Abstracts tagged "FMF"

Abstract Number: 2021 • ACR Convergence 2025
Can Colchicine Be a Therapeutic Option for Patients with Ankylosing Spondylitis?
Muhammed Bahaddin Ates¹ and serdal Ugurlu², ¹Cerrahpasa Faculty of Medicine, Istanbul, Turkey, ²Istanbul University-Cerrahpasa, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey
Background/Purpose: Ankylosing Spondylitis (AS) is a subtype of spondyloarthritis (SpA), a group of inflammatory diseases. AS is influenced by a complex interplay of factors arising…
Abstract Number: 1651 • ACR Convergence 2025
Compound Heterozygosity for the Ile692del and Val726Ala Pathogenic MEFV Variants and Elevated IL-18 (CHIVE-18 syndrome) Is Distinct from Familial Mediterranean Fever (FMF) and Includes a Pronounced Response to Interferon Stimulation in Myeloid Cell Populations
Mary Maclean¹, Sabrina Helmold Hait², Cindy Phung³, Deborah Stone⁴, Sophie georgin-Lavialle⁵, Scott Canna⁶, Carl Esperanzate⁷, Amanda Ombrello⁸, Daniel Kastner⁹, Ivona Aksentijevich¹⁰ and Massimo Gadina¹¹, ¹NIH-NIAMS, Rockville, MD, ²NIAMS/NIH, Bethesda, MD, ³National Institute of Arthritis, Musculoskeletal, and Skin Diseases (NIAMS), Bethesda, MD, ⁴NIH, Bethesda, MD, ⁵Sorbonne university, Tenon hospital, DMU³ID, CEREMAIA, ERN RITA, Paris, France, ⁶Children's Hospital of Philadelphia, Philadelphia, PA, ⁷National Human Genome research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD, ⁸National Institutes of Health, Rockville, MD, ⁹National Human Genome Research Institute, Bethesda, MD, ¹⁰¹⁰⁰, Bethesda, MD, ¹¹National Institute of Arthritis Musculoskeletal and Skin diseases, Bethesda, MD
Background/Purpose: Familial Mediterranean fever (FMF) is an autoinflammatory disease associated with biallelic pathogenic variants in the MEFV gene encoding the myeloid-restricted inflammasome sensor pyrin. The…
Abstract Number: 1177 • ACR Convergence 2025
Pregnancy Outcomes in Women with Familial Mediterranean Fever Treated with Anakinra: A Retrospective Study
Bilgesu Ergezen¹, Ozgur Can Kilinc², Bugra Egeli³, Oguzhan Omer Kizilkaya², Kerem parlar⁴, Enes Azman², Huri ozdogan¹ and serdal Ugurlu⁵, ¹Istanbul University-Cerrahpasa, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, İstanbul, Turkey, ²Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey, ³Children's Hospital of Los Angeles, Los Angeles, CA, ⁴Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, İstanbul, Turkey, ⁵Istanbul University-Cerrahpasa, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey
Background/Purpose: Familial Mediterranean Fever (FMF) is an autoinflammatory disease mainly treated with colchicine. Anakinra, an interleukin-1 receptor antagonist, is used for colchicine-resistant cases. However, data…
Abstract Number: 0779 • ACR Convergence 2025
Interim Results of a Randomized Placebo Controlled Study of IL-1 Inhibitor Goflikicept in Patients With Familial Mediterranean Fever
Olga Uhanova¹, serdal Ugurlu², Mikhail Kostik³, Tamara Sarkisyan⁴, Anna Yeghiazaryan⁴, Lidiya Lysenko⁵, Vilen Rameev⁵, Omer Karadag⁶, Valentina Vardanyan⁷, Veli Yazisiz⁸, Tatiana Sotnikova⁹, Vyacheslav Podsvirov¹, Alina Egorova¹⁰, Daria Bukhanova¹⁰, Sergey Grishin¹⁰, Tolga Tuncel¹¹, Mikhail Samsonov¹⁰ and Ahmet Gul¹², ¹Terafarm LLC, Stavropol, Russia, ²Istanbul University-Cerrahpasa, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, ³Saint-Petersburg State Pediatric Medical University, Saint Petersburg, Russia, ⁴Center of Medical Genetics and Primary Health Care LTD, Yerevan, Armenia, ⁵Sechenov’s ¹st State Moscow Medical University, Moscow, Russia, ⁶Division of Rheumatology, Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Turkey, ⁷Ecosense Diagnostic Center, Yerevan, Armenia, ⁸Akdeniz University, Faculty of Medicine, Antalya, Turkey, ⁹State Budgetary Institution of Healthcare of Moscow Multispeciality Hospital named after S.P. Botkin of the Moscow City and Sechenov University, Moscow, Russia, ¹⁰R-Pharm JSC, Moscow, Russia, ¹¹TRpharm, Istanbul, Turkey, ¹²Istanbul University, Istanbul Faculty of Medicine, Division of Rheumatology, Istanbul, Istanbul, Turkey
