Abstracts tagged "FMF"

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…
Abstract Number: 0551 • ACR Convergence 2023
Monogenic Lupus: Clinical Phenotypes and Genetic Mutations in a Cohort of Pediatric Patients
Keerthi Vardhan Yerram¹, Kavitha Shanigaaram¹, Gaurang Sudhir Deshpande¹, Akshay Parikh¹, Arjun Ramavath¹, Nanditha Gollakota¹, Ramesh Manthri¹ and Liza Rajasekhar², ¹Department of Clinical Immunology and Rheumatology, Nizams Institute of Medical Sciences, Hyderabad, India, ²Nizam's Institute of Medical Sciences, Madhapur, India
Background/Purpose: Monogenic lupus is associated with specific gene mutations, most commonly reported in TREX1, DNASE1L3, DNASE2, and SAMHD1. However, their phenotypes are not well reported.…
Abstract Number: 0573 • ACR Convergence 2023
Presence of Mediterranean Fever Gene Variants Provides Protection from the Development of Lupus Nephritis in Patients with Systemic Lupus Erythematosus
Yushiro Endo¹, Tomohiro Koga¹ and Atsushi Kawakami², ¹Department of Immunology and Rheumatology, Division of Advanced Preventive Medical Sciences, Nagasaki University, Nagasaki, Japan, ²Nagasaki University, Nagasaki, Japan
Background/Purpose: Previous studies showed that the prevalence of variants in Mediterranean Fever (MEFV) genes was lower in adult patients with SLE compared to healthy population…
Abstract Number: 0138 • ACR Convergence 2022
Patients with Familial Mediterranean Fever (FMF) Under Canakinumab Treatment – Long-term Efficacy and Safety Interim Data of the RELIANCE Registry
Joerg Henes¹, Jasmin B. Kuemmerle-Deschner², Tobias Krickau³, Tilmann Kallinich⁴, Frank Dressler⁵, Gerd Horneff⁶, Florian Meier⁷, Ivan Foeldvari⁸, Frank Weller-Heinemann⁹, Birgit Kortus-Goetze¹⁰, Markus Hufnagel¹¹, Juergen Rech¹², Prasad T. Oommen¹³, Julia Weber-Arden¹⁴ and Norbert Blank¹⁵, ¹Center for Interdisciplinary Clinical Immunology, Rheumatology and Auto-inflammatory Diseases (INDIRA), University Hospital Tübingen, Tübingen, Germany, ²Department of Pediatrics, Division of Pediatric Rheumatology, University Hospital Tübingen, Tübingen, Germany, ³Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Pediatrics, Erlangen, Germany, ⁴Charité - Universitätsmedizin Berlin, Nuremberg, Germany, ⁵Division of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany, ⁶Pediatrics, Asklepios Klinik Sankt Augustin GmbH, Sankt Augustin, Germany, ⁷Division of Rheumatology, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany, and Fraunhofer Institute for Molecular Biology and Applied Ecology IME, Project Group Translational Medicine and Pharmacology TMP, Frankfurt, Germany, ⁸Hamburger Zentrum für Kinder- und Jugendrheumatologie, Hamburg, Germany, ⁹Klinikum Bremen-Mitte, Prof. Hess Kinderklinik, Bremen, Germany, ¹⁰Division of Nephrology, University of Marburg, Marburg, Germany, ¹¹Division of Pediatric Infectious Diseases and Rheumatology, Department of Pediatrics and Adolescent Medicine, University Hospital Medical Center Freiburg, Medical Faculty, University of Freiburg, Freiburg, Germany, ¹²University Clinic Erlangen, Erlangen, Germany, ¹³Clinic of Pediatric Hematology, Oncology and Clinical Immunology, Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany, ¹⁴Novartis Pharma GmbH, Nuernberg, Germany, ¹⁵Rheumatology, University Hospital Heidelberg, Heidelberg, Germany
Background/Purpose: Familial Mediterranean fever (FMF) is a chronic disease characterized by recurrent episodes of fever and serositis, with a risk of severe complications (e. g.…
Abstract Number: 0149 • ACR Convergence 2022
Autoinflammatory Diseases Associated with NOD2 and Other Concurrent Genetic Mutations
Hafsa Nomani, Brianne Navetta-Modrov, Mark Yun and QingPing Yao, Stony Brook University, Stony Brook, NY
Background/Purpose: Systemic autoinflammatoy diseases (SAIDs) are primarily caused by abnormal innate immune response. NOD-like receptors (NLRs) are intracellular sensors to the immune process, including NOD2,…
Abstract Number: 1830 • ACR Convergence 2022
Characteristics of Arthritis in Familial Mediterranean Fever Patients
Ali Yagiz Ayla¹, Selcan Yenigun², sura nur baspinar³, Mebrure Burcak Yuzbasioglu², Arif Alkan³, Ibrahim Durucan³, mert kirman³, baran can polat³, sercan ergun³, Serdal Ugurlu¹ and Huri Ozdogan³, ¹Istanbul University-Cerrahpaşa, Istanbul, Turkey, ²Istanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine, Istanbul, Turkey, ³Istanbul University-Cerrahpaşa Medical Faculty, Istanbul, Turkey
Background/Purpose: Arthritis is one of the most common manifestations in an FMF attack. It is usually in the form of acute mono- or oligoarthritis of…
Abstract Number: 1834 • ACR Convergence 2022
Canakinumab Treatment in Familial Mediterranean Fever Patients with Colchicine Resistance: A Single-center Study
Ibrahim Durucan¹, Ali Yagiz Ayla², Helin Idil Besiroglu¹, Arif Alkan¹, Oguzhan Selvi¹, Huri Ozdogan¹ and Serdal Ugurlu², ¹Istanbul University-Cerrahpaşa Medical Faculty, Istanbul, Turkey, ²Istanbul University-Cerrahpaşa, Istanbul, Turkey
Background/Purpose: Recurrent fever and serositis are the hallmarks of Familial Mediterranean fever (FMF). Colchicine is known for yielding high success in disease control by obviating…
Abstract Number: 1839 • ACR Convergence 2022
Appendicitis Still a Challenge for FMF Patients?
Şura Nur Başpınar¹, Arif Alkan², Mebrure Burcak Yuzbasioglu³, Selcan Yenigun³, Ali Yagiz Ayla⁴, Ibrahim Durucan², Mert Candan², Ali Karabiçek², Çağrı Belli², Tuğba Bayraktar², Helin Idil Besiroglu², Huri Ozdogan⁵ and Serdal Ugurlu⁴, ¹İstanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine, Istanbul, Turkey, ²Istanbul University-Cerrahpaşa Medical Faculty, Istanbul, Turkey, ³Istanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine, Istanbul, Turkey, ⁴Istanbul University-Cerrahpaşa, Istanbul, Turkey, ⁵Istanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine Division of Rheumatology, Istanbul, Turkey
Background/Purpose: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease that is characterized by recurrent episodes of polyserositis. Episodes typically consist of fever, peritonitis, and…

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