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Front Immunol 2020 13;11:889. Epub 2020 May 13.

Department of Internal Medicine, Rare Diseases and Periodic Fevers Research Centre, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

A 65-year-old Italian physician affected by Familial Mediterranean fever (FMF) was hospitalized due to progressive abdominal enlargement, which had begun 6 months before admission. Physical examination revealed ascites and bilateral leg edema. Abdominal CT scan showed ascitic fluid and extensive multiple peritoneal implants; peritoneal CT-guided biopsy revealed an epithelial-type malignant mesothelioma. Read More

Reumatologia 2020 30;58(2):81-86. Epub 2020 Apr 30.

Department of Pediatric Gastroenterology, Cukurova University Faculty of Medicine, Adana, Turkey.

Objectives: Familial Mediterranean fever (FMF) is characterized by recurrent, self-limiting attacks of fever and serositis. Nutrition is very important in the management of chronic diseases. Previous studies suggested that salty and fatty diet cause inflammation, therefore we aimed to investigate the effects of dietary self-efficacy and behavior about low-salt or low-fat diet on disease course in children with FMF. Read More

Intern Med 2020 1;59(11):1373-1378. Epub 2020 Jun 1.

Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan.

Objective Familial Mediterranean Fever (FMF) is the most frequent autoinflammatory syndrome, and its frequency is reported to be increasing in Japan. We studied the clinical features and genetic background of patients with FMF in our hospital. Methods We analyzed the clinical features and genomic variants of MEFV, as well as 10 genes related to other autoinflammatory syndromes, in 22 Japanese patients with FMF. Read More

Mod Rheumatol 2020 May 30:1-20. Epub 2020 May 30.

Physical Medicine and Rehabilitation (PMR) Department, Rheumatology Division, Marmara University, School of Medicine, Istanbul, Turkey.

Objective: To develop a valid and reliable quality of life (QoL) scale in familial Mediterranean fever (FMF).

Methods: After producing question pool by using psychometric methods, high performance questions were obtained according to expert panel. The Principal Component Analysis (PCA) was done with varimax rotation for factor analysis. Read More

Turk J Pediatr 2020 ;62(2):175-181

Divisions of Pediatric Rheumatology, Gazi University Faculty of Medicine, Ankara, Turkey.

Background And Objectives: Familial Mediterranean fever (FMF) is an autosomal-recessive auto-inflammatory disorder characterized by recurrent episodes of fever with serositis. Sacroiliitis associated with FMF is very rare, especially in children. We aimed to describe the demographic, clinical, laboratory features, and treatment responses of pediatric patients with FMF -related sacroiliitis. Read More

Turk J Pediatr 2020 ;62(2):167-174

Clinic of Pediatric Rheumatology, Kanuni Sultan Süleyman Research and Training Hospital, İstanbul, Turkey.

Background And Objectives: The aim of this observational retrospective cohort study was to demonstrate indications and response rates of the patients with pediatric rheumatic diseases that used canakinumab.

Method: The files of the patients that used canakinumab between December 2012 and July 2017 were reviewed. Canakinumab was used in 29 patients. Read More

J Pediatr 2020 May 13. Epub 2020 May 13.

Division of Pediatric Rheumatology, Department of Pediatrics, Ankara, Turkey. Electronic address:

Colchicine is the mainstay of treatment for familial Mediterranean fever. We investigated the frequency of leukopenia in 213 patients with familial Mediterranean fever treated with standard doses of colchicine (0.5-2. Read More

Ann Hum Genet 2020 May 13. Epub 2020 May 13.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Background: Familial Mediterranean fever is a hereditary inflammatory disorder caused by variants in MEFV. c.2230G>T p. Read More

Pediatr Rheumatol Online J 2020 May 12;18(1):38. Epub 2020 May 12.

Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No 1, Shuaifuyuan, Dongcheng District, Beijing, 100730, China.

