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familial Mediterranean fever

Gernot Kriegshäuser, Dietmar Enko, Hasmik Hayrapetyan, Stepan Atoyan, Christian Oberkanins, Tamara Sarkisian
PurposeThis work aimed at investigating demographic, clinical, and genetic characteristics of individuals experiencing their first familial Mediterranean fever (FMF) attack at age ≥40 years in a very large cohort of Armenian FMF patients.MethodsIn total, 10,370 Armenian patients diagnosed with FMF based on the Tel Hashomer criteria and carrying at least one MEFV mutant allele were included in this study.ResultsA total of 354 (3.40%) patients had late-onset FMF. Of these, 194 (54.80%) were female and 160 (45...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Karin P S Langenberg-Ververgaert, Ronald M Laxer, Angela S Punnett, L Lee Dupuis, Yaron Finkelstein, Oussama Abla
Familial Mediterranean fever (FMF) has been associated with hematological malignancies but has not been reported in association with Hodgkin lymphoma (HL). We hereby describe the first pediatric patient with FMF and stage IIA nodular sclerosis HL. She was treated with prednisone, doxorubicin, vincristine and etoposide (OEPA) being on therapy with colchicine. However, she suffered more than expected treatment-related toxicity attributed either to chemotherapy (severe neutropenia) or colchicine (Abdominal pains and diarrhoea)...
2018: Mediterranean Journal of Hematology and Infectious Diseases
Shams Kholoussi, Naglaa Kholoussi, Moushira Erfan Zaki, Hala T El-Bassyouni, Hala Elnady, Botros Morcos, Asem Abo-Shanab
OBJECTIVE: This study aimed to investigate T & B lymphocyte subsets and Natural Killer (NK) cells patterns in children with FMF versus normal control subjects, to estimate the immunoglobulins IgG, IgM, and IgA levels, and to scrutinize the possible use of Neutrophil / Lymphocyte ratio (NLR) as a marker for subclinical inflammation in FMF patients. PATIENTS AND METHODS: A group of 42 patients with FMF attending the Genetics Clinic at National Research Centre were included in this study...
February 15, 2018: Open Access Macedonian Journal of Medical Sciences
Kazuki Kimura, Masafumi Mizooka, Kiyoshi Migita, Ryoko Ishida, Masatoshi Matsumoto, Satoshi Yamasaki, Nobusuke Kishikawa, Akihiro Kawahara, Yuka Kikuchi, Yuichiro Otani, Tomoki Kobayashi, Daisuke Miyamori, Takuya Ikuta, Hiroshi Nakamura, Kenichi Yokobayashi, Shuichi Iwamoto, Keishi Kanno, Hiromasa Ohira, Susumu Tazuma
Familial Mediterranean fever (FMF) is the most common genetic autoinflammatory disease, but it has been considered a rare disease in Japan. We herein describe five patients with FMF who were diagnosed both clinically and genetically at a single Japanese institute. A genetic investigation of MEFV detected heterozygosity for the compound mutations L110P/E148Q (n=2) and L110P/148Q/P369S/R406Q (n=1), and heterozygosity for M694I (n=1) and S503C (n=1). Colchicine prevented febrile attacks and accompanying symptoms in four patients...
March 9, 2018: Internal Medicine
S Georgin-Lavialle, V Hentgen, K Stankovic Stojanovic, C Bachmeyer, F Rodrigues, L Savey, S Abbara, P-L Conan, T Fraisse, M Delplanque, A Rouet, N Sbeih, I Koné-Paut, G Grateau
Familial Mediterranean Fever (FMF) is the most frequent monogenic auto-inflammatory disease. FMF is an autosomal recessive disease, which affects populations from Mediterranean origin and is associated with MEFV gene mutations encoding for the protein pyrin. Pyrin activation enhances the secretion of interleukin 1 by myelo-monocytic cells. Main features of the disease are acute attacks of serositis mainly located on the abdomen, less frequently on chest and joints, accompanied by fever and biological inflammatory markers elevation...
March 8, 2018: La Revue de Médecine Interne
Özlem Fentoğlu, Gözde Dinç, Atalay Doğru, Nermin Karahan, İlter İlhan, F Yeşim Kırzıoğlu, Mehmet Fatih Şentürk, Hikmet Orhan
BACKGROUND: There are no published studies regarding the role of the plasminogen (PLG) system in familial Mediterranean fever (FMF), FMF-associated secondary amyloidosis, or chronic periodontitis (CP), although recent limited data have focused on the association between FMF and chronic periodontitis. Therefore, the aim of this study was to evaluate the serum, salivary, and gingival tissue levels of PLG in patients with CP, FMF, and amyloidosis. METHODS: The study population included 122 patients with FMF (only FMF, and FMF and amyloidosis and 128 individuals who were systemically healthy controls...
