational study, Health Facilities, Societies, business
Abstract

WOS: 000441766000023, PubMed ID: 30119164, Background/aim: The TReasure registry, created in 2017, is an observational multicenter cohort that includes inflammatory arthritis patients. This article reviews the methodology and objectives of the TReasure registry established to collect data from rheumatoid arthritis (RA) and spondyloarthritis (SpA) patients. Methodology: Fifteen rheumatology centers in Turkey will contribute data to the TReasure database. The actual proprietor of the database is the Hacettepe Rheumatology Association (HRD) and Hacettepe Financial Enterprises. Pharmaceutical companies that operate in Turkey (in alphabetical or er), Abbvie, Amgen, BMS, Celltrion Healthcare, Novartis, Pfizer, Roche, and UCB, support the TReasure registry. TReasure is a web-based database to which users connect through a URL (https://www.trials-network.org/treasure) with their unique identifier and passwords provided for data entry and access. TReasure records demographic and clinical features, comorbidities, radiology and laboratory results, measures of disease activity, and treatment data. Discussion: TReasure will provide us with various types of data, such as a cross-sectional view of the current nationwide status of the patients currently receiving these treatments, and retrospective data as much as allowed by the participating centers' records. Finally, a high-quality prospective dataset will be built over the ensuing years from patients with a new diagnosis of RA or SpA.

Published
2018

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

Author

Kasifoglu, Timucin, Bilge, Sule Yasar, Sari, Ismail, Solmaz, Dilek, Senel, Soner, Emmungil, Hakan, Kilic, Levent, Oner, Sibel Yilmaz, Yildiz, Fatih, Yilmaz, Sedat, Bakirli, Duygu Ersozlu, Tufan, Muge Aydin, Yilmaz, Sema, Yazisiz, Veli, Pehlivan, Yavuz, Bes, Cemal, Cetin, Gozde Yildirim, Erten, Sukran, Gonullu, Emel, Temel, Tuncer, Sahin, Fezan, Akar, Servet, Aksu, Kenan, Kalyoncu, Umut, Direskeneli, Haner, Erken, Eren, Kisacik, Bunyamin, Sayarlioglu, Mehmet, and Korkmaz, Cengiz

Published
2014
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3. New onset liver test elevations with biological treatments in patients with rheumatological diseases.

Author

Araz, Filiz and Tufan, Muge Aydin

Subjects
LIVER enzymes, RHEUMATOLOGY, CONCOMITANT drugs, HEPATITIS B, TOXICITY testing
Abstract

To identify the incidence and characteristics of liver enzyme elevations following initiation of biological treatments in patients with rheumatological diseases. Patients with rheumatological diseases taking biological treatments were analyzed retrospectively for new onset liver test abnormalities. Disease type, duration of treatment, concomitant medications, hepatitis b status and laboratory tests were recorded. Elevation of transaminases was defined as grade 1 if ALT elevation was 2--3 times the ULN, grade 2 if ALT ≥3xULN and grade 3 if ALT was ≥5xULN. RUCAM score was used to assess likelihood of causal association between liver toxicity and biological treatments. A total 418 patients were included. 46 (11%) patients had grade 2 ALT elevation. Mean treatment duration to ALT elevation from baseline was 200.5±255.4 and 67.3±54.0 days for patients with grade 2 and grade 3 ALT elevation, respectively (p:0.001). DMARDs use and the type of the biological agent used were not different for patient with grade 2 ALT elevation or not. 29 (6.9%) patients had RUCAM score of 3-5, thus possibly having DILI. No patient had RUCAM score of six or higher. Mild and transient enzyme elevations are relatively frequent with biological treatments. But, likelihood of causal association between liver toxicity and these therapies is usually low. Concurrent medications should be reviewed cautiously in each issue. [ABSTRACT FROM AUTHOR]

Published
2022
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4. Urotoxicity and safety data of low-dose intravenous cyclophosphamide therapy for rheumatic diseases: A Single-Center retrospective cohort study.

