4,109 results match your criteria Mediterranean Fever Familial
Medicine (Baltimore) 2018 Sep;97(38):e12305
Department of Immunology and Rheumatology, Unit of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki.
Rationale: Because most patients with familial Mediterranean fever (FMF) have attacks without any prodromal symptoms, and since it is suggested that patients with FMF have subclinical inflammation even during remission, a daily continuous administration of colchicine is recommended for patients with FMF even during remission. However, it is possible that intermittent colchicine therapy only during FMF attacks prevents the attacks completely in patients with FMF with expectable attacks.
Patient Concerns: A 31-year-old Japanese woman suffered high fever and arthralgia lasting for 2 to 3 days after each menstrual period's start. Read More
Arch Argent Pediatr 2018 Oct;116(5):e649-e654
Ministry of Health Izmir Tepecik Training and Research. Hospital, Pediatric Immunology and Rheumatology Unit, Turkey.
Orphanet J Rare Dis 2018 Sep 6;13(1):156. Epub 2018 Sep 6.
Autoinflammatory Alliance, San Francisco, CA, USA.
Background: Limited data are available on the experiences of patients with autoinflammatory diseases (AIDs) and their families along the path to diagnosis and treatment. We sought to describe these experiences in patients with AIDs including tumor necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency/hyperimmunoglobulin D syndrome (MKD/HIDS), and familial Mediterranean fever (FMF).
Methods: Ninety-minute, semi-structured qualitative interviews and 5-day written/video diaries were used to gather information on the experiences of patients with AIDs and their families. Read More
Harefuah 2018 Aug;157(8):538
Kaplan Medical Center, Rehovot, Israel.
Eur J Med Genet 2018 Aug 29. Epub 2018 Aug 29.
Department of Medicine F, The Chaim Sheba Medical Center, Tel-Hashomer, 5265601, Israel; Rheumatology Unit, The Chaim Sheba Medical Center, Tel-Hashomer, 5265601, Israel; Heller Institute of Medical Research, The Chaim Sheba Medical Center, Tel-Hashomer, 5265601, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Israel. Electronic address:
The clinical presentation of familial Mediterranean fever (FMF) is remarkably variable, ranging from a quiescent to a severe and disabling disease. The M694V mutation is one of approximately 300 published genetic variations in the FMF gene. While some studies have reported a more severe phenotype for the homozygous M694V mutation, studies dedicated solely to featuring the phenotype of homozygous M694V genotype are meager. Read More
Bratisl Lek Listy 2018 ;119(8):490-493
Introduction: Pentraxin-3 (PTX-3) is a prototype of pentraxin proteins that have been shown to be involved in acute phase response. In this study, we aimed to investigate the relationship between PTX-3 levels and familial Mediterranean fever (FMF) disease, and to evaluate PTX-3 as a novel diagnostic marker of FMF.
Method: Forty-three male patients diagnosed with FMF and 42 healthy individuals were included in the study. Read More
Bratisl Lek Listy 2018 ;119(7):425-428
Objectives And Background: Familial Mediterranean Fever (FMF) is characterized by recurrent fever episodes as a result of inflammation of serous membranes. Changes in the number of different mtDNA copy number variations, detected in FMF patients, who developed amyloidosis, might be an important parameter in the understanding of the pathophysiology of the disease.
Methods: Changes in the mtDNA copy number between 50 patients with FMF, who had M694V homozygote mutation and amyloidosis, and 50 healthy controls, who had not any MEFV mutation or FMF clinical finding, were examined. Read More
Mol Biol (Mosk) 2018 Jul-Aug;52(4):699-704
Russian-Armenian University, Yerevan, 0051 Armenia.
Cytostatic colchicine is widely used in the treatment of Familial Mediterranean fever, but it has several side effects. For finding new, more effective drugs with higher affinity and diminishside effects we carried out virtual screening of potential inhibitors of the main target of colchicine, the polymerization of tubulin by evaluating affinity 25745 compounds, structurally related to the colchicine. We have identified 11 commercially available compounds with higher affinity to tubulin. Read More
Ann Rheum Dis 2018 Aug 12. Epub 2018 Aug 12.