Background: Systemic juvenile idiopathic arthritis (sJIA) has many clinical features overlapping with familial Mediterranean fever (FMF), which is caused by mutations in MEFV gene. And FMF patients were easily misdiagnosed as sJIA in China. So we speculate that MEFV is critical genetic background for sJIA and influences patients' severity. Read More

Saudi J Kidney Dis Transpl 2020 Mar-Apr;31(2):537-541

Department of Nephrology, Ankara Numune Education and Research Hospital, Ankara, Turkey.

Familial Mediterranean fever (FMF) is an autosomal recessive disease charac-terized by recurrent fever episodes and polyserositis. The most important complication is amyloidosis. Nonamyloidotic nephropathy in FMF is poorly documented. Read More

Ophthalmic Genet 2020 May 6:1-6. Epub 2020 May 6.

Department of Ophthalmology, University of Health Sciences,Ankara Numune Training and Research Hospital, Ankara, Turkey.

Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease with accompanying findings of amyloidosis and vasculitis. M694V is one of the most common mutations associated with amyloidosis. This study compared the macular optical coherence tomography angiography measurements in FMF patients who were genetically verified to carry the M694V mutation of the MEFV gene to those in healthy controls. Read More

Allergol Immunopathol (Madr) 2020 Apr 28. Epub 2020 Apr 28.

Department of Genetic Diseases, Duzen Laboratories Group, Ankara, Turkey.

Background: Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease and is characterized by self-limiting episodes of fever and polyserositis. The aim of this study was to determine the atopic clinical findings associated with the MEFV gene.

Methods: A retrospective chart review was conducted of pediatric patients who had received a diagnosis of familial Mediterranean fever between August 2015 and November 2018. Read More

Am J Cardiovasc Drugs 2020 Apr 30. Epub 2020 Apr 30.

Gill Heart and Vascular Institute, University of Kentucky, 326 Wethington Building, 900 South Limestone Street, Lexington, KY, 40536-0200, USA.

Inflammation as a cardiovascular risk factor has attracted increasing attention . The current standard of care for decreasing the occurrence of cardiovascular events includes controlling risk factors such as hypertension and maximizing the lowering of low-density lipoprotein cholesterol (LDL-C). However, a recent study demonstrated decreased cardiovascular risk with the anti-inflammatory agent canakinumab and created more interest in decreasing cardiovascular risk by decreasing inflammation. Read More

Eur Ann Allergy Clin Immunol 2020 04 30. Epub 2020 Apr 30.

Department of Pediatrics, Division of Pediatric Immunology, Hacettepe University Medical School, Ankara, Turkey.

Summary: Hereditary angioedema (HAE) is a primary complement factor deficiency, characterized by recurrent submucosal/subcutaneous swelling episodes. SERPING1 gene defects encoding C1 esterase inhibitor (C1INH) are responsible from the disease. Fifteen patients with HAE are retrospectively evaluated in this study. Read More

Rheumatol Int 2020 Apr 28. Epub 2020 Apr 28.

Department of Pediatric Rheumatology, University of Health Sciences, Kanuni Sultan Süleyman Research and Training Hospital, Istanbul, Turkey.

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease manifesting with phenotypic heterogeneity. The phenotype-genotype correlation is not established clearly yet. Furthermore, some comorbidities such as vasculitis and inflammatory arthritis may accompany FMF. Read More

Balkan Med J 2020 Apr 27. Epub 2020 Apr 27.

Department of Pediatric Rheumatology, İstanbul University-Cerrahpaşa Cerrahpaşa School of Medicine, İstanbul, Turkey.

Autoinflammatory diseases are characterized by recurrent fever attacks and clinical findings that arise from impaired natural immunity and spread to a wide variety of organ systems. The concept of autoinflammatory disease emerged after the definition of familial Mediterranean fever (FMF) and Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS). Firstly, it is thought that this new group differs from the standard concept of autoimmune diseases, which is relatively better known in terms of basic features such as defects in innate immunity and the absence of antibodies. Read More

Immunol Invest 2020 Apr 22:1-9. Epub 2020 Apr 22.

Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul-Cerrahpasa, Istanbul, Turkey.

: Triggering Receptor Expressed on Myeloid cells-1 (TREM-1) is a monocyte and neutrophil receptor functioning in innate immunity. TREM-1 activity has been studied in various autoimmune diseases such as RA and SLE but there is no data in autoinflammatory pathologies. We studied soluble TREM-1 (sTREM-1) activity in Familial Mediterranean Fever (FMF) cases to evaluate the clinical role of TREM-1 in amyloidosis. Read More

Nutrients 2020 Apr 17;12(4). Epub 2020 Apr 17.

Institute of Translational Immunology and Research Center for Immunotherapy, University Medical Center, Johannes Gutenberg University, 55122 Mainz, Germany.

We have identified a clinical association between self-reported non-celiac wheat sensitivity (NCWS) and Familial Mediterranean Fever (FMF). Objectives: A) To determine whether a 2-week double-blind placebo-controlled (DBPC) cross-over wheat vs. rice challenge exacerbates the clinical manifestations of FMF; B) to evaluate innate immune responses in NCWS/FMF patients challenged with wheat vs. Read More

Ann Rheum Dis 2020 Apr 20. Epub 2020 Apr 20.

VIB Center for Inflammation Research, Zwijnaarde, Belgium

Background And Objective: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) worldwide. The disease is caused by mutations in the gene encoding the inflammasome sensor Pyrin. Clinical diagnosis of FMF is complicated by overlap in symptoms with other diseases, and interpretation of genetic testing is confounded by the lack of a clear genotype-phenotype association for most of the 340 reported variants. Read More

Hautarzt 2020 May;71(5):342-358

Klinik für Pädiatrie m. S. Pneumologie & Immunologie/SPZ Kinderrheumatologie, Charité Universitätsmedizin, Augustenburger Platz 1, 13353, Berlin, Deutschland.

Systemic autoinflammatory diseases are characterized by a spontaneous chronic inflammatory reaction mediated by the innate immunity. The inflammatory processes involve many organs including the skin. Diagnosis remains a challenge despite new molecular genetic methods, but early diagnosis is crucial for the prevention of long-term complications such as amyloidosis. Read More

Clin Exp Immunol 2020 Apr 11. Epub 2020 Apr 11.

Department of Medical Oncology, Haematology, Clinical Immunology and Rheumatology, University Hospital Tübingen, Tübingen, Germany.

Dendritic cells (DCs) are sentinels of the immune system that bridge innate and adaptive immunity. By capturing antigens in peripheral tissue, processing and presenting them with concurrent expression of co-stimulatory molecules and cytokine secretion they control and modulate immune reactions. Through pattern recognition receptors, DCs sense molecules that are associated with infection or tissue damage, frequently resulting in the formation of inflammasomes upon intracellular stimulation. Read More

Drug Saf 2020 Apr 9. Epub 2020 Apr 9.

Department of Pharmacotherapy, College of Pharmacy, University of Utah, Salt Lake City, Utah, USA.

Introduction: Colchicine is currently approved for the treatment of gout and familial Mediterranean fever, among other conditions. Clarithromycin, a strong inhibitor of CYP3A4 and P-glycoprotein, dramatically increases colchicine's half-life, augmenting the risk of a life-threatening adverse reaction when used inadvertently with colchicine.

Objectives: The aim of this study was to examine the evidence and clinical implications of concomitant use of colchicine and clarithromycin. Read More

J Obstet Gynaecol 2020 Apr 9:1-4. Epub 2020 Apr 9.

Department of Maternal-Fetal Medicine Unit, University of Health Sciences, Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara, Turkey.