Author

Tufan, Muge Aydin, Tekkarismaz, Nihan, Dalgic, Gunay Sahin, and Yucel, Ahmet Eftal

Subjects
CYCLOPHOSPHAMIDE, HEMORRHAGE, BLADDER cancer, RHEUMATISM, HEMATURIA
Abstract

Despite its effectiveness in rheumatic diseases, cyclophosphamide (CYC) treatment should be used with caution due to its side effects. CYC is thought to pose a risk in the development of hemorrhagic cystitis and bladder cancer. This study aims to determine the incidence of hemorrhagic cystitis and bladder cancer with intravenous lowdose CYC therapy used in the treatment of rheumatic diseases. A total of 211 adult patients with rheumatic disease treated with intravenous CYC were evaluated in this retrospective study conducted between January 2006 and May 2021. Patient data including cumulative CYC dose, treatment frequency, duration of treatment, side effects, such as hemorrhagic cystitis and bladder cancer were acquired from medical archives. The mean follow-up period was 48.5 (3--180) months, and the mean cumulative CYC dose was 5g (2--19g). None of the patients received mesna therapy concurrent with CYC therapy. 11 patients developed hemorrhagic cystitis (5.2%). Hemorrhagic cystitis was found to be statistically significantly associated with the number of CYC cycles (p=0.04). All patients were asymptomatic. No statistically significant difference was observed between hemorrhagic cystitis, treatment duration, and cumulative dose for CYC therapy in rheumatic diseases. Malignancy developed in 12 patients (5.7%) after CYC treatment. Bladder cancer was observed in 1 patient. According to our findings, the only risk factor for hemorrhagic cystitis in patients receiving CYC was the number of CYC cycles. Intravenous CYC regimen did not cause symptomatic hemorrhagic cystitis. Low-dose IV CYC may be safe in terms of serious urotoxic side effects when used at the appropriate dose, duration and frequency. [ABSTRACT FROM AUTHOR]

Published
2022
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6. ASSOCIATION BETWEEN DISEASE ACTIVITY AND IL-17A/F, IL-23 AND IL-12/23 (p40) PRODUCTION BY PERIPHERAL BLOOD T LYMPHOCYTES IN BEHCET’S DISEASE

Author

Yucel, Aysegul Atak, primary, Sonmez, Cemile, additional, Yesil, Turan Hilmi, additional, Kucuk, Hamit, additional, Mercan, Ridvan, additional, Yucel, Eftal Ahmet, additional, Goker, Berna, additional, Tufan, Muge Aydin, additional, Demirel, Gulderen Yanikkaya, additional, and Sezgin, Berna, additional

Published
2016
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8. Factors That May be Associated with Uveitis in Patients with Spondyloarthritis

Author

Kasifoglu, Timucin, Bilge, Nazife Sule Yasar, Kiraz, Sedat, Ertenli, Ihsan, Kucuksahin, Orhan, Dalkilic, Ediz, Bes, Cemal, Kanitez, Nilufer Alpay, Atagunduz, Pamir, Coskun, Belkis Nihan, Yagiz, Burcu, Koca, Suleyman Serdar, Cinar, Muhammed, Ates, Askin, Akar, Servet, Gercik, Onay, Bakirli, Duygu Ersozlu, Yazisiz, Veli, Kimyon, Gezmis, Tufan, Muge Aydin, Emmungil, Hakan, ridvan mercan, Bodakci, Erdal, Oz, Burak, Akar, Zeynel Abidin, Karadag, Omer, Kelesoglu, Bahar, Yilmaz, Sedat, Ilgen, Ufuk, Pehlivan, Yavuz, Terzioglu, Ender, Kilic, Levent, Erten, Sukran, Tascilar, Koray, and Kalyoncu, Umut

9. ASSOCIATION BETWEEN DISEASE ACTIVITY AND IL-17A/F, IL-23 AND IL-12/23 (p40) PRODUCTION BY PERIPHERAL BLOOD T LYMPHOCYTES IN BEHCET'S DISEASE