Clinica Pediatrica e Reumatologia-PRINTO, Istituto Giannina Gaslini, Genoa, Italy.
Autoinflammatory diseases (AIDs) are a relatively new family of disorders, defined about 19 years ago. Some of them are hereditary and some are not. The names given to these diseases do not follow any systematic guidelines, and sometimes the same disorder carries several names. Read More
Rheumatol Int 2018 Oct 11;38(10):1833-1840. Epub 2018 Aug 11.
Vasculitis and Lupus Clinic, Addenbrooke's Hospital, University of Cambridge, Cambridge, UK.
There is a need for better definition of polyarteritis nodosa (PAN) subphenotypes and the influence of ethnicity and geography. This study is aimed to study the demographic and clinical features of PAN cohorts from the UK and Turkey (TR) and to compare and contrast disease characteristics. A retrospective survey of databases from two vasculitis centres between 1990 and 2016 for PAN patients fulfilling the EMEA Vasculitis Classification algorithm. Read More
Orphanet J Rare Dis 2018 Aug 9;13(1):132. Epub 2018 Aug 9.
CEREMAIA, departement of pediatrics, Versailles hospital, Versailles Le Chenay, France.
Background: Conventionally, PFAPA syndrome is considered as a benign disease compared to other recurrent fevers because it completely passes before adulthood. However, in our clinical practice, fever episodes have a huge impact on daily activities.
Methods: Observational cohort study using the Pediatric Quality of Life Inventory (PedsQL™ 4. Read More
Rheumatol Int 2018 Aug 7. Epub 2018 Aug 7.
Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, 06100, Ankara, Turkey.
Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease in the world. The disease characteristics may vary in different age groups. In this study, we aimed to compare disease characteristics and treatment compliance according to the age of pediatric FMF patients. Read More
Rheumatology (Oxford) 2018 Aug 2. Epub 2018 Aug 2.
Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
Objectives: FMF is the most frequent monogenic auto-inflammatory disease worldwide. There have been hardly any cases reported in the Chinese population. We aimed to describe the first cohort of adult FMF patients in China. Read More
Turk Pediatri Ars 2018 Mar 1;53(1):31-36. Epub 2018 Mar 1.
Istanbul University, Cerrahpaşa Medical Faculty, Department of Pediatrics, Division of Pediatric Rheumatology, Istanbul, Turkey.
Aim: Familial Mediterranean fever is an inherited condition that is more prevalent in some regions of Turkey. Juvenile idiopathic arthritis is the most common chronic arthritis of childhood. There is lack of studies on the frequency of mentioned conditions across different regions of Turkey. Read More
Ann Rheum Dis 2018 Aug 4. Epub 2018 Aug 4.
Department of Paediatrics, Universitair Medisch Centrum Utrecht-Locatie Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
Introduction: Autoinflammatory diseases can cause irreversible tissue damage due to systemic inflammation. Recently, the Autoinflammatory Disease Damage Index (ADDI) was developed. The ADDI is the first instrument to quantify damage in familial Mediterranean fever, cryopyrin-associated periodic syndromes, mevalonate kinase deficiency and tumour necrosis factor receptor-associated periodic syndrome. Read More
Eur J Rheumatol 2018 Jul 20:1-3. Epub 2018 Jul 20.
Division of Rheumatology, Department of Internal Medicine, Health Sciences University Gülhane School of Medicine, Ankara, Turkey.
There is no established treatment protocol for amyloid-A (AA) amyloidosis secondary to Familial Mediterranean Fever (FMF). Recently, we reported the efficacy of tocilizumab in 11 amyloidosis cases associated with FMF. In 2 patients of 11, we discontinued the tocilizumab administeration owing to the normalization of amyloidosis-related symptoms, but proteinuria re-occurred eventually. Read More
Clin Rheumatol 2018 Jul 30. Epub 2018 Jul 30.
Department of Internal Medicine, Division of Rheumatology, Gazi University Faculty of Medicine, 06100, Ankara, Yenimahalle, Turkey.