Background/Purpose: Goflikicept (GFC; RPH-104) is a novel fusion protein inhibiting interleukin-1 (IL-1). This study aimed to investigate its efficacy and safety in IL-1β-driven monogenic autoinflammatory…
Abstract Number: 0237 • ACR Convergence 2025
Monogenic autoinflammatory diseases and undefined autoinflammatory syndrome in Western Mediterranean adults: clinical, genetic, and therapeutic insights
Alba Maria Torrat Noves¹, José Ivorra Cortes², Alejandro Jose Mateo Vendrell², ELENA GRAU GARCIA³, Pablo Muñoz Martinez², Laura Mas Sanchez⁴, Daniel Ramos Castro⁵, Iago Alcántara Álvarez⁶, Belen Villanueva Manes⁷, Andres perez Hurtado², Miguel Simeo Vinaixa², inmaculada Calvo Penades⁸, Berta López Montesinos⁸, Lucia Lacruz-perez⁸ and José Andrés Román Ivorra⁹, ¹Hospital Universitari i Politècnic La Fe de Valencia, Valencia, Spain, ²Rheumatology Department. HUP La Fe, Valencia, Spain, ³HUP La Fe, Valencia, Comunidad Valenciana, Spain, ⁴Hospital Universitari i Politecnic La Fe, València, Spain, ⁵Hospital Universitari i Politecnic La Fe, Valencia, Spain, ⁶Hospital Universitari i Politénic La Fe, València, Spain, ⁷Hospital La Fe, València, Spain, ⁸Pediatric Rheumatology Department. HUP La Fe, Valencia, Spain, ⁹Hospital Universitari i Politècnic La Fe, Valencia, Spain
Background/Purpose: Monogenic autoinflammatory diseases are rare innate immunity disorders characterized by recurrent episodes of fever and systemic inflammation. They are most often described in childhood,…
Abstract Number: 2667 • ACR Convergence 2025
Amyloidosis Secondary to Familial Mediterranean Fever: Machine Learning Based Prediction Models
Berkay Aktas¹, Enes Azman¹, Yusuf Ecren Oner², kadir Kaya², husnu Mert Yuksel³, Ali Hosgel², Dilan Karahan², Zehra Beyza Coban², Kerem parlar⁴, Ozgur Can Kilinc¹, Beste Acar¹ and serdal Ugurlu⁵, ¹Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey, ²Istanbul University-Cerrahpasa, Istanbul, Turkey, Istanbul, Turkey, ³Istanbul University-Cerrahpasa, Istanbul, Turkey, Istanbul, Istanbul, Turkey, ⁴Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, İstanbul, Turkey, ⁵Istanbul University-Cerrahpasa, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey
Background/Purpose: Familial Mediterranean Fever (FMF) is a monogenic autoinflammatory disease caused by MEFV mutations. Amyloidosis remains its most serious complication, with several risk factors reported…
Abstract Number: 2043 • ACR Convergence 2025
Renal Outcomes of Long-term Canakinumab in Patients with Adult Familial Mediterranean Fever (FMF) and Biopsy-Confirmed AA Amyloidosis
Büşra Fırlatan Yazgan¹, Gözde Sevgi Kart bayram¹, Buğu Bulat¹, Levent Kılıç¹, Tolga Yildirim², Umut Kalyoncu¹, Şule Apraş Bilgen¹, Ali İhsan Ertenli¹, Seref Rahmi Yilmaz² and Omer Karadag³, ¹Division of Rheumatology, Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Turkey, Ankara, Turkey, ²Division of Nephrology, Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Turkey, Ankara, Turkey, ³Division of Rheumatology, Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Turkey
Background/Purpose: Canakinumab, an interleukin-1β inhibitor, has demonstrated efficacy in treating colchicine-resistant/intolerant familial Mediterranean fever (FMF). This study aims to assess the efficacy and safety of…