Author

Yucel, Aysegul Atak, Sonmez, Cemile, Yesii, Turan Hilmi, Kucuk, Hamit, ridvan mercan, Yucel, Eftal Ahmet, Goker, Berna, Tufan, Muge Aydin, Demirel, Gulderen Yanikkaya, and Sezgin, Berna

Subjects
Immunology, Immunology and Allergy
Abstract

Exact pathogenesis of Behcet’s Disease (BD) hasn’t been known but recent studies suggest it’s a genetic-based and immune-related disease. We aimed to investigate the association between disease activity and Th1, Th17 and Treg cells in BD patients via IL-17A/F, IL-23, IL-12/23p40, IL-35 produced by these cells. We also compared our findings with those of SLE patients to investigate their specificity for immunopathogenesis of BD. 15 active and 15 inactive BD patients, 12 active and 12 inactive SLE patients and 12 sex & age-matched healthy controls were involved. Peripheral blood lymphocyte cultures were done. Supernatants from PHA-stimulated and -unstimulated cultures were measured for IL-17A/F, IL-12/23p40, IL-23 and IL-35 levels in time-dependent manner (48 and 72 hrs) by ELISA. For disease activity International Study Group Diagnostic Criteria and SLEDAI index were used for BD and SLE, respectively. IL-17 and IL-23 increased parallelly in both BD and SLE; IL-17 was higher but another Treg cytokine IL-35 was lower in active BD and active SLE compared to healthy controls. After 48 and 72 hrs of PHA stimulation the highest levels of IL-17A/F, IL-22723p40 and IL-23 were measured in active BD followed by active SLE. Our data suggest that IL-17, IL-23 and IL-12/23p40; Th17 and Th1 responses play role in pathogenesis of BD. Finding IL-35 to be lower in active BD compared to inactive BD patients and healthy controls made us think that there can be a plasticity between Th17 and Treg cells depending on disease activity. This is the first time such plasticity is suggested for BD in literature. Our findings also show that IL-17/23 axis contributes to pathogenesis of SLE (another inflammatory rheumatic disease) in addition to other mechanisms like in BD.

10. Is It Possible to Identify Psoriasis Patients Who Will Develop Axial Disease? Real Life Data from Psart (Psoriatic Arthritis Registry of Turkey)

Author

Aydin, Sibel Z., Bayndaer, Ozun, Yilmazer, Baris, Aksu, Kenan, Dalkilic, Ediz, Oksuz, Mustafa Ferhat, Tarhan, E. Figen, Can, Meryem, Kucuksahin, Orhan, Kimyon, Gezmis, Akyol, Lutfi, Onat, Ahmet Mesut, Kisacik, Bunyamin, Erden, Abdulsamet, Omma, Ahmet, Bakirli, Duygu Ersozlu, Ozisler, Cem, Gonullu, Emel, Pehlevan, Seval, Solmaz, Dilek, Cinar, Muhammet, Cetin, Gozde, Tufan, Abdurrahman, Tufan, Muge Aydin, Kilic, Levent, Erten, Sukran, Kasifoglu, Timucin, Kobak, Senol, Senel, Soner, Akar, Servet, Ozgen, Metin, Kasapoglu-Gunal, Esen, Yazisiz, Veli, Yilmaz, Sedat, Donmez, Salim, Dogan, Aesmail, Koseoglu, Hamide Kart, Erbasan, Funda, Yildiz, Fatih, Bes, Cemal, Balkarli, Ayse, Sahin, Ali, ridvan mercan, Arslan, Fatos, Dogru, Atalay, Pay, Salih, Yavuz, Sule, Cakir, Necati, Kabasakal, Yasemin, and Kalyoncu, Umut