To evaluate the efficacy of on-demand use of anakinra in patients with crFMF. The Gazi FMF cohort was established in the year 2010, and from that date, 689 patients with FMF diagnosed according to the Tel Hashomer criteria were registered. Attack type, duration, severity, and their impact on life were collected either by disease diaries or a mobile phone application (FMF AIDD, AppStore, and Playstore). Read More
J Clin Rheumatol 2018 07 25. Epub 2018 Jul 25.
Division of Rheumatology, Department of Internal Medicine, Gazi University Faculty of Medicine, Ankara.
Objective: We aimed to present our single-center real-life experience of canakinumab use in adult patients with familial Mediterranean fever (FMF).
Methods: Data were derived from the Gazi FMF cohort, which was established in 2010. From that year, all patients with FMF were registered. Read More
Arq Gastroenterol 2018 Apr-Jun;55(2):175-178
Istanbul University, Cerrahpasa Medical School, Pediatric Rheumatology, Turkey.
Background: Familial Mediterranean fever and celiac disease share some common clinical features such as abdominal pain, diarrhea, arthralgia and arthritis. Also, both of the diseases are associated with many inflammatory and autoimmune diseases. Previous studies have shown the association between familial Mediterranean fever (FMF) and different clinical conditions. Read More
Ann Rheum Dis 2018 Jul 20. Epub 2018 Jul 20.
Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Plateforme GENOMAX, LabEx TRANSPLANTEX, Faculté de Médecine, Université de Strasbourg, Strasbourg, France.
Objectives: The objective of the present study was to explain why two siblings carrying both the same homozygous pathogenic mutation for the autoinflammatory disease hyper IgD syndrome, show opposite phenotypes, that is, the first being asymptomatic, the second presenting all classical characteristics of the disease.
Methods: Where single omics (mainly exome) analysis fails to identify culprit genes/mutations in human complex diseases, multiomics analyses may provide solutions, although this has been seldom used in a clinical setting. Here we combine exome, transcriptome and proteome analyses to decipher at a molecular level, the phenotypic differences between the two siblings. Read More
Rheumatol Int 2018 Jul 17. Epub 2018 Jul 17.
Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
Autoinflammatory diseases are characterized by fever attacks of varying durations, associated with variety of symptoms including abdominal pain, lymphadenopathy, polyserositis, arthritis, etc. Despite the diversity of the clinical presentation, there are some common features that make the differential diagnosis of the autoinflammatory diseases challenging. Familial Mediterranean fever (FMF) is the most commonly seen autoinflammatory conditions, followed by syndrome associated with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA). Read More
Clin Rheumatol 2018 Jul 17. Epub 2018 Jul 17.
Department of Pediatrics and Pediatric Rheumatology, Cairo University, Giza, Egypt.
Familial Mediterranean fever (FMF) is an autoinflammatory disorder. It is caused by mutations in the MEFV gene encoding the pyrin protein, which regulates the innate inflammatory response. The aim of the current study was to investigate the relationship between serum Interleukin-4 (IL-4) and its gene polymorphism, namely rs79071878, and FMF occurrence, severity, and response to treatment in Egyptian children harboring the disease. Read More
Mod Rheumatol 2018 Jul 14:1-11. Epub 2018 Jul 14.
a Ankara University School of Medicine, Department of Pediatric Rheumatology , Ankara , Turkey.
Objectives: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by recurrent, self limited attacks of fever with serositis. Recently, it was shown that FMF patients with early disease onset have more severe disease. The aim of this study was to describe the demographic, clinical and genetic features of FMF patients who had disease onset during the neonatal period. Read More
Front Immunol 2018 26;9:1426. Epub 2018 Jun 26.
Health Promoting Naturals Laboratory, School of Environmental and Biological Sciences, Rutgers State University, New Brunswick, NJ, United States.
Intestinal microorganisms play a crucial role in health and disease. The disruption of host-microbiota homeostasis has been reported to occur not only during disease development but also as a result of medication. Familial Mediterranean fever (FMF) is an inflammatory genetic disease characterized by elevated systemic reactivity against the commensal gut microbiota and high levels of in the gut. Read More
Clin Transplant 2018 Aug 22;32(8):e13345. Epub 2018 Jul 22.