Abstract Number: 0301 • ACR Convergence 2024
Path to Diagnosis in Familial Mediterranean Fever (FMF)
Sejla Karup¹, Dila Polat², Erengul Dincsoy², Feyza Nur Azman², Mahir Emir Cokrak², Ertan Berkiten² and Serdal Ugurlu³, ¹Cerrahpasa Faculty of Medicine, Istanbul, Turkey, ²Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey, ³Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Familial Mediterranean Fever (FMF) is a genetic disorder characterized by recurrent febrile episodes and inflammation, most commonly presenting with peritonitis, pleuritis, and arthritis. The…
Abstract Number: 0307 • ACR Convergence 2024
Mean Metacarpophalangeal Extension to Clinically Quantify Flexor Fibro-inflammatory Hand Involvement in Diabetes
Sanat Phatak¹, Rucha Wagh², Smita Dhadge², Sarita Jadhav², Parth Ladha³, Rishi Nalkande⁴, Rohan Shah², Jennifer Ingram⁵ and Chittaranjan Yajnik², ¹KEM Hospital Research Centre, Pune, Maharashtra, India, ²KEM Hospital Research Centre, Pune, India, ³Byramjee Jeejeebhoy Government Medical College, Pune, Maharashtra, India, ⁴BJ Government Medical College, Pune, India, ⁵Duke University Medical Center, Durham, NC
Background/Purpose: Hand manifestations (limited joint mobility, [LJM]; flexor tenosynovitis, [FT]; carpal tunnel syndrome, [CTS]; Dupuytren disease, [DD]) are common complications in diabetes. Despite their heterogeneity…
Abstract Number: 0922 • ACR Convergence 2024
Generation and Pathophysiological Analysis of M694I Variant Knock-in Mice of Human MEFV Gene: Insights from Single-Cell RNA Sequencing
Tomohiro Koga, Yoshika Tsuji and Atsushi Kawakami, Nagasaki University, Nagasaki, Japan
Background/Purpose: The primary objective of this study was to generate knock-in mice with the M694I variant of the human MEFV gene, a critical variant in…
Abstract Number: 1108 • ACR Convergence 2024
The Needed Daily Dose of Colchicine in Patients with Familial Mediterranean Fever May Be Higher in Women, a Study on Behalf of the JIR Cohort
Ilenia Di Cola¹, Alessandra Bartoli², Lea Savey³, Fatima Bensalek⁴, Marion Delplanque⁴, Rim bourguiba⁴, Zohra Aknouche⁴, Isabelle Kone Paut⁵, Linda Rossi Semerano⁵, Isabelle Melki⁶, Brigitte Bader-Meunier⁷, Bénédicte Neven⁶, PIERRE QUARTIER⁸, Guilaine Boursier⁹, Irina Giurgea¹⁰, Laurence Cuisset¹¹, Gilles Grateau⁴, Veronique Hentgen¹² and Sophie Georgin-lavialle¹³, ¹University of L'Aquila, L'Aquila, Italy, ²Internal Medicine Department, Tenon Hospital, AP-HP, Paris, France, italy, Italy, ³Internal Medicine Department, Tenon Hospital, AP-HP, Paris, France, france, France, ⁴Internal Medicine Department, Tenon Hospital, AP-HP, Paris, France, Paris, France, ⁵Kremlin Bicêtre hospital, Le Kremlin Bicêtre, France, ⁶Necker Hospital, Paris, France, ⁷Necker Hospital, Assistance Publique Hopitaux de Paris, Paris, France, ⁸Université Paris-Cite, IMAGINE Institute, Necker Children’s Hospital, Paris Cedex 15, France, ⁹University of Montpellier, Montpellier, ¹⁰Trousseau hospital, Paris, France, ¹¹Cochin hospital, Paris, France, ¹²Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CEREMAIA, CHU de Montpellier, Univ Montpellier, Montpellier, France, Le Chesnay, France, ¹³Sorbonne Université, Department of internal medicine, Tenon Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
Background/Purpose: Familial Mediterranean Fever (FMF) is the most common autoinflammatory monogenic disease worldwide, and it is associated with mutations in MEFV gene. Colchicine is the…
Abstract Number: 1129 • ACR Convergence 2024
Machine Learning Algorithms to Predict Colchicine Resistance in Familial Mediterranean Fever