We aimed to investigate whether proteinuria in the first trimester of pregnancy in Familial Mediterranean fever (FMF) patients has an impact on pregnancy outcome and perinatal and neonatal outcome of pregnancies. A total of 66 pregnant with FMF were compared with healthy controls at the same gestational weeks. Patients with FMF had a higher antenatal hospitalisation rate (34. Read More

Reumatol Clin 2020 Apr 4. Epub 2020 Apr 4.

Servicio de Medicina Interna, Hospital Quirón Torrevieja, Torrevieja, Alicante, España.

Respir Med Case Rep 2020 17;29:100988. Epub 2019 Dec 17.

Department of Thoracic Surgical Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, Japan.

Anterior mediastinal teratomas are common and are generally characterized as slow growing tumors. Very few reports documenting rapidly growing tumors exist. Here, we describe a case of a mature teratoma showing rapid growth in 1 year treated with complete surgical resection. Read More

Front Immunol 2020 18;11:475. Epub 2020 Mar 18.

Department of Dermatology, Wakayama Medical University, Wakayama, Japan.

"Autoinflammatory disease (AiD)" has first been introduced in 1999 when the responsible gene for the familial Hibernean fever or autosomal dominant-type familial Mediterranean fever-like periodic fever syndrome was reportedly identified as . Linked with the rapid research progress in the field of innate immunity, "autoinflammation" has been designated for dysregulated innate immunity in contrast to "autoimmunity" with dysregulated acquired immunity. As hereditary periodic fever syndromes represent the prototype of AiD, monogenic systemic diseases are the main members of AiD. Read More

Z Rheumatol 2020 Apr 6. Epub 2020 Apr 6.

Amyloidose-Zentrum, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 410, 69120, Heidelberg, Deutschland.

Autoinflammatory syndromes (AIS) are characterized by uniform attacks often with febrile episodes, exanthema, abdominal pain, muscle and joint pain. Patients show markedly elevated levels of the inflammatory serum parameters C‑reactive protein (CRP) and systemic amyloid A (SAA) during an attack. The origin of the family of the patient and the duration of the attacks are helpful to find the appropriate diagnosis. Read More

Turk J Med Sci 2020 Mar 31. Epub 2020 Mar 31.

Dynamic thiol-disulfide homeostasis (TDH) is a new area has begun to attract more scrutiny. Dynamic TDH is reversal of thiol oxidation in proteins and represents the status of thiols (-SH) and disulfides (-S-S-). Organic compounds containing the sulfhydryl group is called thiol, composed of sulfur and hydrogen atoms. Read More

North Clin Istanb 2020 21;7(1):78-80. Epub 2019 Nov 21.

Department of Pediatric Rheumatology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.

Familial Mediterranean fever (FMF) is the most common type of monogenic periodic fever syndromes and characterized by recurrent self-limited attacks of fever and polyserositis. Musculoskeletal signs and symptoms are not uncommon and manifested as arthritis and myalgia. Myalgia may be spontaneous or exercise-induced that mostly affects lower limbs and spontaneously resolves in 2-3 days. Read More

Case Rep Ophthalmol 2019 Jan-Apr;10(1):134-139. Epub 2019 Apr 18.

Department of Ophthalmology, American University of Beirut, Beirut, Lebanon.

Purpose: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease presenting as sporadic paroxysmal attacks of fever and abdominal pain. The inflammation of serosal spaces, joints, and skin is caused by the production of an abnormal protein called pyrin. Ocular pathology is scarce in FMF. Read More

Semin Arthritis Rheum 2020 Mar 5. Epub 2020 Mar 5.

Department of Pediatric Rheumatology, University of Health Science, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey. Electronic address:

J Pediatr Adolesc Gynecol 2020 Mar 26. Epub 2020 Mar 26.