Division of Nephrology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
Background: Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent serosal inflammation with fever, which can result in amyloid deposition. Anti-interleukin-1 drugs emerge as a therapeutic option for colchicine-resistant patients. In this study, we aimed to document our experience with canakinumab use in kidney transplant recipients who developed AA amyloidosis due to FMF. Read More
Genes Immun 2018 Jul 6. Epub 2018 Jul 6.
Department of Critical Care Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Post-hoc subgroup analysis of the negative trial of interleukin-1β receptor antagonist (IL1RA) for septic shock suggested that patients with features of macrophage activation syndrome (MAS) experienced a 50% relative risk reduction for mortality with treatment. Here we seek a genetic basis for this differential response. From 1341 patients enrolled in the ProCESS trial of early goal directed therapy for septic shock, we selected 6 patients with MAS features and the highest ferritin, for whole exome sequencing (mean 24,030. Read More
Drugs 2018 Jul;78(11):1073-1083
Division of Nephrology, Department of Medicine, Koc University School of Medicine, Istanbul, Turkey.
Interleukin (IL)-1α and IL-1β are proinflammatory cytokines that play a role in many diseases such as rheumatoid arthritis, juvenile rheumatoid arthritis, gout, and periodic inflammatory syndromes, including familial Mediterranean fever and Muckle-Wells syndrome. Drugs targeting IL-1 such as recombinant IL-1Ra (anakinra), neutralizing anti-IL-1β antibodies (canakinumab) and IL-1β traps (rilonacept) are in clinical use to treat these diseases. Additionally, experimental evidence suggests a role of IL-1 in kidney disease and hypertension and targeting IL-1 showed promising results in high cardiovascular risk patients, hemodialysis and renal transplantation patients. Read More
Transpl Int 2018 Oct 13;31(10):1181-1184. Epub 2018 Jul 13.
Department of Pediatrics, Division of Pediatric Rheumatology & Nephrology, Ankara University School of Medicine, Ankara, Turkey.
Curr Opin Rheumatol 2018 Sep;30(5):506-513
Division of Rheumatology, Departments of Pediatrics and Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Purpose Of Review: This review aims at summarizing the current knowledge of A20 haploinsufficiency and other paediatric inflammatory disorders with mucosal involvement.
Recent Findings: A20 haploinsufficiency is a newly described autoinflammatory disease caused by loss-of-function mutations in TNFAIP3 that result in the activation of the nuclear factor (NF)-kB pathway. Patients may present with dominantly inherited, early-onset systemic inflammation and a Behçet-like disease, or a variety of autoinflammatory and autoimmune features. Read More
BMJ Case Rep 2018 Jun 15;2018. Epub 2018 Jun 15.
Department of Neurology, Juntendo University Faculty of Medicine, Tokyo, Japan.
A 42-year-old Japanese man with a history of small intestine resection and familial Mediterranean fever was referred to our hospital for a second opinion on parkinsonism. At the age of 35, the patient attended a hospital due to impaired left-hand movement and resting tremor. He was previously diagnosed with multiple system atrophy based on the lack of effectiveness of levodopa treatment. Read More
Iran J Kidney Dis 2018 05;12(3):150-155
Department of Medical Genetic, Faculty of Medicine, Hitit University, Corum, Turkey.
Introduction: The most important complication of familial Mediterranean fever (FMF) is secondary amyloidosis, which can lead to kidney failure. Genetic variability in the genes of various components of the renin-angiotensin system may play a role in the pathogenesis of the kidney disorders. The aim of the present study was to investigate the association between angiotensin converting enzyme (ACE) gene I/D variant and risk of developing FMF-related amyloidosis in Turkish patients. Read More
Balkan J Med Genet 2017 Dec 29;20(2):51-58. Epub 2017 Dec 29.
Department of Gastroenterology, Cumhuriyet University, Faculty of Medicine, Sivas, Turkey.
Atypical clinical forms of familial Mediterranean fever (FMF) can be misdiagnosed as therapy-resistant epigastric pain syndrome (EPS) for they share many of the same clinical features, such as abdominal pain. Thus, we aimed to determined the frequency of FMF in patients who were followed with a diagnosis of therapy-resistant EPS. Seventy-five patients with therapy-resistant EPS and 20 controls were involved in the study. Read More
Biomark Med 2018 Jun 6;12(6):565-572. Epub 2018 Jun 6.