Admir Öztürk¹, Murad Kucur², Lara Yagci¹ and Serdal Ugurlu³, ¹Istanbul University - Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Turkey, ²Istanbul University-Cerrahpasa, Engineering Faculty, Mechanical Engineering Department, Istanbul, Turkey, ³Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Familial Mediterranean Fever (FMF) is a monogenic autoinflammatory disease caused by mutations in the MEFV gene. Colchicine is the first-line treatment of FMF. Although…
Abstract Number: 2029 • ACR Convergence 2024
Iron Deficiency in Familial Mediterranean Fever: A Study on 211 Adult Patients from the JIR Cohort
Ilenia Di Cola¹, Lea Savey², Marion Delplanque³, Rim bourguiba³, Alessandra Bartoli⁴, Zohra Aknouche³, Fatima Bensalek³, Isabelle Kone Paut⁵, Linda Rossi Semerano⁵, Isabelle Melki⁶, Brigitte Bader-Meunier⁷, Bénédicte Neven⁶, PIERRE QUARTIER⁸, Guilaine Boursier⁹, Irina Giurgea¹⁰, Laurence Cuisset¹¹, Gilles Grateau³, Veronique Hentgen¹² and Sophie Georgin-lavialle¹³, ¹University of L'Aquila, L'Aquila, Italy, ²Internal Medicine Department, Tenon Hospital, AP-HP, Paris, France, france, France, ³Internal Medicine Department, Tenon Hospital, AP-HP, Paris, France, Paris, France, ⁴Internal Medicine Department, Tenon Hospital, AP-HP, Paris, France, italy, Italy, ⁵Kremlin Bicêtre hospital, Le Kremlin Bicêtre, France, ⁶Necker Hospital, Paris, France, ⁷Necker Hospital, Assistance Publique Hopitaux de Paris, Paris, France, ⁸Université Paris-Cite, IMAGINE Institute, Necker Children’s Hospital, Paris Cedex 15, France, ⁹University of Montpellier, Montpellier, ¹⁰Trousseau hospital, Paris, France, ¹¹Cochin hospital, Paris, France, ¹²Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CEREMAIA, CHU de Montpellier, Univ Montpellier, Montpellier, France, Le Chesnay, France, ¹³Sorbonne Université, Department of internal medicine, Tenon Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
Background/Purpose: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease worldwide. Fatigue is known to trigger FMF attacks. So far, no association has…
Abstract Number: 2043 • ACR Convergence 2024
Evaluation of Medication Adherence of FMF Patients Transitioned from a Pediatric Clinic to an Adult Clinic: A Cross-sectional Study
Fatma Zehra Avci¹, Feyza Nur Azman², Elif Sila Unsal³ and Serdal Ugurlu⁴, ¹Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey, ²Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey, ³Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey, Istanbul, ⁴Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Familial Mediterranean Fever (FMF) typically begins in childhood. It has been demonstrated that colchicine can reduce FMF attacks, prevent the development of amyloidosis, and…
Abstract Number: 2339 • ACR Convergence 2024
Increased Risk of Psoriatic Arthritis in Patients with Familial Mediterranean Fever: A Population-Based Cohort Study
Devy Zisman¹, Beatris Slutsker², Nili Stein³, Tal Gazitt⁴, Amir Haddad⁵, Ilan Feldhamer⁶, Arnon Dov Cohen⁶ and Walid Saliba³, ¹Carmel Medical Center, Haifa, Israel, ²The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel, ³Department of Community Medicine and Epidemiology, Haifa, Israel, ⁴Carmel Hospital, Haifa, Israel, ⁵Carmel Medical Centre, Haifa, Israel, ⁶Chief Physician’s Office, Central Headquarters, Tel Aviv, Israel
Background/Purpose: Familial Mediterranean fever (FMF) is considered the prototype of autoinflammatory diseases, typically regarded as recessively inherited and caused by mutations in the pyrin protein…

All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM CT on October 25. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].