Department of Adolescent Medicine, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, State University of New York, Buffalo, New York. Electronic address:

Background: Periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome is a cyclic autoinflammatory disease generally diagnosed in childhood. There have been studies suggesting a relationship between menstruation and other autoinflammatory syndromes such as familial Mediterranean fever (FMF), but not PFAPA specifically.

Case: This case describes a patient with a diagnosis of PFAPA who experienced complete resolution with tonsillectomy only to have recurrence of symptoms with onset of menstruation. Read More

Innate Immun 2020 04;26(3):232-233

Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), Assistance Publique - Hôpitaux de Paris, Hôpital Tenon, France.

Semin Arthritis Rheum 2020 Mar 3. Epub 2020 Mar 3.

Pediatric Rheumatology Unit, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel. Electronic address:

J Inflamm Res 2020 9;13:141-149. Epub 2020 Mar 9.

Department of Infectious Diseases and Immunity, Jessa Hospital, Hasselt, Belgium.

Familial Mediterranean Fever (FMF) is the most prevalent genetic autoinflammatory disorder. In most patients, treatment with colchicine can prevent attacks of fever and inflammation. However, 5%-10% of patients are resistant to colchicine treatment, while a similar percentage cannot tolerate colchicine in doses needed to prevent attacks. Read More

Ann Rheum Dis 2020 Jun 24;79(6):740-743. Epub 2020 Mar 24.

Department of Nephrology, Hannover Medical School, Hannover, Germany

Am J Case Rep 2020 Mar 23;21:e920983. Epub 2020 Mar 23.

Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka City, Fukuoka, Japan.

BACKGROUND Familial Mediterranean fever is an auto-inflammatory disease caused by pyrin mutations. Glucocorticoids inhibit the production and secretion of inflammatory cytokines, including IL-6 and IL-1ß, from inflammatory cells and suppress the activation of nuclear factor-kappaB in the nucleus. However, the functions of physiological glucocorticoids in the disease remain unknown. Read More

Genomics 2020 Jul 18;112(4):2755-2762. Epub 2020 Mar 18.

Tekirdag Namik Kemal University, Faculty of Medicine, Department of Medical Genetics, Tekirdag, Turkey.

Familial Mediterranean Fever (FMF) is a hereditary fever syndrome that primarily affects Mediterranean populations. For the study, total number of 182 patients with FMF disease were enrolled and screening of a panel of genes , called "fever panel" which comprises 17 genes, was performed. The most common mutations in MEFV gene were homozygous M694V missense mutation (4. Read More

Liver Int 2020 Jun 15;40(6):1269-1277. Epub 2020 Apr 15.

Service de médecine interne, Hôpital Tenon, APHP, Université Sorbonne, Paris, France.

Introduction: Familial Mediterranean fever (FMF), the most frequent autoinflammatory disease, is caused by mutations in the MEFV gene. It is characterized by recurrent febrile attacks of polyserositis. Liver abnormalities may develop during its course, but they remain poorly defined. Read More

Arch Endocrinol Metab 2020 Feb 13;64(1):66-70. Epub 2020 Mar 13.

Biochemistry Department, Faculty of Medicine, Hatay Mustafa Kemal University, Hatay, Turkey.

Objective Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder that is frequently seen in the eastern Mediterranean region. The thyroid gland can be affected in FMF patients through autoimmunity or amyloidosis. Here, we aimed to evaluate the structure and functions of the thyroid gland in addition to possible autoimmunity in FMF patients. Read More

J Korean Med Sci 2020 Mar 16;35(10):e63. Epub 2020 Mar 16.

Department of Internal Medicine - Rheumatology, Cumhuriyet University, Faculty of Medicine, Sivas, Turkey.

Background: Familial Mediterranean fever (FMF) is an autoinflammatory disease that has self-limiting inflammatory attacks during polyserositis. Hepcidin is a protein, and interleukin-6 stimulation increases hepcidin levels. Calprotectin (CLP) is a recently defined cytokine released from monocytes and neutrophils in response to tissue trauma and inflammation. Read More

Nephron 2020 15;144(5):222-227. Epub 2020 Mar 15.