Division of Rheumatology, Department of Internal Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Aim/purpose: Our aim was to investigate the association between blood groups and colchicine resistance in familial Mediterranean fever (FMF) patients.
Methods: This is a single-center, cross-sectional study. Between January and December 2016, 385 FMF patients were assessed by the Adult and Pediatric Rheumatology outpatient clinics and 297 patients had blood groups (ABO and Rh) results. Read More
Ugeskr Laeger 2018 May;180(22)
Periodic fever syndromes (PFS) are characterised by recurrent fever and excessive systemic inflammation. These rare and hereditary syndromes include familial Mediterranean fever, tumour necrosis factor receptor-1 associated periodic syndrome, mevalonate kinase deficiency and cryopyrin-associated periodic syndrome. Each PFS has distinct clinical and genetic features. Read More
Case Rep Rheumatol 2018 1;2018:9670801. Epub 2018 Apr 1.
Human Oncology & Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Familial Mediterranean fever (FMF) is an inherited disease caused by loss of function mutations in the gene encoding pyrin, a negative regulator of interleukin-1. The disease is characterized by recurrent fever and self-limited attacks of joint, chest, and abdominal pain but lymphadenopathy is an infrequent manifestation. While mesenteric lymphadenopathy has been described in several cases in the literature; hilar, paratracheal, axillary, pelvic, and retroperitoneal lymphadenopathy are extremely rare and have been reported separately in very few individuals. Read More
J Exp Med 2018 Jun 23;215(6):1519-1529. Epub 2018 May 23.
Center for Inflammation Research, Vlaams Instituut voor Biotechnologie, Ghent, Belgium
Pyroptosis is an inflammasome-induced lytic cell death mode, the physiological role of which in chronic inflammatory diseases is unknown. Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease worldwide, affecting an estimated 150,000 patients. The disease is caused by missense mutations in that activate the Pyrin inflammasome, but the pathophysiologic mechanisms driving autoinflammation in FMF are incompletely understood. Read More
PLoS One 2018 22;13(5):e0197829. Epub 2018 May 22.
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Objectives: Although Familial Mediterranean fever (FMF) is categorized as autosomal recessive, frequent exceptions to this model exist and therefore we aimed to search epigenetic modifications in this disease.
Methods: Ten M694V homozygous FMF patients (the most severe phenotype) were recruited for this study. Patients with inflammatory flare were excluded. Read More
Intern Med 2018 May 18. Epub 2018 May 18.
Department of Hematology and Oncology, Kyoto University Hospital, Japan.
Familial Mediterranean fever (FMF), the most common autoinflammatory disorder, is characterized by recurrent febrile attacks and polyserositis. FMF is caused by mutations in MEFV, which encodes pyrin. In this report, we present an atypical FMF case with E148Q/L110P mutations in MEFV. Read More
Amyloid 2018 May 18:1-5. Epub 2018 May 18.
a Department of Nephrology , Ankara University School of Medicine , Ankara , Turkey.
Objective: In epidemiological studies of amyloid A (AA) amyloidosis from Turkey, the most frequently cause was familial Mediterranean fever (FMF) and it occurs generally in young age population. However, there are no sufficient data regarding aetiology, clinical presentation and prognosis of renal AA amyloidosis in advanced age patients. In this study, we aimed to investigate demographic, clinical presentation, aetiology and outcomes of adults aged 60 years or older patients with biopsy-proven renal AA amyloidosis. Read More
Best Pract Res Clin Rheumatol 2017 Aug 11;31(4):596-609. Epub 2018 Jan 11.
National Amyloidosis Centre and Centre for Acute Phase Proteins, Division of Medicine, University College London, Royal Free Campus, Rowland Hill Street, London, NW3 2PF, UK. Electronic address:
Periodic fever syndromes are autoinflammatory diseases. The majority present in infancy or childhood and are characterised by recurrent episodes of fever and systemic inflammation that occur in the absence of autoantibody production or identifiable infection. The best recognised disorders include CAPS, FMF, TRAPS and MKD. Read More
J Med Case Rep 2018 May 18;12(1):130. Epub 2018 May 18.