February 21, 2018: Journal of Periodontology
Kensuke Asakura, Shunichi Yanai, Shotaro Nakamura, Keisuke Kawaski, Makoto Eizuka, Kazuyuki Ishida, Masaki Endo, Tamotsu Sugai, Kiyoshi Migita, Takayuki Matsumoto
RATIONALE: Familial Mediterranean fever (FMF) is the most common form of autoinflammatory disease. We report a rare case of FMF with gastrointestinal lesions mimicking Crohn disease. PATIENT CONCERNS: A 21-year-old Japanese man was referred to our institution, complaining of refractory diarrhea and weight loss of 14 kg during the past two years. He had presented with recurrent fever, abdominal pain, anal fistula and stomatitis. His father and one of his brothers had ulcerative colitis...
January 2018: Medicine (Baltimore)
S Georgin-Lavialle, F Rodrigues, V Hentgen, A Fayand, P Quartier, B Bader-Meunier, C Bachmeyer, L Savey, C Louvrier, G Sarrabay, I Melki, A Belot, I Koné-Paut, G Grateau
Monogenic auto-inflammatory diseases are characterized by genetic abnormalities coding for proteins involved in innate immunity. They were initially described in mirror with auto-immune diseases because of the absence of circulating autoantibodies. Their main feature is the presence of peripheral blood inflammation in crisis without infection. The best-known auto-inflammatory diseases are mediated by interleukines that consisted in the 4 following diseases familial Mediterranean fever, cryopyrinopathies, TNFRSF1A-related intermittent fever, and mevalonate kinase deficiency...
February 28, 2018: La Revue de Médecine Interne
Maria Zerkaoui, Fatima Zahra Laarabi, Yousra Ajhoun, Bouchra Chkirate, Abdelaziz Sefiani
BACKGROUND: Familial Mediterranean fever is an autoinflammatory disease of unknown etiology, characterized clinically by recurrent attacks of sudden-onset fever with arthralgia and/or thoracoabdominal pain and pathogenetically by autosomal recessive inheritance due to a mutation in the MEFV gene. Behçet's disease is an inflammatory disease characterized by recurrent oral and genital aphthous ulcerations, uveitis, and skin lesions. Preliminarily, our literature review suggested that patients with familial Mediterranean fever who also have Behçet's disease have only a single mutated familial Mediterranean fever gene...
March 1, 2018: Journal of Medical Case Reports
Omer Karadag, David J Jayne
Polyarteritis nodosa (PAN) is a rare form of primary systemic vasculitis with heterogeneous presentations, treatments and disease course. Historical approaches to classification and diagnostic terminology are reviewed. Since differentiation of PAN from microscopic polyangiitis (MPA) and other ANCA vasculitides by the Chapel Hill conference statements, and with hepatitis associated PAN defined as a secondary vasculitis, the phenotyping and subclassification of PAN has received little attention. Monogenic disorders similar to PAN have been described (familial Mediterranean fever, Adenosine Deaminase-2 deficiency), and cutaneous PAN and single organ vasculitis, discussed...
February 20, 2018: Clinical and Experimental Rheumatology
Bilade Cherqaoui, Linda Rossi-Semerano, Sophie Georgin-Lavialle, Perrine Dusser, Caroline Galeotti, Maryam Piram, Véronique Hentgen, Isabelle Touitou, Isabelle Koné-Paut
OBJECTIVES: Children with Familial Mediterranean fever may suffer from musculoskeletal involvement, somewhat difficult to distinguish from juvenile spondyloarthritis. The association of these two diseases has been scarcely reported in children. Objectives of this work were to define the association of familial Mediterranean fever and juvenile spondyloarthritis in France. METHODS: Three cohorts of children with familial Mediterranean fever, juvenile spondyloarthritis, familial Mediterranean fever related juvenile spondyloarthritis, were retrospectively identified in the French reference center of auto-inflammatory diseases...
February 13, 2018: Joint, Bone, Spine: Revue du Rhumatisme
Fatma Yazılıtaş, Özlem Aydoğ, Sare Gülfem Özlü, Evrim Kargın Çakıcı, Tülin Güngör, Fehime Kara Eroğlu, Gökçe Gür, Mehmet Bülbül
Familial Mediterranean fever (FMF), the most common hereditary autoinflammatory disorder is characterized by recurrent episodes of fever, serositis, arthritis. The major long-term result is amyloidosis. Colchicine remains the principle of the treatment; it not only prevents the acute attacks but also prevents the long-term complications such as amyloidosis; 5-10% of the patients are unresponsive to treatment. Recently new therapeutic options as anti-interleukin 1 agents are successfully used for the patients who do not respond to colchicine treatment...
February 15, 2018: Rheumatology International
Tolga Yildirim, Rahmi Yilmaz, Muge Uzerk Kibar, Yunus Erdem
Colchicine is the first-line treatment for familial Mediterranean fever (FMF), preventing both inflammatory attacks as well as the development of amyloidosis in the majority of the patients. However approximately 5-10% of patients are colchicine resistant/intolerant. Side effects of colchicine are more prominent in renal transplant recipients due to interaction with immunosuppressive drugs. Anti-interleukin (IL)-1 drugs (anakinra, canakinumab and rilonacept) have emerged as the most promising drugs in the treatment of colchicine-resistant and/or intolerant FMF...