11. Leflunomide As a Concomitant DMARD Choice for the Biological Treatment Era of Rheumatoid Arthritis

Author

Kimyon, Gezmis, Kiraz, Sedat, Ertenli, Ihsan, Kucuksahin, Orhan, Dalkilic, Ediz, Bes, Cemal, Kanitez, Nilufer Alpay, Kasifoglu, Timucin, Emmungil, Hakan, Coskun, Belkis Nihan, Yagiz, Burcu, Koca, Suleyman Serdar, Cinar, Muhammet, Ates, Askin, Akar, Servet, Bakirli, Duygu Ersozlu, Yazisiz, Veli, Bilge, Nazife Sule Yasar, Tufan, Muge Aydin, ridvan mercan, Karadag, Omer, Kelesoglu, Ayse Bahar, Gercik, Onay, Oz, Burak, Akar, Zeynel Abidin, Yilmaz, Sedat, Turan, Sezin, Pehlivan, Yavuz, Terzioglu, Ender, Kilic, Levent, Erten, Sukran, Tekgoz, Emre, Tascilar, Koray, and Kalyoncu, Umut

12. Disease Activity Indices and Body Mass Index: Cross-Sectional Analysis of a Large Psoriatic Arthritis Cohort

Author

Kalyoncu, Umut, Bayndar, Ozun, Yilmazer, Baris, Dalkilic, Ediz, Aksu, Kenan, Oksuz, Mustafa Ferhat, Tarhan, E. Figen, Can, Meryem, Kucuksahin, Orhan, Kimyon, Gezmis, Akyol, Lutfi, Onat, Ahmet Mesut, Kisacik, Bunyamin, Erden, Abdulsamet, Omma, Ahmet, Bakirli, Duygu Ersozlu, Ozisler, Cem, Gonullu, Emel, Pehlevan, Seval, Solmaz, Dilek, Cinar, Muhammet, Cetin, Gozde, Tufan, Abdurrahman, Tufan, Muge Aydin, Kilic, Levent, Erten, Sukran, Kasifoglu, Timucin, Kobak, Senol, Senel, Soner, Akar, Servet, Ozgen, Metin, Kasapoglu-Gunal, Esen, Yazisiz, Veli, Yilmaz, Sedat, Donmez, Salim, Dogan, Asmail, Koseoglu, Hamide Kart, Erbasan, Funda, Yildiz, Fatih, Bes, Cemal, Balkarli, Ayse, ALI SAHIN, Mercan, Ridvan, Arslan, Fatos, Dogru, Atalay, Pay, Salih, Yavuz, Sule, Cakir, Necati, Kabasakal, Yasemin, and Aydin, Sibel Z.

13. Exon 2: Is it the good police in familial mediterranean fever?

Author

Yavuz Pehlivan, M. Cinar, Emel Gönüllü, Dilek Solmaz, Bunyamin Kisacik, Umut Kalyoncu, Müge Aydın Tufan, Fezan Sahin, Sibel Yilmaz Oner, Eren Erken, Cemal Bes, Haner Direskeneli, Veli Yazisiz, Duygu Ersozlu Bozkirli, Ismail Sari, Gozde Yildirim Cetin, Mehmet Sayarlioglu, Levent Kilic, Şule Yaşar Bilge, Timuçin Kaşifoğlu, Fatih Yildiz, Servet Akar, Sedat Yilmaz, Soner Senel, Kenan Aksu, Hakan Emmungil, Şükran Erten, Sema Yilmaz, Çukurova Üniversitesi, Selçuk Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Yılmaz, Sema, Ege Üniversitesi, Bilge, Sule Yasar, Solmaz, Dilek, Senel, Soner, Emmungil, Hakan, Kilic, Levent, Oner, Sibel Yilmaz, Yidiz, Fatih, Yilmaz, Sedat, Bozkirli, Duygu Ersozlu, Tufan, Muge Aydin, Yilmaz, Sema, Yazisiz, Veli, Pehlivan, Yavuz, Bes, Cemal, Cetin, Gozde Yildirim, Erten, Sukran, Gonullu, Emel, Sahin, Fezan, Akar, Servet, Aksu, Kenan, Kalyoncu, Umut, Direskeneli, Haner, Erken, Eren, Kisacik, Bunyamin, Sayarlioglu, Mehmet, Cinar, Muhammed, Kasifoglu, Timucin, and Sari, Ismail