Department of Pediatric Nephrology and Rheumatology, Ankara Dr. Sami Ulus Maternity and Children Hospital, Ankara, Turkey.

Objectives: Familial Mediterranean fever (FMF) is a monogenic auto-inflammatory disease which might rarely cause glomerulopathy in patients. The aim of this study was to determine the clinical, demographic, and genetic characteristics and type of glomerular lesions in pediatric FMF patients who underwent kidney biopsy.

Methods: The data of 30 pediatric FMF patients with biopsy-proven glomerulopathy were retrospectively reviewed. Read More

Curr Rheumatol Rev 2020 Mar 12. Epub 2020 Mar 12.

Cairo University, Pediatric Department. Egypt.

Aims: To probe whether RDW can be used as a reliable indicator of subclinical disease in FMF patients.

Background: Familial Mediterranean fever (FMF) is an auto inflammatory disease with potentially devastating effects on the kidney, and the chronic subclinical inflammation may also be deleterious. Further, proteinuria has been associated with chronic inflammatory states. Read More

Georgian Med News 2020 Jan(298):70-74

1 I.M. Sechenov First Moscow State Medical University (Sechenov University), Russia.

Family Mediterranean fever (FMF, Periodic disease) is a hereditary autosomal recessive disease and belongs to orphan diseases. Abdominal pain syndrome in this pathology is accompanied by various complaints from the gastrointestinal tract. The aim of the study was to study the state of the gastrointestinal tract in children with FMF. Read More

Rheumatol Int 2020 Mar 5. Epub 2020 Mar 5.

Department of Pediatric Rheumatology, Faculty of Medicine, Cukurova University, Adana, Turkey.

Objectives: Familial Mediterranean Fever (FMF) is the most common hereditary autoinflammatory disorder characterized by recurrent fever and serositis episodes. Identification of low penetrant or heterozygous MEFV mutations in clinically diagnosed FMF patients did raise a concern on whether epigenetic or environmental factors play an additional role in FMF pathogenesis. We aimed to investigate the expression profile of apoptosis-related miRNAs in FMF and their influence on clinical manifestations in the present study. Read More

Muscle Nerve 2020 Jun 17;61(6):791-796. Epub 2020 Mar 17.

Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

Introduction: Small-fiber neuropathy is rare in children. It has been associated with several autoimmune disorders, but there are no reports of an autoinflammatory etiology.

Methods: The data of four children/adolescents presenting with erythromelalgia and neuropathic pain from 2014 to 2019 were collected retrospectively from the electronic database of a pediatric medical center. Read More

Nefrologia 2020 Feb 29. Epub 2020 Feb 29.

Ataturk University, Faculty of Medicine, Physical Medicine and Rehabilitation, Rheumatology Department, Erzurum, Turkey. Electronic address:

Rheumatology (Oxford) 2020 Mar 3. Epub 2020 Mar 3.

National Referral Centre of Auto-Inflammatory Diseases and Inflammatory Amyloidosis, - CEREMAIA, Department of Pediatrics, Versailles Hospital, Le Chesnay.

Objective: The new classification criteria for the hereditary recurrent fever (HRF) syndrome [cryopyrin-associated periodic syndrome (CAPS), TNF-α receptor-associated periodic syndrome (TRAPS), FMF and mevalonate kinase deficiency] have been published recently. These criteria define two core sets of criteria for each HRF: mixed criteria, including genetic and clinical variables, and clinical criteria, relying on clinical variables only. Our aim was to validate the criteria for HRF in an independent cohort, the JIR Cohort database, an international repository of systemic inflammatory diseases. Read More

Innate Immun 2020 04 2;26(3):231. Epub 2020 Mar 2.

Istanbul University-Cerrahpasa, Cerrahpasa Medical School, Turkey.