February 14, 2018: Journal of Nephrology
Hacer Orsdemir Hortu, Emin Karaca, Betul Sozeri, Nesrin Gulez, Balahan Makay, Cumhur Gunduz, Tahir Atik, Ismihan Merve Tekin, Sevket Erbil Unsal, Cogulu Ozgur
Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder that can result in attacks with accompanying recurrent episodes of fever, serositis, and skin rash. MiRNAs are demonstrated to be associated with a number of other diseases; however, no comprehensive study has revealed its association with FMF disease. The aim is to investigate the role of microRNAs in FMF. We included 51 patients with genetically diagnosed FMF who had clinical symptoms and 49 healthy volunteers. Fifteen miRNAs that were found to be associated with autoinflammatory diseases and have a part in immune response were evaluated...
February 13, 2018: Clinical Rheumatology
Kieran P Robinson, Jonathan J Chan
Colchicine is an anti-inflammatory agent that has been used for decades for the treatment of various diseases including gout, familial Mediterranean fever and pericarditis and in recent years for dermatological indications including chronic urticaria, cutaneous vasculitis and psoriasis. Despite its efficacy in various cutaneous diseases, the use of colchicine may be limited by concerns over its side-effects and the potential for toxicity. This article reviews the current literature on the pharmacology of colchicine and its clinical applications in dermatology...
February 12, 2018: Australasian Journal of Dermatology
Seung Woon Park, Sam Ryong Jee, Ji Hyun Kim, Sang Heon Lee, Jin Won Hwang, Ji Geon Jang, Dong Woo Lee, Sang Yong Seol
Amyloidosis is defined as the extracellular deposition of non-branching fibrils composed of a variety of serum-protein precursors. Secondary amyloidosis is associated with several chronic inflammatory conditions, such as rheumatologic or intestinal diseases, familial Mediterranean fever, or chronic infectious diseases, such as tuberculosis. Although the association of amyloidosis with inflammatory bowel disease is known, amyloidosis secondary to ulcerative colitis (UC) is rare. A 36-year-old male patient with a 15-year history of UC presented with nausea, vomiting, and abdominal pain...
January 2018: Intestinal Research
Burak Tanyıldız, Mehmet Engin Tezcan, Baran Kandemir, Nesrin Tutaş Günaydın, Eren Göktaş, Aise Tangılntız, Aysu Karatay Arsan
BACKGROUND: The purpose of this study is to investigate whether oral colchicine has an effect on peripapillary retinal nerve fiber layer (pRNFL) thickness of familial Mediterranean fever (FMF) patients. METHODS: We conducted a cross sectional study by comparing pRNFL thickness of FMF patients on colchicine (treated group), newly diagnosed colchicine naïve FMF patients (untreated group) and healthy controls. The study included 66 FMF patients and 32 healthy control subjects...
February 5, 2018: BMC Ophthalmology
S Gangemi, S Manti, V Procopio, M Casciaro, E Di Salvo, M Cutrupi, G Ganci, C Salpietro, R Chimenz, C Cuppari
Familial Mediterranean fever (FMF) is the most common autosomal recessive autoinflammatory disease. To date, following the isolation of more than 280 MEFV sequence variants, the genotype-phenotype correlation in FMF patients has been intensively investigated; however, an univocal and clear consensus has not been yet reached. Thus, the aim of this systematic review was to analyze the available literature findings in order to provide to scientific community an indirect estimation of the impact of genetic factors on the phenotypic variability of FMF...
February 2, 2018: Clinical Genetics
M E Capra, N G De Paulis, M Montagni, S Peveri, E Savi, G Biasucci
Anakinra, one of the novel biological agents, is a recombinant human IL-1 receptor antagonist. It is preferred as an alternative drug for familial Mediterranean fever cases where colchicine is not sufficient or cannot be used due to its side effects. Like all other biologics, hypersensitivity reactions to anakinra are quite rare. This is the first case which was successfully desensitized with anakinra after a severe immediate-type hypersensitivity reaction. We report a case of WDEIA in an asthmatic boy admitted to our Unit with suspected mushroom acute toxicity...
November 23, 2017: European Annals of Allergy and Clinical Immunology
I YIlmaz, M Türk, S Nazik Bahçecioğlu
Anakinra, one of the novel biological agents, is a recombinant human IL-1 receptor antagonist. It is preferred as an alternative drug for familial Mediterranean fever cases where colchicine is not sufficient or cannot be used due to its side effects. Like all other biologics, hypersensitivity reactions to anakinra are quite rare. This is the first case which was successfully desensitized with anakinra after a severe immediate-type hypersensitivity reaction.
November 22, 2017: European Annals of Allergy and Clinical Immunology
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