Subjects
lcsh:Immunologic diseases. Allergy, 0301 basic medicine, medicine.medical_specialty, Familial Mediterranean fever, E148Q, medicine.disease_cause, FREQUENCY, M694V, REGION, 03 medical and health sciences, Exon, 0302 clinical medicine, exon 2, familial Mediterranean fever, Internal medicine, medicine, Family history, 030203 arthritis & rheumatology, Mutation, business.industry, MEFV MUTATIONS, Amyloidosis, medicine.disease, MEFV, Rheumatology, 030104 developmental biology, Population study, Original Article, lcsh:RC581-607, business, GENE-MUTATIONS, exon 10
Abstract

WOS: 000463722100007, PubMed ID: 30489254, Objective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. Methods: Study population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics. We categorized the mutations according to their exon locations and retrieved the clinical and demographic information from the database. Results: Patients having the MEFV mutations on exon 2 or 10 (n: 1526) were divided into three subgroups according to the location of the MEFV mutations: Group 1 (exon 2 mutations), Group 2 (exon 10 mutations), and Group 3 (both exon 2 and exon 10 mutations). Group 2 patients were of a significantly younger age at onset, and erysipel-like erythema, arthritis, amyloidosis, and a family history of FMF were more common in this group. Conclusion: Patients with FMF and exon 10 mutations show more severe clinical symptoms and outcome. Exon 2 mutations tend to have a better outcome.

Published
2018

14. Amyloidosis and its related factors in turkish patients with familial mediterranean fever: A multicentre study

Author

Ismail Sari, Sibel Yilmaz Oner, Eren Erken, Yavuz Pehlivan, Şükran Erten, Kenan Aksu, Bunyamin Kisacik, Cemal Bes, Soner Senel, Hakan Emmungil, Müge Aydın Tufan, Levent Kilic, Mehmet Sayarlioglu, Timuçin Kaşifoğlu, Sema Yilmaz, Fezan Sahin, Fatih Yildiz, Sedat Yilmaz, Emel Gönüllü, Cengiz Korkmaz, Umut Kalyoncu, Gozde Yildirim Cetin, Duygu Bakirli, Haner Direskeneli, Veli Yazisiz, Şule Yaşar Bilge, Servet Akar, Tuncer Temel, Dilek Solmaz, Çukurova Üniversitesi, Ege Üniversitesi, Kasifoglu, Timucin, Bilge, Sule Yasar, Sari, Ismail, Solmaz, Dilek, Senel, Soner, Emmungil, Hakan, Kilic, Levent, Oner, Sibel Yilmaz, Yildiz, Fatih, Yilmaz, Sedat, Bakirli, Duygu Ersozlu, Tufan, Muge Aydin, Yilmaz, Sema, Yazisiz, Veli, Pehlivan, Yavuz, Bes, Cemal, Cetin, Gozde Yildirim, Erten, Sukran, Gonullu, Emel, Temel, Tuncer, Sahin, Fezan, Akar, Servet, Aksu, Kenan, Kalyoncu, Umut, Direskeneli, Haner, Erken, Eren, Kisacik, Bunyamin, Sayarlioglu, Mehmet, Korkmaz, Cengiz, İç Hastalıkları, and BAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü

Subjects
Adult, Male, medicine.medical_specialty, Delayed Diagnosis, PROGNOSIS, Turkey, MEFV, Peritonitis, Familial Mediterranean fever, Disease, M694V, Young Adult, Sex Factors, FMF, Rheumatology, Risk Factors, RISK-FACTOR, Internal medicine, Genotype, medicine, Prevalence, Humans, Pharmacology (medical), Family history, Retrospective Studies, Genetic testing, medicine.diagnostic_test, business.industry, Arthritis, Amyloidosis, Medical record, Homozygote, Middle Aged, Pyrin, medicine.disease, GENE, Familial Mediterranean Fever, GENOTYPE, Surgery, Cytoskeletal Proteins, Kidney Failure, Chronic, Female, business
Abstract

WOS: 000333263500025, PubMed ID: 24369413, 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). Conclusion. 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.

Published
2014

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