Department of Gastroenterology, "Armenia" Republican Medical Center, Yerevan, Armenia.
Background: Familial Mediterranean fever is an autosomal recessive disorder characterized by periodic febrile attacks of aseptic serositis and/or arthritis. The main treatment is colchicine which prevents attacks in the majority of patients except for a group of colchicine-resistant cases. Chronic hepatitis C is a viral infection causing chronic inflammation of liver tissue (hepatitis) which ultimately progresses to fibrosis and liver cirrhosis with a high chance of hepatocellular carcinoma. Read More
N Engl J Med 2018 05;378(20):1908-1919
From the Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, Rome (F.D.B.), Clinica Pediatrica e Reumatologia, Unità Operativa Semplice Dipartimentale di Malattie Autoinfiammatorie e Immunodeficienze, IRCCS, Istituto G. Gaslini, Genoa (M.G.), the Pediatric Clinic, University of Brescia and Spedali Civili, Brescia (M.C.), and the Amyloidosis Research and Treatment Center, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia (L.O.) - all in Italy; the Division of Pediatric Rheumatology, Hospital Sant Joan de Déu, Universitat de Barcelona (J.A.), and the Internal Medicine Department, Autoimmune and Systemic Diseases Unit, Hospital Vall d'Hebron (S.B.-R.), Barcelona, and the Pediatric Rheumatology Unit, Hospital Universitario y Politécnico La Fe, Valencia (I.C.P.) - all in Spain; the Rheumatology Unit, Hadassah-Hebrew University Hospital (E.B.-C.), and the Pediatric Rheumatology Unit, Shaare Zedek Medical Center (P.J.H.), Jerusalem, and Heller Institute of Medical Research and Medicine Faculty, Sheba Medical Center, Tel-Hashomer and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv (A.L.) - all in Israel; the Division of Pediatrics, University Medical Center Utrecht, Utrecht (J.F.), and the Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen (A. Simon) - both in the Netherlands; the Departments of Pediatrics and Medicine, University of California at San Diego and Rady Children's Hospital San Diego, San Diego (H.M.H.); the Department of Pediatric Rheumatology, Centre de Référence des Maladies Auto-inflammatoires et de l'Amylose Inflammatoire, Centre Hospitalier Universitaire (CHU) de Bicêtre, Assistance Publique-Hopitaux de Paris (APHP), Université de Paris Sud (I.K.-P.), and Paris-Descartes University, Imagine Institute, Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Necker-Enfants Malades, APHP (P.Q.), Paris; the National Amyloidosis Centre, University College London Division of Medicine, Royal Free Campus (H.J.L.), and University College London, Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust (P.B.), London; the Department of Pediatrics, Hacettepe University, Ankara (S.O.), and the Department of Pediatric Rheumatology, Cerrahpasa Medical School (O.K.), and Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology (A.G.), Istanbul University, Istanbul - all in Turkey; the Department of Pediatrics, Division of Pediatric Rheumatology, Cleveland Clinic, Cleveland (A.Z.); the Department of Infectious Diseases and General Internal Medicine, CHU Sart-Tilman, University of Liège, Liege (M.M.), and the Department of Infectious Diseases and Immunity, Jessa Hospital, University of Hasselt, Hasselt (J.V.H.) - both in Belgium; the Department of Clinical Immunology, Center for Pediatric Hematology, Oncology, and Immunology, Moscow (A. Shcherbina); Pediatric Rheumatology of Western Switzerland, University of Lausanne, Lausanne, (M.H.), and Novartis, Basel (K.L., A. Speziale, G.J.) - both in Switzerland; the Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan (R.H.); and the Department of Pediatrics, Semmelweis Egyetem, Budapest, Hungary (T.C.).
Background: Familial Mediterranean fever, mevalonate kinase deficiency (also known as the hyperimmunoglobulinemia D syndrome), and the tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are monogenic autoinflammatory diseases characterized by recurrent fever flares.
Methods: We randomly assigned patients with genetically confirmed colchicine-resistant familial Mediterranean fever, mevalonate kinase deficiency, or TRAPS at the time of a flare to receive 150 mg of canakinumab subcutaneously or placebo every 4 weeks. Patients who did not have a resolution of their flare received an add-on injection of 150 mg of canakinumab. Read More
Cell Biol Int 2018 Aug 19;42(8):1079-1084. Epub 2018 Jun 19.
Department of Anatomy and Cell Biology, Medical University, BG-9002 Varna, Bulgaria.
Colchicum autumnale, from which colchicine has been isolated more than 100 years ago, has been used as a treatment for pain and swelling for thousands of years. It is one of the few drugs known from that time period whose use has survived to modernity. Over the past decades, advances in the knowledge of (i) cytoskeletal microtubules (МТ), and (ii) anti-inflammatory and anti-fibrotic effects of colchicine, a classical MT-disassembling (tubulin-targeting) agent, have led to potential new uses for this very old drug extended beyond acute gouty arthritis and familial Mediterranean fever. Read More
J Periodontol 2018 Sep 13;89(9):1112-1120. Epub 2018 Aug 13.
Department of Biostatistics and Medical Informatics, Faculty of Medicine, University of Süleyman Demirel, Isparta, Turkey.
Background: Familial Mediterranean fever (FMF) is an inherent autoinflammatory disease and have a high prevalence in Mediterranean countries. The aim of this study was to evaluate salivary levels of oxidative stress parameters in patients with FMF and chronic periodontitis.
Methods: The study population consists of 81 patients with FMF and 85 systemically healthy controls. Read More
Arch Argent Pediatr 2018 06;116(3):e385-e391
University Of Health Sciences,Bagcılar Training and Research, Hospital, Istanbul, Turkey.
Objective: To determine the frequency of the MEFV gene mutations in pediatric patients diagnosed with HSP and to assess the effect of the MEFV gene mutations on their prognosis. Material and Methods. Ccross-sectional study; pediatric patients between 2-11 years diagnosed with HSP were included. Read More
Clin Exp Rheumatol 2018 Jan-Feb;36 Suppl 110(1):39-43. Epub 2018 May 3.
Emergency Department, ASST-Fatebenefratelli Sacco University Hospital, Milan, Italy.
Autoinflammatory diseases (AIDs) usually present with acute abdominal pain and fever, both of which are also the main causes of referral in the emergency department. As some patients with acute abdominal pain may be discharged from the emergency department without a definitive diagnosis, it is not surprising that, due to their rarity, most cases of AID remain undiagnosed or are misdiagnosed as acute appendicitis. Indeed, the diagnosis of familial Mediterranean fever and autoinflammatory syndromes requires a high index of suspicion and careful assessment of clinical history. Read More
J Clin Med 2018 May 7;7(5). Epub 2018 May 7.
Department of Medical Genetics, Faculty of Medicine, University of Harran, 63000 Sanliurfa, Turkey.
Background: Familial Mediterranean Fever (FMF) is a genetic disorder characterized by recurrent episodes of fever and abdominal pain. Mutations in the Mediterranean fever (MEFV) gene are localized on the p arm of chromosome 16. Over 333 MEFV sequence variants have been identified so far in FMF patients, which occur mostly in the 2nd and 10th exons of the gene. Read More
Int Ophthalmol 2018 Apr 30. Epub 2018 Apr 30.
Department of Ophthalmology, Kaplan Medical Center, Rehovot, Israel.
Purpose: To report a rare case of spontaneous corneal perforation after hydrops in keratoconus patients who suffer from familial Mediterranean fever and was treated systemically with Colchicine.
Methods: Case report.
Results: We report a case of a 30-year-old male with keratoconus and familial Mediterranean fever treated with colchicine, presented with acute hydrops in his left eye, which progressed to a spontaneous corneal perforation. Read More
Prenat Diagn 2018 Apr 23. Epub 2018 Apr 23.
University of Miami Miller School of Medicine, Miami, FL, USA.
Objectives: Expanded carrier testing is acknowledged as an acceptable strategy for carrier testing by the American College of Obstetrics and Gynecology. Limited studies have investigated positivity rates of expanded carrier panels. We describe our experience with 3 commercial laboratory panels varying in size from 3 to 218 disorders. Read More